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  1. Skin-impedance in Fabry Disease: A prospective, controlled, non-randomized clinical study

    PubMed Central

    Gupta, Surya N; Ries, Markus; Murray, Gary J; Quirk, Jane M; Brady, Roscoe O; Lidicker, Jeffrey R; Schiffmann, Raphael; Moore, David F

    2008-01-01

    Background We previously demonstrated improved sweating after enzyme replacement therapy (ERT) in Fabry disease using the thermo-regularity sweat and quantitative sudomotor axon reflex tests. Skin-impedance, a measure skin-moisture (sweating), has been used in the clinical evaluation of burns and pressure ulcers using the portable dynamic dermal impedance monitor (DDIM) system. Methods We compared skin impedance measurements in hemizygous patients with Fabry disease (22 post 3-years of bi-weekly ERT and 5 ERT naive) and 22 healthy controls. Force compensated skin-moisture values were used for statistical analysis. Outcome measures included 1) moisture reading of the 100th repetitive reading, 2) rate of change, 3) average of 60–110th reading and 4) overall average of all readings. Results All outcome measures showed a significant difference in skin-moisture between Fabry patients and control subjects (p < 0.0001). There was no difference between Fabry patients on ERT and patients naïve to ERT. Increased skin-impedance values for the four skin-impedance outcome measures were found in a small number of dermatome test-sites two days post-enzyme infusions. Conclusion The instrument portability, ease of its use, a relatively short time required for the assessment, and the fact that DDIM system was able to detect the difference in skin-moisture renders the instrument a useful clinical tool. PMID:18990229

  2. Fabry disease

    PubMed Central

    2010-01-01

    Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity. FD is pan-ethnic and the reported annual incidence of 1 in 100,000 may underestimate the true prevalence of the disease. Classically affected hemizygous males, with no residual α-galactosidase A activity may display all the characteristic neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) signs of the disease while heterozygous females have symptoms ranging from very mild to severe. Deficient activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide within lysosomes, believed to trigger a cascade of cellular events. Demonstration of marked α-galactosidase A deficiency is the definitive method for the diagnosis of hemizygous males. Enzyme analysis may occasionnally help to detect heterozygotes but is often inconclusive due to random X-chromosomal inactivation so that molecular testing (genotyping) of females is mandatory. In childhood, other possible causes of pain such as rheumatoid arthritis and 'growing pains' must be ruled out. In adulthood, multiple sclerosis is sometimes considered. Prenatal diagnosis, available by determination of enzyme activity or DNA testing in chorionic villi or cultured amniotic cells is, for ethical reasons, only considered in male fetuses. Pre-implantation diagnosis is possible. The existence of atypical variants and the availability of a specific therapy singularly complicate genetic counseling. A disease-specific therapeutic option - enzyme replacement therapy using recombinant human α-galactosidase A - has been recently introduced and its long term outcome is currently still being investigated. Conventional management consists of pain relief with analgesic drugs

  3. Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients.

    PubMed

    Navarro, Carmen; Teijeira, Susana; Dominguez, Carmen; Fernandez, Jose M; Rivas, Eloy; Fachal, Carmen; Barrera, Soraya; Rodriguez, Carmen; Iranzo, Pilar

    2006-02-01

    Fabry disease is a rare X-linked lysosomal storage disorder due to alpha galactosidase A deficiency, better known after the advent of a promising treatment, a periodical enzyme replacement. As other hereditary X-linked disorders, females have historically been considered non-affected carriers, although they are, actually, clinically and pathologically affected to a variable degree. Some women are asymptomatic, but the majority present milder forms of the disease and later onset. This wide range of disease expression is supposed to be related to the levels of enzymatic activity, probably in accordance with a skewing of X inactivation. Lysosomal deposits of ceramide trihexoside have been repeatedly documented in a wide range of tissues, including those found in angiokeratoma, the characteristic cutaneous lesion which allowed the definition of Fabry disease. The aim of this study was to investigate whether there was any difference in the amount of dermal lysosomal storage in males and females, thus accounting for the difference in clinical severity of both groups. For that purpose, with electron microscopy and quantitative methods, we studied the extent of lysosomal deposits in dermal fibroblasts of normal-appearing skin in six females and nine men, enzymatically and genetically proven as to have Fabry disease, and results were compared. Our results indicate a statistically significant difference between the two groups regarding both the percentage of dermal fibroblasts bearing stored material, and the storage surface occupied in 100 fibroblasts per case. We suggest that periodical ultrastructural examination of normal-appearing skin could be an indicator of the efficacy of enzyme replacement therapy and could help to evaluate results. PMID:16463201

  4. Fabry Disease

    MedlinePlus

    ... kidneys may become progressively impaired, leading to renal failure. Other signs include decreased sweating, fever, and gastrointestinal ... of complications from strokes, heart disease, or kidney failure. What research is being done? The mission of ...

  5. Paediatric Fabry disease

    PubMed Central

    2016-01-01

    Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A (α-Gal A) with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular endothelium of various tissues. Accumulation of GL3 eventually leads to life threatening renal, cardiac and cerebrovascular complications typically in the third to fifth decades of life. The first signs and symptoms of classic Fabry disease however appear in childhood but diagnosis is often delayed. The symptoms most commonly experienced in childhood include neuropathic pain, gastrointestinal dysfunction, hyperhidrosis and heat intolerance. Timely diagnosis is important as early treatment with enzyme replacement therapy reduces GL3 accumulation, can stabilize disease progression and potentially prevent irreversible organ damage. Physicians should be familiar with the signs and symptoms of Fabry disease in childhood and be particularly vigilant for unusual or non-specific but recurrent or episodic symptoms. PMID:26835405

  6. Paediatric Fabry disease.

    PubMed

    Ellaway, Carolyn

    2016-01-01

    Fabry disease is a rare, progressive X-linked inborn error of the glycosphingolipid metabolic pathway. Mutations of the GLA gene result in deficiency of the lysosomal enzyme, α-galactosidase A (α-Gal A) with accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3) in the vascular endothelium of various tissues. Accumulation of GL3 eventually leads to life threatening renal, cardiac and cerebrovascular complications typically in the third to fifth decades of life. The first signs and symptoms of classic Fabry disease however appear in childhood but diagnosis is often delayed. The symptoms most commonly experienced in childhood include neuropathic pain, gastrointestinal dysfunction, hyperhidrosis and heat intolerance. Timely diagnosis is important as early treatment with enzyme replacement therapy reduces GL3 accumulation, can stabilize disease progression and potentially prevent irreversible organ damage. Physicians should be familiar with the signs and symptoms of Fabry disease in childhood and be particularly vigilant for unusual or non-specific but recurrent or episodic symptoms. PMID:26835405

  7. [Imaging mass spectrometry: a new tool for the analysis of skin biopsy. Application in Fabry's disease].

    PubMed

    Roy, S; Touboul, D; Brunelle, A; Germain, D-P; Prognon, P; Laprévote, O; Chaminade, P

    2006-09-01

    The advent of innovative techniques in mass spectrometry, especially in the area of imaging, prompted us to evaluate two promising techniques: secondary ion mass spectrometry (SIMS) and matrix-assisted laser desorption/ionization (MALDI) mass spectrometry. For this purpose, sections of cutaneous biopsies from patients affected by Fabry's disease and control patients were analyzed. In the course of this disease, two physiological glycosphingolipids [globotriasylceramide (Gb3) and the galabiosylceramide (Ga2)] accumulate in certain tissues owing to a catabolism failure. The ability of these techniques to localize sites of accumulation in body tissues and their capacity to identify the accumulated lipid structures by mass spectra were evaluated. Results demonstrated that these two techniques provide complementary information:-secondary ion mass spectrometry enabled precise localization of areas of accumulation with lateral resolution in the micrometer range;-the signal obtained with matrix-assisted laser desorption/ionization mass spectrometry was high enough to identify these structures according to their molecular weight. PMID:17095952

  8. Genetics Home Reference: Fabry disease

    MedlinePlus

    ... National Organization for Rare Disorders (NORD) National Tay-Sachs & Allied Diseases Association, Inc. Resource list from the ... Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, Grabowski G, Packman S, Wilcox WR. Fabry disease, ...

  9. [Cardiac involvement in Fabry's disease].

    PubMed

    Weidemann, Frank; Breunig, Frank

    2008-03-15

    Fabry's disease is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of all tissues. The disease is characterized by a progressive involvement of important vital organs like the kidneys, the cerebrovascular system and the heart. Within the scope of this article an overview of Fabry's cardiomyopathy, the necessary cardiac diagnostic tests and, in addition, the new concept of enzyme replacement therapy is given. PMID:18344066

  10. [Priapism associated with Fabry's disease].

    PubMed

    Jaureguizar Monereo, E; López Pereira, P; Cabo, J; Gutiérrez, J M; García-Consuegra, J; Martínez Olivas, J; López Santamaría, M

    1990-07-01

    We present a rare case of priapism in a child, ten years old, in association with Fabry's disease. The child had a history of disseminated nodular enlargement, crises of fever, intermittent pain in the extremities and ten hours persistent painful erection of the penis. We don't obtain pain or erection relief with sedation, epidural block and irrigation of the corporal bodies. A saphenous-cavernous shunt, in the Grayhack fashion made, being results satisfactory. In the follow-up, the child had sporadic pain in the extremities and no erection of the penis. The cavernosography showed the shunt open. Fabry's disease was confirmed by nodular biopsy and the demonstration of deficient alpha-galactosidase. PMID:2127372

  11. No Fabry Disease in Patients Presenting with Isolated Small Fiber Neuropathy

    PubMed Central

    de Greef, Bianca T. A.; Hoeijmakers, Janneke G. J.; Wolters, Emma E.; Smeets, Hubertus J. M.; van den Wijngaard, Arthur; Merkies, Ingemar S. J.; Faber, Catharina G.; Gerrits, Monique M.

    2016-01-01

    Objective Screening for Fabry disease in patients with small fiber neuropathy has been suggested, especially since Fabry disease is potentially treatable. However, the diagnostic yield of testing for Fabry disease in isolated small fiber neuropathy patients has never been systematically investigated. Our aim is to determine the presence of Fabry disease in patients with small fiber neuropathy. Methods Patients referred to our institute, who met the criteria for isolated small fiber neuropathy were tested for Fabry disease by measurement of alpha-Galactosidase A activity in blood, lysosomal globotriaosylsphingosine in urine and analysis on possible GLA gene mutations. Results 725 patients diagnosed with small fiber neuropathy were screened for Fabry disease. No skin abnormalities were seen except for redness of the hands or feet in 30.9% of the patients. Alfa-Galactosidase A activity was tested in all 725 patients and showed diminished activity in eight patients. Lysosomal globotriaosylsphingosine was examined in 509 patients and was normal in all tested individuals. Screening of GLA for mutations was performed for 440 patients, including those with diminished α-Galactosidase A activity. Thirteen patients showed a GLA gene variant. One likely pathogenic variant was found in a female patient. The diagnosis Fabry disease could not be confirmed over time in this patient. Eventually none of the patients were diagnosed with Fabry disease. Conclusions In patients with isolated small fiber neuropathy, and no other signs compatible with Fabry disease, the diagnostic yield of testing for Fabry disease is extremely low. Testing for Fabry disease should be considered only in cases with additional characteristics, such as childhood onset, cardiovascular disease, renal failure, or typical skin lesions. PMID:26866599

  12. Coronary artery bypass graft in a patient with Fabry's disease.

    PubMed

    Osada, Hiroaki; Kanemitsu, Naoki; Kyogoku, Masahisa

    2016-01-01

    Fabry's disease is a lysosomal storage disease characterized by intracellular accumulation of ceramide trihexoside resulting from alpha-galactosidase A deficiency. While the heart is often involved, coronary artery disease and its management in Fabry's disease patients are extremely rare clinical entities. We report a case of a 72-year-old man with left main disease in Fabry's disease with special consideration of the arterial wall pathology. PMID:27131517

  13. Electrocardiographic Changes and Arrhythmia in Fabry Disease

    PubMed Central

    Namdar, Mehdi

    2016-01-01

    Fabry disease is an X-chromosome-linked lysosomal storage disease characterized by a deficient activity or, in most males, absence of the enzyme α-galactosidase A (a-Gal A) leading to systemic, primary lysosomal accumulation of globotriaosylceramide (Gb3) (1). Recent literature refers to an overall birth prevalence of 1:40,000–170,000; however, such data do not allow an estimation on an actual patient number suffering from Fabry disease (2). Multisystem morbidity commonly develops in childhood and, with progression of the disease, life-threatening complications often occur in adulthood, including renal failure, cardiovascular dysfunction, neuropathy, and stroke (3–6). Life expectancy is reduced by an average of 15 years in female patients and 20 years in male patients (7, 8). The pathognomonic Gb3 accumulation has been repeatedly observed over the past decades by many groups in vascular endothelial and smooth muscle cells, cardiomyocytes, cardiac conduction tissue, and valvular fibroblasts (3). Although incompletely described, it is likely that inflammatory and neurohormonal mechanisms are involved in subsequent cellular and vascular dysfunction, leading to tissue ischemia, hypertrophy, and fibrosis (9). Furthermore, recently published works on cardiomyocyte dysfunction and conduction tissue involvement have suggested that cardiac dysfunction may reflect increased myocardial nitric oxide production with oxidative damage of cardiomyocyte myofilaments and DNA, causing cell dysfunction and death, and accelerated conduction with prolonged refractoriness and electric instability (10, 11). PMID:27047943

  14. Electrocardiographic Changes and Arrhythmia in Fabry Disease.

    PubMed

    Namdar, Mehdi

    2016-01-01

    Fabry disease is an X-chromosome-linked lysosomal storage disease characterized by a deficient activity or, in most males, absence of the enzyme α-galactosidase A (a-Gal A) leading to systemic, primary lysosomal accumulation of globotriaosylceramide (Gb3) (1). Recent literature refers to an overall birth prevalence of 1:40,000-170,000; however, such data do not allow an estimation on an actual patient number suffering from Fabry disease (2). Multisystem morbidity commonly develops in childhood and, with progression of the disease, life-threatening complications often occur in adulthood, including renal failure, cardiovascular dysfunction, neuropathy, and stroke (3-6). Life expectancy is reduced by an average of 15 years in female patients and 20 years in male patients (7, 8). The pathognomonic Gb3 accumulation has been repeatedly observed over the past decades by many groups in vascular endothelial and smooth muscle cells, cardiomyocytes, cardiac conduction tissue, and valvular fibroblasts (3). Although incompletely described, it is likely that inflammatory and neurohormonal mechanisms are involved in subsequent cellular and vascular dysfunction, leading to tissue ischemia, hypertrophy, and fibrosis (9). Furthermore, recently published works on cardiomyocyte dysfunction and conduction tissue involvement have suggested that cardiac dysfunction may reflect increased myocardial nitric oxide production with oxidative damage of cardiomyocyte myofilaments and DNA, causing cell dysfunction and death, and accelerated conduction with prolonged refractoriness and electric instability (10, 11). PMID:27047943

  15. Fabry's disease: An ultrastructural study of nerve biopsy

    PubMed Central

    Gayathri, N.; Yasha, T. C.; Kanjalkar, Makarand; Agarwal, Santosh; Sagar, B. K. Chandrashekar; Santosh, Vani; Shankar, S. K.

    2008-01-01

    Fabry's disease, an X linked recessive disorder caused by the deficiency of α-galactosidase A (α-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease. PMID:19893666

  16. Impaired small fiber conduction in patients with Fabry disease: a neurophysiological case–control study

    PubMed Central

    2013-01-01

    Background Fabry disease is an inborn lysosomal storage disorder which is associated with small fiber neuropathy. We set out to investigate small fiber conduction in Fabry patients using pain-related evoked potentials (PREP). Methods In this case–control study we prospectively studied 76 consecutive Fabry patients for electrical small fiber conduction in correlation with small fiber function and morphology. Data were compared with healthy controls using non-parametric statistical tests. All patients underwent neurological examination and were investigated with pain and depression questionnaires. Small fiber function (quantitative sensory testing, QST), morphology (skin punch biopsy), and electrical conduction (PREP) were assessed and correlated. Patients were stratified for gender and disease severity as reflected by renal function. Results All Fabry patients (31 men, 45 women) had small fiber neuropathy. Men with Fabry disease showed impaired cold (p < 0.01) and warm perception (p < 0.05), while women did not differ from controls. Intraepidermal nerve fiber density (IENFD) was reduced at the lower leg (p < 0.001) and the back (p < 0.05) mainly of men with impaired renal function. When investigating A-delta fiber conduction with PREP, men but not women with Fabry disease had lower amplitudes upon stimulation at face (p < 0.01), hands (p < 0.05), and feet (p < 0.01) compared to controls. PREP amplitudes further decreased with advance in disease severity. PREP amplitudes and warm (p < 0.05) and cold detection thresholds (p < 0.01) at the feet correlated positively in male patients. Conclusion Small fiber conduction is impaired in men with Fabry disease and worsens with advanced disease severity. PREP are well-suited to measure A-delta fiber conduction. PMID:23705943

  17. Gastrointestinal Symptoms of Patients with Fabry Disease

    PubMed Central

    Pensabene, Licia; Sestito, Simona; Nicoletti, Angela; Graziano, Francesca; Strisciuglio, Pietro; Concolino, Daniela

    2016-01-01

    In order to characterize gastrointestinal (GI) symptoms of 50 patients with Fabry disease (FD) (22 M; age range: 4–70 y; 35 adults and 15 children), validated questionnaires of GI symptoms were used to diagnose the functional gastrointestinal disorders (FGIDs) of the patients with GI symptoms (33/50 (66%); 25/35 adults and 8/15 children) according to Rome III criteria. In 16/25 of these adults and 2/8 of these children, the symptoms mimicked FGID. The adult subgroup included patients with unspecified functional bowel disorder (n = 9), functional bloating (n = 7), and IBS (n = 5), and the child subgroup included patients with abdominal migraine (n = 1) and IBS (n = 1). Among the 25 adults, 14 reported feeling full after a regular-size meal, and 12 complained of abdominal bloating/distension. All of the children with GI symptoms complained of low abdominal pain associated with changes in the form of the stool/improvements with defecation. In conclusion, according to Rome III criteria, the most frequent diagnoses of FGID among the adults with FD were unspecified functional bowel disorder, followed by functional bloating and IBS. The most frequent GI symptom in the children in our population was IBS-like abdominal pain, while the adults exhibited a full feeling following a regular-size meal and abdominal bloating/distension. PMID:26880903

  18. Skin Diseases: Skin Health and Skin Diseases

    MedlinePlus

    ... the sun. Photo: PhotoDisc Care for conditions from acne to wrinkles Did you know that your skin ... other skin conditions. Many skin problems, such as acne, also affect your appearance. Your skin can also ...

  19. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

    PubMed

    Zar-Kessler, Claire; Karaa, Amel; Sims, Katherine Bustin; Clarke, Virginia; Kuo, Braden

    2016-07-01

    Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical. PMID:27366228

  20. Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis

    PubMed Central

    Zar-Kessler, Claire; Karaa, Amel; Sims, Katherine Bustin; Clarke, Virginia; Kuo, Braden

    2016-01-01

    Fabry disease is a rare X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal involvement such as diarrhea, abdominal pain, early satiety and nausea. The gastrointestinal symptoms of Fabry disease are thought to be due to neuropathic and myopathic changes leading to symptoms of dysmotility that are encountered in many other disorders. The gastrointestinal symptoms can often be one of the presenting signs of the disease in childhood, but can be misdiagnosed by gastroenterologists for many years due to their nonspecific presentation. As the chief treatment for Fabry is enzyme-replacement therapy that has been shown to stabilize and possibly reverse disease course, recognition of these symptoms and early diagnosis in an attempt to prevent progression with treatment, is critical. PMID:27366228

  1. Identification of mutations in Colombian patients affected with Fabry disease.

    PubMed

    Uribe, Alfredo; Mateus, Heidi Eliana; Prieto, Juan Carlos; Palacios, Maria Fernanda; Ospina, Sandra Yaneth; Pasqualim, Gabriela; da Silveira Matte, Ursula; Giugliani, Roberto

    2015-12-15

    Fabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling. Although more than 600 mutations have been identified, most mutations are private. Our objective was to describe the analysis of nine Colombian patients with Fabry disease by automated sequencing of the seven exons of the GLA gene. Two novel mutations were identified in two patients affected with the classical subtype of FD, in addition to other 6 mutations previously reported. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions. PMID:26297554

  2. [Skin and chronic kidney disease].

    PubMed

    Rizzo, Raffaella; Mancini, Elena; Santoro, Antonio

    2014-01-01

    Kidneys and skin are seldom considered associated, but their relationship is more closer than generally believed. In some immunological diseases (SLE...) and genetic syndromes (tuberous sclerosis, Fabrys disease...) the cutaneous manifestations are integral parts of the clinical picture. In advanced uremia, besides the well-known itching skin lesions, calciphylaxis may appear, a typical example of cutaneous involvement secondary to the metabolic complications (calcium-phosphate imbalance) of the renal disease. Nephrogenic systemic fibrosis appears only in patients with renal failure and it has a very severe prognosis due to the systemic organ involvement. Moreover, there is a heterogeneous group of metabolic diseases, with renal involvement, that may be accompanied by skin lesions, either related to the disease itself or to its complications (diabetes mellitus, porphyrias). In systemic amyloidosis, fibrils may deposit even in dermis leading to different skin lesions. In some heroin abusers, in the presence of suppurative lesions in the sites of needle insertion, renal amyloidosis should be suspected, secondary to the chronic inflammation. Atheroembolic disease is nowadays frequently observed, as a consequence of the increasing number of invasive intravascular manoeuvres. Skin manifestations like livedo reticularis or the blue toe syndrome are the most typical signs, but often renal dysfunction is also present. In all these conditions, the skin lesion may be a first sign, a warning, that should arouse the suspicion of a more complex pathology, even with renal involvement. Being aware of this relationship is fundamental to accelerate the diagnostic process. PMID:25315722

  3. Fabry Disease – Current Treatment and New Drug Development

    PubMed Central

    Motabar, Omid; Sidransky, Ellen; Goldin, Ehud; Zheng, Wei

    2010-01-01

    Fabry disease is a rare inherited lysosomal storage disorder caused by a partial or complete deficiency of α-galactosidase A (GLA), resulting in the storage of excess cellular glycosphingolipids. Enzyme replacement therapy is available for the treatment of Fabry disease, but it is a costly, intravenous treatment. Alternative therapeutic approaches, including small molecule chaperone therapy, are currently being explored. High throughput screening (HTS) technologies can be utilized to discover other small molecule compounds, including non-inhibitory chaperones, enzyme activators, molecules that reduce GLA substrate, and molecules that activate GLA gene promoters. This review outlines the current therapeutic approaches, emerging treatment strategies, and the process of drug discovery and development for Fabry disease. PMID:21127742

  4. Lipiduria--with special relevance to Fabry disease.

    PubMed

    Becker, Gavin J; Nicholls, Kathleen

    2015-11-01

    Examination of the urine under the microscope using polarised light is invaluable for detecting and identifying lipid particles. Attention to the shape of these Maltese cross bearing bodies can distinguish conventional fat particles from Fabry bodies with great sensitivity and specificity across a wide phenotypic spectrum. This could be a cheap and rapid tool for screening subjects suspected of having Fabry disease for renal involvement. It remains to be seen whether there is value in integrating polarised light into automated urine microscopy machines, but potentially this could greatly help the pathologist or nephrologist in identifying unusual urinary particles, and broaden the capacity for larger scale screening. PMID:26124059

  5. Atypical patterns of cardiac involvement in Fabry disease.

    PubMed

    Coughlan, J J; Elkholy, K; O'Brien, J; Kiernan, T

    2016-01-01

    A 58-year-old woman was referred to our cardiology service with chest pain, exertional dyspnoea and palpitations on a background of known Fabry disease diagnosed with genetic testing in 1994. ECG showed sinus rhythm, shortened PR interval, widespread t wave inversion, q waves in the lateral leads and left ventricular hypertrophy (LVH). Coronary angiogram showed only mild atheroma. Transthoracic echocardiogram showed anterolateral LVH and reduced left ventricular cavity size in keeping with Fabry cardiomyopathy. Cardiac MRI demonstrated asymmetric hypertrophy with evidence of diffuse myocardial fibrosis in the maximally hypertrophied segments from base to apex with late gadolinium enhancement in the anterior and anteroseptal walls. This was quite an atypical appearance for Fabry cardiomyopathy. This case highlights the heterogeneity of patterns of cardiac involvement that may be associated with this rare X-linked lysosomal disorder. PMID:26989114

  6. MALDI-TOF and cluster-TOF-SIMS imaging of Fabry disease biomarkers

    NASA Astrophysics Data System (ADS)

    Touboul, David; Roy, Sandrine; Germain, Dominique P.; Chaminade, Pierre; Brunelle, Alain; Laprevote, Olivier

    2007-02-01

    Fabry disease is an X-linked disorder of glycosphingolipid metabolism, in which a partial or total deficiency of [alpha]-galactosidase A, a lysosomal enzyme, results in the progressive accumulation of neutral glycosphingolipids (globotriaosylceramide and digalactosylceramide) in most fluids and tissues of the body. Few information is available about the composition and distribution in tissues of the accumulated glycosphingolipids species. Mass spectrometry imaging is an innovative technique, which can provide pieces of information about the distribution of numerous biological compounds, such as lipids, directly on the tissue sections. MALDI-TOF and cluster-TOF-SIMS imaging approaches were used to study the localization of lipids (cholesterol, cholesterol sulfate, vitamin E, glycosphingolipids ...) on skin and kidney sections of patients affected by the Fabry disease. Numerous information on pathophysiology were enlightened by both techniques.

  7. Genomic analysis of Brazilian patients with Fabry disease.

    PubMed

    Pereira, F S; Jardim, L B; Netto, C B; Burin, M G; Cecchin, C; Giugliani, R; Matte, U S

    2007-12-01

    Fabry disease is an X-linked lysosomal disorder due to a-galactosidase A deficiency that causes storage of globotriaosylceramide. The gene coding for this lysosomal enzyme is located on the long arm of the X chromosome, in region Xq21.33-Xq22. Disease progression leads to vascular disease secondary to involvement of kidney, heart and the central nervous system. Detection of female carriers based solely on enzyme assays is often inconclusive. Therefore, mutation analysis is a valuable tool for diagnosis and genetic counseling. Many mutations of the a-galactosidase A gene have been reported with high genetic heterogeneity, being most mutations private found in only one family. The disease is panethnic, and estimates of incidence range from about 1 in 40,000 to 60,000 males. Our objective was to describe the analysis of 6 male and 7 female individuals belonging to 4 different Fabry disease families by automated sequencing of the seven exons of the alpha-galactosidase gene. Sequencing was performed using PCR fragments for each exon amplified from DNA extracted from peripheral blood. Three known mutations and one previously described in another Brazilian family were detected. Of 7 female relatives studied, 4 were carriers. Although the present study confirms the heterogeneity of mutations in Fabry disease, the finding of the same mutation previously detected in another Fabry family from our region raises the possibility of some founder effect, or genetic drift. Finally, the present study highlights the importance of molecular analysis for carrier detection and genetic counseling. PMID:17713670

  8. Viral Skin Diseases.

    PubMed

    Ramdass, Priya; Mullick, Sahil; Farber, Harold F

    2015-12-01

    In the vast world of skin diseases, viral skin disorders account for a significant percentage. Most viral skin diseases present with an exanthem (skin rash) and, oftentimes, an accompanying enanthem (lesions involving the mucosal membrane). In this article, the various viral skin diseases are explored, including viral childhood exanthems (measles, rubella, erythema infectiosum, and roseola), herpes viruses (herpes simplex virus, varicella zoster virus, Kaposi sarcoma herpes virus, viral zoonotic infections [orf, monkeypox, ebola, smallpox]), and several other viral skin diseases, such as human papilloma virus, hand, foot, and mouth disease, molluscum contagiosum, and Gianotti-Crosti syndrome. PMID:26612372

  9. Sudden death following AV node ablation in a man with Fabry disease mimicking hypertrophic cardiomyopathy.

    PubMed

    Rodda, Odette A; Lynch, Matthew; Parsons, Sarah

    2016-08-01

    We present a case of Fabry disease with an uncommon pattern of asymmetrical hypertrophy with septal prominence resulting in an erroneous diagnosis of hypertrophic cardilmyopathy clinically. The deceased presented for a medicolegal autopsy following his sudden death after an AV node ablation. Fabry disease continues to be an important misdiagnosis of hypertrophic cardiomyopathy in a clinical setting. Early diagnosis of Fabry disease is essential so that early treatment can be instituted. PMID:27213840

  10. Ocular signs correlate well with disease severity and genotype in Fabry disease.

    PubMed

    Pitz, Susanne; Kalkum, Gisela; Arash, Laila; Karabul, Nesrin; Sodi, Andrea; Larroque, Sylvain; Beck, Michael; Gal, Andreas

    2015-01-01

    Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult patients who had undergone ophthalmological examination. Three ocular signs were assessed: cornea verticillata, tortuous conjunctival and/or retinal vessels, and cataract. Fabry disease severity was measured using FOS Mainz Severity Score Index and modifications thereof. Ophthalmological data were available for 1203 (699 female, 504 male) adult patients with eye findings characteristic of Fabry disease in 55.1%. Cornea verticillata had a similar distribution in women (51.1%) and men (50.8%), whereas tortuous vessels and Fabry cataract were somewhat more frequent in men than in women. Patients with cornea verticillata, selected as the principal ocular sign for this study, had more severe disease (median score, 20.0) versus those without ocular signs (11.0; P<0.001). This finding could be confirmed by applying age adjusted severity scores. Moreover, the prevalence of cornea verticillata was significantly higher in patients with null (male, 76.9%; female, 64.5%) and missense (male, 79.2%; female, 67.4%) mutations versus mild missense (male, 17.1%; female, 23.1%) and the p.N215S (male, 15.0%; female, 15.6%) mutations (P<0.01). Our analyses show a correlation between the prevalence of ocular changes in Fabry disease and disease severity. Consequently, information on ocular findings and α-galactosidase A gene mutation may help assess the risk for more severe Fabry disease. These observed findings are of notable clinical importance, as Fabry disease is characterized by high clinical course variability and only weak genotype-phenotype correlation at the individual patient level. Further confirmatory studies

  11. Ocular Signs Correlate Well with Disease Severity and Genotype in Fabry Disease

    PubMed Central

    Pitz, Susanne; Kalkum, Gisela; Arash, Laila; Karabul, Nesrin; Sodi, Andrea; Larroque, Sylvain; Beck, Michael; Gal, Andreas

    2015-01-01

    Ocular signs in Fabry disease have generally been regarded to be primarily of diagnostic value. We explored whether ocular findings, alone or in particular in combination with the α-galactosidase A gene mutation, have predictive value for disease severity. Data from the Fabry Outcome Survey (FOS), a large, global database sponsored by Shire, were selected for adult patients who had undergone ophthalmological examination. Three ocular signs were assessed: cornea verticillata, tortuous conjunctival and/or retinal vessels, and cataract. Fabry disease severity was measured using FOS Mainz Severity Score Index and modifications thereof. Ophthalmological data were available for 1203 (699 female, 504 male) adult patients with eye findings characteristic of Fabry disease in 55.1%. Cornea verticillata had a similar distribution in women (51.1%) and men (50.8%), whereas tortuous vessels and Fabry cataract were somewhat more frequent in men than in women. Patients with cornea verticillata, selected as the principal ocular sign for this study, had more severe disease (median score, 20.0) versus those without ocular signs (11.0; P<0.001). This finding could be confirmed by applying age adjusted severity scores. Moreover, the prevalence of cornea verticillata was significantly higher in patients with null (male, 76.9%; female, 64.5%) and missense (male, 79.2%; female, 67.4%) mutations versus mild missense (male, 17.1%; female, 23.1%) and the p.N215S (male, 15.0%; female, 15.6%) mutations (P<0.01). Our analyses show a correlation between the prevalence of ocular changes in Fabry disease and disease severity. Consequently, information on ocular findings and α-galactosidase A gene mutation may help assess the risk for more severe Fabry disease. These observed findings are of notable clinical importance, as Fabry disease is characterized by high clinical course variability and only weak genotype-phenotype correlation at the individual patient level. Further confirmatory studies

  12. Fabry's Disease: Case Series and Review of Literature

    PubMed Central

    Wani, Muzaffar Maqsood; Khan, Imran; Bhat, Riyaz Ahmad; Ahmad, Muzaffar

    2016-01-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations. It is a rare cause of end-stage renal disease. It classically affects males whereas 10–15% of female heterozygote carriers are affected depending on localization. Both the FD and its association with ESRD is rare. With this background, this case series of five patient's along with the review of literature is presented here. PMID:27398254

  13. [Fabry-Anderson disease: current state of knowledge].

    PubMed

    Vega-Vega, Olynka; Pérez-Gutiérrez, Angélica; Correa-Rotter, Ricardo

    2011-01-01

    Fabry-Anderson disease is a lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase. This enzymatic defect results in the accumulation of glycosphingolipid into different lines cells. Usually the deficiency is complete, resulting in a multisystem disorder, with injury in different organs, predominantly heart, kidney and nervous system. However, in some patients the enzymatic deficit is partial and causes diverse clinical variants of the disease (renal or cardiac variety), this cause a difficult diagnostic and the absence of real epidemiology data. This review is about the epidemiology, the metabolic defect of this disease, it's molecular and genetics bases, the different forms of clinical presentation and the enzyme replacement therapy. PMID:21888295

  14. Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice.

    PubMed

    Ohshima, T; Schiffmann, R; Murray, G J; Kopp, J; Quirk, J M; Stahl, S; Chan, C C; Zerfas, P; Tao-Cheng, J H; Ward, J M; Brady, R O; Kulkarni, A B

    1999-05-25

    Fabry disease is an X-linked metabolic disorder caused by a deficiency of alpha-galactosidase A (alpha-Gal A). The enzyme defect leads to the systemic accumulation of glycosphingolipids with alpha-galactosyl moieties consisting predominantly of globotriaosylceramide (Gb3). In patients with this disorder, glycolipid deposition in endothelial cells leads to renal failure and cardiac and cerebrovascular disease. Recently, we generated alpha-Gal A gene knockout mouse lines and described the phenotype of 10-week-old mice. In the present study, we characterize the progression of the disease with aging and explore the effects of bone marrow transplantation (BMT) on the phenotype. Histopathological analysis of alpha-Gal A -/0 mice revealed subclinical lesions in the Kupffer cells in the liver and macrophages in the skin with no gross lesions in the endothelial cells. Gb3 accumulation and pathological lesions in the affected organs increased with age. Treatment with BMT from the wild-type mice resulted in the clearance of accumulated Gb3 in the liver, spleen, and heart with concomitant elevation of alpha-Gal A activity. These findings suggest that BMT may have a potential role in the management of patients with Fabry disease. PMID:10339603

  15. The Psychosocial Impact of Fabry Disease on Pediatric Patients.

    PubMed

    Bugescu, Nicolle; Naylor, Paige E; Hudson, Kyr; Aoki, Christa D; Cordova, Matthew J; Packman, Wendy

    2016-09-01

    Fabry disease (FD) is a multisystemic disease that has previously been reported to result in poorer quality of life and psychosocial functioning in impacted adults. However, prior to the current study, limited data were available on the impact of FD in children and adolescents. Therefore, the present study examined the differences of quality of life, psychosocial functioning, and depression in children with FD as compared with a healthy sample. Results indicated that children with FD were experiencing poorer quality of life than their healthy counterparts. Notably, results consistently identified adolescents with FD as more heavily impacted than younger children, although not to the same degree as adults with FD as reported in previous studies. Therefore, adolescence may be a critical point in the development of individuals with FD during which effective multidisciplinary interventions could be utilized to prevent poor quality of life and psychosocial functioning in adulthood. PMID:27617155

  16. Mitochondrial DNA haplogroups may influence Fabry disease phenotype.

    PubMed

    Simoncini, C; Chico, L; Concolino, D; Sestito, S; Fancellu, L; Boadu, W; Sechi, G P; Feliciani, C; Gnarra, M; Zampetti, A; Salviati, A; Scarpelli, M; Orsucci, D; Bonuccelli, U; Siciliano, G; Mancuso, M

    2016-08-26

    While the genetic origin of Fabry disease (FD) is well known, it is still unclear why the disease presents a wide heterogeneity of clinical presentation and progression, even within the same family. Emerging observations reveal that mitochondrial impairment and oxidative stress may be implicated in the pathogenesis of FD. To investigate if specific genetic polymorphisms within the mitochondrial genome (mtDNA) could act as susceptibility factors and contribute to the clinical expression of FD, we have genotyped European mtDNA haplogroups in 77 Italian FD patients and 151 healthy controls. Haplogroups H and I, and haplogroup cluster HV were significantly more frequent in patients than controls. However, no correlation with gender, age of onset, organ involvement was observed. Our study seems to provide some evidence of a contribution of mitochondrial variation in FD pathogenesis, at least in Italy. PMID:27365132

  17. Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.

    PubMed

    Sagnelli, A; Savoiardo, M; Marchesi, C; Morandi, L; Mora, M; Morbin, M; Farina, L; Mazzeo, A; Toscano, A; Pagliarani, S; Lucchiari, S; Comi, G P; Salsano, E; Pareyson, D

    2014-03-01

    Adult polyglucosan body disease is a rare autosomal recessive disease, caused by glycogen branching enzyme gene mutations, characterised by urinary dysfunction, spastic paraplegia with vibration sense loss, peripheral neuropathy, and cognitive impairment. Fabry's disease is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations; neurological manifestations include cerebrovascular accidents, small-fibre neuropathy and autonomic dysfunction. Here, we report the case of a 44-year-old Sicilian male with stroke-like episodes, hypohidrosis and mild proteinuria, which led to the diagnosis of Fabry's disease after a hemizygous mutation (p.Ala143Thr) in α-galactosidase A gene was detected. Subsequently, he developed progressive walking difficulties and dementia, which were considered atypical for Fabry's disease. Therefore, we performed additional investigations that eventually led to the diagnosis of adult polyglucosan body disease caused by two novel missense mutations (p.Asp413His and p.Gly534Val) in the glycogen branching enzyme gene. Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned. This case underlines the importance of performing further investigations when facing with atypical features even in the presence of a genetic diagnosis of a rare disease. PMID:24380807

  18. Increased Arterial Diameters in the Posterior Cerebral Circulation in Men with Fabry Disease

    PubMed Central

    Üçeyler, Nurcan; Homola, György A.; Guerrero González, Hans; Kramer, Daniela; Wanner, Christoph; Weidemann, Frank; Solymosi, László; Sommer, Claudia

    2014-01-01

    A high load of white matter lesions and enlarged basilar arteries have been shown in selected patients with Fabry disease, a disorder associated with an increased stroke risk. We studied a large cohort of patients with Fabry disease to differentially investigate white matter lesion load and cerebral artery diameters. We retrospectively analyzed cranial magnetic resonance imaging scans of 87 consecutive Fabry patients, 20 patients with ischemic stroke, and 36 controls. We determined the white matter lesion load applying the Fazekas score on fluid-attenuated inversion recovery sequences and measured the diameters of cerebral arteries on 3D-reconstructions of the time-of-flight-MR-angiography scans. Data of different Fabry patient subgroups (males – females; normal – impaired renal function) were compared with data of patients with stroke and controls. A history of stroke or transient ischemic attacks was present in 4/30 males (13%) and 5/57 (9%) females with Fabry disease, all in the anterior circulation. Only one man with Fabry disease showed confluent cerebral white matter lesions in the Fazekas score assessment (1%). Male Fabry patients had a larger basilar artery (p<0.01) and posterior cerebral artery diameter (p<0.05) compared to male controls. This was independent of disease severity as measured by renal function and did not lead to changes in arterial blood flow properties. A basilar artery diameter of >3.2 mm distinguished between men with Fabry disease and controls (sensitivity: 87%, specificity: 86%, p<0.001), but not from stroke patients. Enlarged arterial diameters of the posterior circulation are present only in men with Fabry disease independent of disease severity. PMID:24475221

  19. Enzyme Enhancers for the Treatment of Fabry and Pompe Disease

    PubMed Central

    Lukas, Jan; Pockrandt, Anne-Marie; Seemann, Susanne; Sharif, Muhammad; Runge, Franziska; Pohlers, Susann; Zheng, Chaonan; Gläser, Anne; Beller, Matthias; Rolfs, Arndt; Giese, Anne-Katrin

    2015-01-01

    Lysosomal storage disorders (LSD) are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure. Therapeutic approaches involve enzyme replacement (ERT), which is effective for a substantial fraction of patients. However, there are still concerns about a number of issues including tissue penetrance, generation of host antibodies against the therapeutic enzyme, and financial aspects, which render this therapy suboptimal for many cases. Treatment with pharmacological chaperones (PC) was recognized as a possible alternative to ERT, because a great number of mutations do not completely abolish enzyme function, but rather trigger degradation in the endoplasmic reticulum. The theory behind PC is that they can stabilize enzymes with remaining function, avoid degradation and thereby ameliorate disease symptoms. We tested several compounds in order to identify novel small molecules that prevent premature degradation of the mutant lysosomal enzymes α-galactosidase A (for Fabry disease (FD)) and acid α-glucosidase (GAA) (for Pompe disease (PD)). We discovered that the expectorant Ambroxol when used in conjunction with known PC resulted in a significant enhancement of mutant α-galactosidase A and GAA activities. Rosiglitazone was effective on α-galactosidase A either as a monotherapy or when administered in combination with the PC 1-deoxygalactonojirimycin. We therefore propose both drugs as potential enhancers of pharmacological chaperones in FD and PD to improve current treatment strategies. PMID:25409744

  20. Enzyme enhancers for the treatment of Fabry and Pompe disease.

    PubMed

    Lukas, Jan; Pockrandt, Anne-Marie; Seemann, Susanne; Sharif, Muhammad; Runge, Franziska; Pohlers, Susann; Zheng, Chaonan; Gläser, Anne; Beller, Matthias; Rolfs, Arndt; Giese, Anne-Katrin

    2015-03-01

    Lysosomal storage disorders (LSD) are a group of heterogeneous diseases caused by compromised enzyme function leading to multiple organ failure. Therapeutic approaches involve enzyme replacement (ERT), which is effective for a substantial fraction of patients. However, there are still concerns about a number of issues including tissue penetrance, generation of host antibodies against the therapeutic enzyme, and financial aspects, which render this therapy suboptimal for many cases. Treatment with pharmacological chaperones (PC) was recognized as a possible alternative to ERT, because a great number of mutations do not completely abolish enzyme function, but rather trigger degradation in the endoplasmic reticulum. The theory behind PC is that they can stabilize enzymes with remaining function, avoid degradation and thereby ameliorate disease symptoms. We tested several compounds in order to identify novel small molecules that prevent premature degradation of the mutant lysosomal enzymes α-galactosidase A (for Fabry disease (FD)) and acid α-glucosidase (GAA) (for Pompe disease (PD)). We discovered that the expectorant Ambroxol when used in conjunction with known PC resulted in a significant enhancement of mutant α-galactosidase A and GAA activities. Rosiglitazone was effective on α-galactosidase A either as a monotherapy or when administered in combination with the PC 1-deoxygalactonojirimycin. We therefore propose both drugs as potential enhancers of pharmacological chaperones in FD and PD to improve current treatment strategies. PMID:25409744

  1. Podocyte Injury and GL-3 Accumulation are Progressive in Young Patients with Fabry Disease

    PubMed Central

    Najafian, Behzad; Svarstad, Einar; Bostad, Leif; Gubler, Marie-Claire; Tøndel, Camilla; Whitley, Chester; Mauer, Michael

    2013-01-01

    Progressive renal failure often complicates Fabry’s disease. However, the pathogenesis of Fabry nephropathy is not well understood. We applied unbiased stereological methods to the study of the electron microscopic changes of Fabry nephropathy and the relationship between glomerular structural parameters and renal function in young Fabry patients. Renal biopsies from 14 (M/F=8/6) enzyme replacement therapy (ERT)-naive Fabry patients (median age 12 years; range 4–19 years) and 9 (M/F=6/3) normal living kidney donor control subjects were studied. Podocyte GL-3 inclusion volume density [Vv(Inc/PC)] increased progressively with age, while there was no significant relationship between age and endothelial [Vv(Inc/Endo)] or mesangial [Vv(Inc/Mes)] inclusion volume densities. Foot process width which was greater in male Fabry patients vs. controls also progressively increased with age, and correlated directly with proteinuria. Endothelial fenestration was reduced in Fabry patients vs. controls. These studies are the first to show relationships between quantitative glomerular structural parameters of Fabry nephropathy and urinary protein excretion. The parallel progression with increasing age in podocyte GL-3 accumulation, foot process widening and proteinuria, strongly suggest that podocyte injury may play a pivotal role in the development and progression of Fabry nephropathy. PMID:21160462

  2. Occupational skin disease.

    PubMed

    Peate, W E

    2002-09-15

    Contact dermatitis, the most common occupational skin disease, is characterized by clearly demarcated areas of rash at sites of exposure. The rash improves on removal of the offending agent. In allergic contact dermatitis, even minute exposures to antigenic substances can lead to a skin rash. Common sensitizing agents include nickel and members of the Rhus genus (e.g., poison ivy, poison oak). Severe skin irritants tend to cause immediate red blisters or burns, whereas weaker irritants produce eczematous skin changes over time. An occupational cause should be suspected when rash occurs in areas that are in contact with oil, grease, or other substances. Direct skin testing (patch or scratch) or radioallergosorbent testing may help to identify a specific trigger. Skin cancer can have an occupational link in workers with prolonged exposure to sunlight and certain chemicals, although it can take decades for lesions to develop. In workers with occupational skin disease, workplace changes and protective measures are important to prevent future exposure. PMID:12358214

  3. Light- and electron-microscopic histochemistry of Fabry's disease.

    PubMed Central

    Faraggiana, T.; Churg, J.; Grishman, E.; Strauss, L.; Prado, A.; Bishop, D. F.; Schuchman, E.; Desnick, R. J.

    1981-01-01

    A histochemical study was performed on light- and electron-microscopic level in a case of Fabry's disease. The patient underwent kidney transplantation for renal failure and died of heart failure 6 months later. Patient's tissues were studied at the light- and electron-microscopic levels with various embedding and staining techniques for lipids and carbohydrates. Two peroxidase-labeled lectins (from Ricinus communis and from Bandeiraea simplicifolia) known to have affinity for alpha- and beta-D-galactose, were strongly reactive with the storage material on frozen sections. The ultrahistochemical and extraction tests showed that the typical granules had a variable reactivity and morphologic characteristics in different cells, probably reflecting different composition. A small number of typical deposits were also observed in the transplanted kidney. This is the first reported case of recurrence of the storage disease in the allograft. Of interest was also the fact that the patient's blood inhibited normal alpha-galactosidase activity, suggesting a possible inhibitor-related mechanism in the pathogenesis of the recurrence. Images Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 6 Figure 7 Figure 8 Figure 9 Figure 10 Figure 11 Figure 12 Figure 13 Figure 14 Figure 15 Figure 16 Figure 17 Figure 18 Figure 19 Figure 20 PMID:6786101

  4. X-chromosome inactivation in female patients with Fabry disease.

    PubMed

    Echevarria, L; Benistan, K; Toussaint, A; Dubourg, O; Hagege, A A; Eladari, D; Jabbour, F; Beldjord, C; De Mazancourt, P; Germain, D P

    2016-01-01

    Fabry disease (FD) is an X-linked genetic disorder caused by the deficient activity of lysosomal α-galactosidase (α-Gal). While males are usually severely affected, clinical presentation in female patients may be more variable ranging from asymptomatic to, occasionally, as severely affected as male patients. The aim of this study was to evaluate the existence of skewed X-chromosome inactivation (XCI) in females with FD, its concordance between tissues, and its contribution to the phenotype. Fifty-six females with FD were enrolled. Clinical and biological work-up included two global scores [Mainz Severity Score Index (MSSI) and DS3], cardiac magnetic resonance imaging, measured glomerular filtration rate, and measurement of α-Gal activity. XCI was analyzed in four tissues using DNA methylation studies. Skewed XCI was found in 29% of the study population. A correlation was found in XCI patterns between blood and the other analyzed tissues although some punctual variability was detected. Significant differences in residual α-Gal levels, severity scores, progression of cardiomyopathy and deterioration of kidney function, depending on the direction and degree of skewing of XCI were evidenced. XCI significantly impacts the phenotype and natural history of FD in females. PMID:25974833

  5. Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry

    PubMed Central

    Ortiz, Alberto; Abiose, Ademola; Bichet, Daniel G; Cabrera, Gustavo; Charrow, Joel; Germain, Dominique P; Hopkin, Robert J; Jovanovic, Ana; Linhart, Aleš; Maruti, Sonia S; Mauer, Michael; Oliveira, João P; Patel, Manesh R; Politei, Juan; Waldek, Stephen; Wanner, Christoph; Yoo, Han-Wook; Warnock, David G

    2016-01-01

    Background Agalsidase β is a form of enzyme replacement therapy for Fabry disease, a genetic disorder characterised by low α-galactosidase A activity, accumulation of glycosphingolipids and life-threatening cardiovascular, renal and cerebrovascular events. In clinical trials, agalsidase β cleared glycolipid deposits from endothelial cells within 6 months; clearance from other cell types required sustained treatment. We hypothesised that there might be a ‘lag time’ to clinical benefit after initiating agalsidase β treatment, and analysed the incidence of severe clinical events over time in patients receiving agalsidase β. Methods The incidence of severe clinical events (renal failure, cardiac events, stroke, death) was studied in 1044 adult patients (641 men, 403 women) enrolled in the Fabry Registry who received agalsidase β (average dose 1 mg/kg every 2 weeks) for up to 5 years. Results The incidence of all severe clinical events was 111 per 1000 person-years (95% CI 84 to 145) during the first 6 months. After 6 months, the incidence decreased and remained stable within the range of 40–58 events per 1000 patient-years. The largest decrease in incidence rates was among male patients and those aged ≥40 years when agalsidase β was initiated. Conclusions Contrary to the expected increased incidence of severe clinical events with time, adult patients with Fabry disease had decreased incidence of severe clinical events after 6 months treatment with agalsidase β 1 mg/kg every 2 weeks. Trial registration number NCT00196742. PMID:26993266

  6. Chemokines and skin diseases.

    PubMed

    Sugaya, Makoto

    2015-04-01

    Chemokines are small molecules that induce chemotaxis and activation of certain subsets of leukocytes. The expression patterns of chemokines and chemokine receptors are specific to certain organs and cells. Therefore, chemokines are important to elucidate the mechanism of organ-specific human diseases. CCL17 expressed by Langerhans cells, blood endothelial cells, and fibroblasts plays a key role in attracting Th2 cells and tumor cells of adult T-cell leukemia/lymphoma and mycosis fungoides/Sézary syndrome into the skin, developing various Th2-type inflammatory skin diseases as well as cutaneous lymphoma. CCL11 and CCL26 expressed by skin-resident cells, such as fibroblasts, blood endothelial cells, and keratinocytes, induce infiltration of CCR3-expressing cells such as Th2 cells and eosinophils. CCL11 may also serve as an autocrine as well as a paracrine in anaplastic large cell lymphoma. CX3CL1 expressed on blood endothelial cells leads to infiltration of CX3CR1(+) immune cells, such as mast cells, neutrophils, and macrophages, playing important roles in wound healing, tumor immunity, and vasculitis. Biologics targeting chemokines and their receptors are promising strategies for various skin diseases that are resistant to the current therapy. PMID:25182982

  7. Fibrosis: a key feature of Fabry disease with potential therapeutic implications

    PubMed Central

    2013-01-01

    Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens life span, and fibrosis of these organs is a hallmark of the disease. Fibrosis was initially thought to result from tissue ischemia secondary to endothelial accumulation of glycosphingolipids in the microvasculature. However, despite ready clearance of endothelial deposits, ERT is less effective in patients who have already developed fibrosis. Several potential explanations of this clinical observation may impact on the future management of Fabry disease. Alternative molecular pathways linking glycosphingolipids and fibrosis may be operative; tissue injury may recruit secondary molecular mediators of fibrosis that are unresponsive to ERT, or fibrosis may represent irreversible tissue injury that limits the therapeutic response to ERT. We provide an overview of Fabry disease, with a focus on the assessment of fibrosis, the clinical consequences of fibrosis, and recent advances in understanding the cellular and molecular mechanisms of fibrosis that may suggest novel therapeutic approaches to Fabry disease. PMID:23915644

  8. The neurocognitive impact of Fabry disease on pediatric patients.

    PubMed

    Bugescu, Nicolle; Alioto, Andrea; Segal, Summer; Cordova, Matthew; Packman, Wendy

    2015-04-01

    Fabry disease (FD) is an X-linked lysosomal storage disorder that results in progressive multisystemic organ complications. Several studies have examined neurocognitive impairments in adults; however, there is a paucity of research examining neurocognitive functioning in children with FD. This is the first exploratory study to examine the neurocognitive functioning of pediatric patients with FD and to evaluate the effects of enzyme replacement therapy (ERT) on neurocognitive functioning within this population. Families attending a national conference with at least one child with FD and one parent affected by FD comprised the sample (n = 48; 24 pediatric patients, 24 parents). Pediatric participants (10 males, 14 females) between the ages of 6 and 18 years and their parent(s) were involved in the study. Data from a demographic questionnaire and two neurocognitive self-report and parent-report measures were analyzed. Parent reports of neurocognitive functioning were also compared to a sample of children with and without head injury and to a sample of children who had undergone liver transplant (LT). Children with FD had poorer cognitive and executive functioning than healthy peers, and were comparable to children with head injury and LT. In addition, children using ERT had higher scores on measures of overall cognitive functioning, as well as fewer problems with attention/working memory and executive functioning. Results of this study suggest that children with FD may exhibit poorer cognitive and executive functioning relative to healthy peers. The use of ERT may mitigate the negative impact of FD on neurocognitive functioning in pediatric patients. PMID:25739920

  9. Identification of a novel GLA mutation (F69 L) in a Japanese patient with late-onset Fabry disease

    PubMed Central

    Umeda, Toshiko; Hashimoto, Seiji; Noriyasu, Kazuyuki; Takamura, Ayumi; Fujisaki, Miwa; Eto, Yoshikatsu

    2015-01-01

    Fabry disease is an X-linked recessive inborn error of glycosphingolipid catabolism caused by a mutation in the GLA gene. We sequenced the α-galactosidase A gene (GLA) of a patient who had been clinically diagnosed with late-onset Fabry disease. Abundant globotriaosylceramide was present in his urine, which indicated typical Fabry disease. Here, we report a novel hemizygous mutation, c.207C>A (Phe69 Leu), which caused a mild/late-onset form of Fabry disease. PMID:27081550

  10. Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease.

    PubMed

    Trimarchi, H; Canzonieri, R; Muryan, A; Schiel, A; Araoz, A; Forrester, M; Karl, A; Lombi, F; Andrews, J; Pomeranz, V; Rengel, T; Zotta, E

    2015-01-01

    The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease. PMID:26064721

  11. Copious Podocyturia without Proteinuria and with Normal Renal Function in a Young Adult with Fabry Disease

    PubMed Central

    Trimarchi, H.; Canzonieri, R.; Muryan, A.; Schiel, A.; Forrester, M.; Karl, A.; Lombi, F.; Andrews, J.; Pomeranz, V.; Rengel, T.; Zotta, E.

    2015-01-01

    The time for starting a patient with Fabry disease on enzyme replacement therapy is still a matter of debate, particularly when no overt classical clinical signs or symptoms are present. With respect to Fabry nephropathy, a dual problem coexists: the reluctance of many nephrologists to start enzyme replacement infusion until signs of renal disease appear as the appearance of proteinuria or an elevation in serum creatinine and the lack of validated biomarkers of early renal damage. In this regard, proteinuria is nowadays considered as an early and appropriate marker of kidney disease and of cardiovascular morbidity and mortality. However, in this report we demonstrate that podocyturia antedates the classical appearance of proteinuria and could be considered as an even earlier biomarker of kidney damage. Podocyturia may be a novel indication for the initiation of therapy in Fabry disease. PMID:26064721

  12. p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease

    PubMed Central

    Ozelsancak, Ruya; Uyar, Bulent

    2016-01-01

    Patient: Male, 39 Final Diagnosis: Fabry disease Symptoms: Acropareshesia • fatique Medication: — Clinical Procedure: Gene analysis Specialty: Metabolic Disorders and Diabetics Objective: Rare disease Background: Fabry disease is an X-linked disorder. Due to deficiency of the enzyme α-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. Case Report: We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband’s mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. Conclusions: Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease. PMID:27156739

  13. Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease

    PubMed Central

    Lelieveld, Irene M.; Böttcher, Anna; Hennermann, Julia B.; Beck, Michael; Fellgiebel, Andreas

    2015-01-01

    Brain structural alterations and neuropsychiatric symptoms have been described repeatedly in Fabry disease, yet cognitive deficits have been shown to be only mild. Here, we aimed to investigate neuropsychiatric symptoms and brain structure longitudinally. We expected no clinically relevant increase of neuropsychiatric symptoms in parallel to increased brain structural alterations. We assessed 14 Fabry patients (46.1 ± 10.8 years) who had participated in our investigation eight years ago. Patients engaged in neuropsychiatric testing, as well as structural magnetic resonance imaging and angiography to determine white matter lesions, hippocampal volume, and the diameter of the larger intracranial arteries. While Fabry patients did not differ on cognitive performance, they showed progressive and significant hippocampal volume loss over the 8-year observation period. White matter lesions were associated with older age and higher white matter lesion load at baseline, but did not reach statistical significance when comparing baseline to follow-up. Likewise, intracranial artery diameters did not increase significantly. None of the imaging parameters were associated with the neuropsychiatric parameters. Depression frequency reduced from 50% at baseline to 21% at follow-up, but it did not reach significance. This investigation demonstrates clinical stability in cognitive function, while pronounced hippocampal atrophy is apparent throughout the 8 years. Our middle-aged Fabry patients appeared to compensate successfully for progressive hippocampal volume loss. The hippocampal volume decline indicates brain regional neuronal involvement in Fabry disease. PMID:26340726

  14. Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease

    PubMed Central

    Costa, Rui M.; Martul, Eduardo V.; Reboredo, Juan M.; Cigarrán, Secundino

    2013-01-01

    Inherited and acquired metabolic disorders are responsible for renal intracellular accumulation of phospholipids. Ultrastructural analysis revealing typical myeloid or zebra bodies was previously thought to be exclusive to Fabry disease. However, chloroquine/hydroxychloroquine toxicity can cause similar abnormalities. Recent studies have mentioned curvilinear bodies (CLB) in renal cells in such cases, never described in Fabry nephropathy. We report a 31-year-old patient with systemic lupus erythematosus who was on long-term hydroxychloroquine treatment. The presence of zebra bodies on electron microscopy lead to initial interpretation of Fabry disease, but subsequent genetic analysis did not show a relevant mutation. Further evaluation revealed CLB in renal cells, supporting the diagnosis of hydroxycholoroquine-induced renal phospholipidosis. PMID:26120446

  15. [Travel and skin diseases].

    PubMed

    Stüttgen, G

    1992-02-20

    The problem "travelling and dermatological diseases" is presented as a temporary change of place with associated changes in ecological conditions. Latent dermatoses may be provoked--but full-blown dermatoses may also improve with no specific treatment (climatic therapy of neurodermatitis). Physiological changes at the surface of the skin brought about by, for example, temperature or the effects of solar radiation, may allow fungal, bacterial or viral infections to develop. Direct contact with the living environment on land or in the water, in particular in the tropics, can lead to the development of diseases. Some dermatoses have a lengthy latency and develop only later at home. Recommendations for general and specific prophylaxis and treatment are made. PMID:1544613

  16. Cardiomyopathy and response to enzyme replacement therapy in a male mouse model for Fabry disease.

    PubMed

    Nguyen Dinh Cat, Aurelie; Escoubet, Brigitte; Agrapart, Vincent; Griol-Charhbili, Violaine; Schoeb, Trenton; Feng, Wenguang; Jaimes, Edgar; Warnock, David G; Jaisser, Frederic

    2012-01-01

    Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as a model for Fabry disease and test the efficacy of Enzyme Replacement Therapy with agalsidase-beta. Male mice (3-4 months of age) were characterized with awake blood pressure and heart rate measurements, cardiac echocardiography and electrocardiography measurements under light anesthesia, histological studies and molecular studies with real-time polymerase chain reaction. The Fabry knock-out mouse has bradycardia and lower blood pressure than control wild type (CB7BL/6J) mice. In Fabry knock-out mice, the cardiomyopathy associated mild hypertrophy at echography with normal systolic LV function and mild diastolic dysfunction. Premature atrial contractions were more frequent in without conduction defect. Heart weight normalized to tibial length was increased in Fabry knock-out mice. Ascending aorta dilatation was observed. Molecular studies were consistent with early stages of cardiac remodeling. A single dose of agalsidase-beta (3 mg/kg) did not affect the LV hypertrophy, function or heart rate, but did improve the mRNA signals of early cardiac remodeling. In conclusion, the alpha-galactosidase A deficient mice at 3 to 4 months of age have cardiac and vascular alterations similar to that described in early clinical stage of Fabry disease in children and adolescents. Enzyme replacement therapy affects cardiac molecular remodeling after a single dose. PMID:22574107

  17. Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease

    PubMed Central

    Shu, Liming; Vivekanandan-Giri, Anuradha; Pennathur, Subramaniam; Smid, Bouwien E; Aerts, Johannes M FG; Hollak, Carla E M; Shayman, James A

    2014-01-01

    The endothelial dysfunction of Fabry disease results from α-galactosidase A deficiency leading to the accumulation of globotriaosylceramide. Vasculopathy in the α-galactosidase A null mouse is manifested as oxidant-induced thrombosis, accelerated atherogenesis, and impaired arterial reactivity. To better understand the pathogenesis of Fabry disease in humans, we generated a human cell model by using RNA interference. Hybrid endothelial cells were transiently transfected with small interfering RNA (siRNA) specifically directed against α-galactosidase A. Knockdown of α-galactosidase A was confirmed using immunoblotting and globotriaosylceramide accumulation. Endothelial nitric oxide synthase (eNOS) activity was correspondingly decreased by >60%. Levels of 3-nitrotyrosine (3NT), a specific marker for reactive nitrogen species and quantified using mass spectrometry, increased by 40- to 120-fold without corresponding changes in other oxidized amino acids, consistent with eNOS-derived reactive nitrogen species as the source of the reactive oxygen species. eNOS uncoupling was confirmed by the observed increase in free plasma and protein-bound aortic 3NT levels in the α-galactosidase A knockout mice. Finally, 3NT levels, assayed in biobanked plasma samples from patients with classical Fabry disease, were over sixfold elevated compared with age- and gender-matched controls. Thus, 3NT may serve as a biomarker for the vascular involvement in Fabry disease. PMID:24402087

  18. Fabry disease and Factor V Leiden: a potent vascular risk combination.

    PubMed

    Tchan, M; Sillence, D

    2011-05-01

    A 45-year-old man with heterozygous Factor V Leiden presented with his third cerebrovascular accident despite being on warfarin at a therapeutic international normalized ratio. Subsequent investigation revealed a second genetic diagnosis of Fabry disease. He then had an acute myocardial infarction whilst on aspirin and warfarin. PMID:21605293

  19. Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis.

    PubMed

    Aguilar-Moncayo, M; Takai, T; Higaki, K; Mena-Barragán, T; Hirano, Y; Yura, K; Li, L; Yu, Y; Ninomiya, H; García-Moreno, M I; Ishii, S; Sakakibara, Y; Ohno, K; Nanba, E; Ortiz Mellet, C; García Fernández, J M; Suzuki, Y

    2012-07-01

    Competitive inhibitors of either α-galactosidase (α-Gal) or β-galactosidase (β-Gal) with high affinity and selectivity have been accessed by exploiting aglycone interactions with conformationally locked sp(2)-iminosugars. Selected compounds were profiled as potent pharmacological chaperones for mutant lysosomal α- and β-Gal associated with Fabry disease and GM(1) gangliosidosis. PMID:22618082

  20. Keratins and skin disease.

    PubMed

    Knöbel, Maria; O'Toole, Edel A; Smith, Frances J D

    2015-06-01

    Mutations in keratin genes cause a diverse spectrum of skin, hair and mucosal disorders. Cutaneous disorders include epidermolysis bullosa simplex, palmoplantar keratoderma, epidermolytic ichthyosis and pachyonychia congenita. Both clinical and laboratory observations confirm a major role for keratins in maintaining epidermal cell-cell adhesion. When normal tissue homeostasis is disturbed, for example, during wound healing and cancer, keratins play an important non-mechanical role. Post-translational modifications including glycosylation and phosphorylation of keratins play an important role in protection of epithelial cells from injury. Keratins also play a role in modulation of the immune response. A current focus in the area of keratins and disease is the development of new treatments including small inhibitory RNA (siRNA) to mutant keratins and small molecules to modulate keratin expression. PMID:25620412

  1. Occupational Skin Diseases in Korea

    PubMed Central

    Kim, Min-Gi

    2010-01-01

    Skin disease is the most common occupational disease, but the reported number is small in Korea due to a difficulty of detection and diagnosis in time. We described various official statistics and data from occupational skin disease surveillance system, epidemiological surveys and cases published in scientific journals. Until 1981, 2,222 cases of occupational skin disease were reported by Korean employee's regular medical check-up, accounting for 4.9% of the total occupational diseases. There was no subsequent official statistics to figure out occupational skin diseases till 1998. From 1999, the Korea Occupational Safety and Health Agency (KOSHA) published the number of occupational skin diseases through the statistics of Cause Investigation for Industrial Accidents. A total of 301 cases were reported from 1999 to 2007. Recent one study showed the figures of compensated occupational skin diseases. Many of them belonged to daily-paid workers in the public service, especially forestry workers. Also, it described the interesting cases such as vitiligo and trichloroethylene-induced Stevens-Johnson Syndrome. Skin diseases are still important though the number of cases has decreased, and therefore it is recommended to grasp the status of occupational skin diseases through continuous surveillance system and to make policy protecting high-risk group. PMID:21258591

  2. Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction Versus Treatment Switch

    PubMed Central

    Krämer, Johannes; Duning, Thomas; Lenders, Malte; Canaan-Kühl, Sima; Krebs, Alice; González, Hans Guerrero; Sommer, Claudia; Üçeyler, Nurcan; Niemann, Markus; Störk, Stefan; Schelleckes, Michael; Reiermann, Stefanie; Stypmann, Jörg; Brand, Stefan-Martin; Wanner, Christoph; Brand, Eva

    2014-01-01

    Because of the shortage of agalsidase-beta in 2009, many patients with Fabry disease were treated with lower doses or were switched to agalsidase-alfa. This observational study assessed end-organ damage and clinical symptoms during dose reduction or switch to agalsidase-alfa. A total of 105 adult patients with Fabry disease who had received agalsidase-beta (1.0 mg/kg body weight) for ≥1 year were nonrandomly assigned to continue this treatment regimen (regular-dose group, n=38), receive a reduced dose of 0.3–0.5 mg/kg (dose-reduction group, n=29), or switch to 0.2 mg/kg agalsidase-alfa (switch group) and were followed prospectively for 1 year. We assessed clinical events (death, myocardial infarction, severe arrhythmia, stroke, progression to ESRD); changes in cardiac, renal, and neurologic function; and Fabry-related symptoms (neuropathic pain, hypohidrosis, diarrhea, and disease severity scores). Organ function and Fabry-related symptoms remained stable in the regular-dose group. In contrast, estimated GFR decreased by about 3 ml/min per 1.73 m2 (P=0.01) in the dose-reduction group, and the median albumin-to-creatinine ratio increased from 114 (0–606) mg/g to 216 (0–2062) mg/g (P=0.03) in the switch group. Furthermore, mean Mainz Severity Score Index scores and frequencies of pain attacks, chronic pain, gastrointestinal pain, and diarrhea increased significantly in the dose-reduction and switch groups. In conclusion, patients receiving regular agalsidase-beta dose had a stable disease course, but dose reduction led to worsening of renal function and symptoms. Switching to agalsidase-alfa is safe, but microalbuminuria may progress and Fabry-related symptoms may deteriorate. PMID:24556354

  3. Skin Diseases in the Tropics.

    ERIC Educational Resources Information Center

    Mahe, Antoine; And Others

    1994-01-01

    Common skin diseases are prevalent in tropical countries because of extreme weather conditions, mediocre hygiene, and lack of adequate treatment of infectious dermatoses. This guide describes the major endemic skin diseases and their signs for the purpose of helping unspecialized health agents train themselves and determine when a patient should…

  4. Parkinson's disease and the skin.

    PubMed

    Gregory, Ralph; Miller, Sarah

    2015-08-01

    The concept that the skin is a mirror of Parkinson's disease dates to the start of the last century. Despite dermatological disorders being recognised as a common non-motor symptom of Parkinson's disease, they are often overlooked. This article reviews the various skin disorders seen in Parkinson's disease and addresses the other dermatological questions that are frequently raised by those attending Parkinson's disease clinics. PMID:25862733

  5. p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease.

    PubMed

    Ozelsancak, Ruya; Uyar, Bulent

    2016-01-01

    BACKGROUND Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and delayed diagnosis are common because of the nature of Fabry disease. CASE REPORT We report a case of Fabry disease with a p.R301X (c.901 C>T) mutation in a 39-year-old man who was being treated for chronic sclerosing glomerulonephritis for 2 years. Family screening tests showed that the proband's mother, sister, and daughter had the same mutation with different phenotypes. Levels of α-galactosidase A were low in the proband and his mother and sister. Cornea verticillata and heart involvement were present in multiple family members. Agalsidase alfa treatment was started in patients where indicated. CONCLUSIONS Pedigree analysis is still a powerful, readily available tool to identify individuals at risk for genetic diseases and allows earlier detection and management of disease. PMID:27156739

  6. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

    PubMed Central

    Germain, Dominique P; Charrow, Joel; Desnick, Robert J; Guffon, Nathalie; Kempf, Judy; Lachmann, Robin H; Lemay, Roberta; Linthorst, Gabor E; Packman, Seymour; Scott, C Ronald; Waldek, Stephen; Warnock, David G; Weinreb, Neal J; Wilcox, William R

    2015-01-01

    Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We assessed the 10-year outcome of recombinant α-galactosidase A therapy. Methods The outcomes (severe clinical events, renal function, cardiac structure) of 52/58 patients with classic Fabry disease from the phase 3 clinical trial and extension study, and the Fabry Registry were evaluated. Disease progression rates for patients with low renal involvement (LRI, n=32) or high renal involvement (HRI, n=20) at baseline were assessed. Results 81% of patients (42/52) did not experience any severe clinical event during the treatment interval and 94% (49/52) were alive at the end of the study period. Ten patients reported a total of 16 events. Patients classified as LRI started therapy 13 years younger than HRI (mean 25 years vs 38 years). Mean slopes for estimated glomerular filtration rate for LRI and HRI were −1.89 mL/min/1.73 m2/year and −6.82 mL/min/1.73 m2/year, respectively. Overall, the mean left ventricular posterior wall thickness and interventricular septum thickness remained unchanged and normal. Patients who initiated treatment at age ≥40 years exhibited significant increase in left ventricular posterior wall thickness and interventricular septum thickness. Mean plasma globotriaosylceramide normalised within 6 months. Conclusions This 10-year study documents the effectiveness of agalsidase beta (1 mg/kg/2 weeks) in patients with Fabry disease. Most patients remained alive and event-free. Patients who initiated treatment at a younger age and with less kidney involvement benefited the most from therapy. Patients who initiated treatment at older ages and/or had advanced renal disease experienced disease progression. PMID:25795794

  7. Skin Diseases: Skin and Sun—Not a good mix

    MedlinePlus

    ... Current Issue Past Issues Skin Diseases Skin and Sun —Not a good mix Past Issues / Fall 2008 ... turn Javascript on. Good skin care begins with sun safety. Whether it is something as simple as ...

  8. Skin Diseases: Skin and Sun—Not a good mix

    MedlinePlus

    Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Skin and Sun —Not a good mix Past Issues / ... of this page please turn Javascript on. Good skin care begins with sun safety. Whether it is ...

  9. Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model

    PubMed Central

    Lakomá, Jarmila; Rimondini, Roberto; Ferrer Montiel, Antonio; Donadio, Vincenzo; Liguori, Rocco

    2016-01-01

    Fabry disease is a X-linked lysosomal storage disorder caused by deficient function of the alpha-galactosidase A (α-GalA) enzyme. α-GalA deficiency leads to multisystemic clinical manifestations caused by the preferential accumulation of globotriaosylceramide (Gb3) in the endothelium and vascular smooth muscles. A hallmark symptom of Fabry disease patients is neuropathic pain that appears in the early stage of the disease as a result of peripheral small fiber damage. The α-GalA gene null mouse model (α-GalA(−/0)) has provided molecular evidence for the molecular alterations in small type-C nociceptors in Fabry disease that may underlie their hyperexcitability, although the specific mechanism remains elusive. Here, we have addressed this question and report that small type-C nociceptors from α-GalA(−/0) mice exhibit a significant increase in the expression and function of the TRPV1 channel, a thermoTRP channel implicated in painful heat sensation. Notably, male α-GalA(−/0) mice displayed a ≈2-fold higher heat sensitivity than wild-type animals, consistent with the augmented expression levels and activity of TRPV1 in α-GalA(−/0) nociceptors. Intriguingly, blockade of neuronal exocytosis with peptide DD04107, a process that inhibits among others the algesic membrane recruitment of TRPV1 channels in peptidergic nociceptors, virtually eliminated the enhanced heat nociception of α-GalA(−/0) mice. Together, these findings suggest that the augmented expression of TRPV1 in α-GalA(−/0) nociceptors may underly at least in part their increased heat sensitivity, and imply that blockade of peripheral neuronal exocytosis may be a valuable pharmacological strategy to reduce pain in Fabry disease patients, increasing their quality of life. PMID:27531673

  10. Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

    PubMed Central

    Baptista, Ana; Magalhães, Pedro; Leão, Sílvia; Carvalho, Sofia; Mateus, Pedro; Moreira, Ilídio

    2015-01-01

    Background Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. Objective To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. Methods The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. Results A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. Conclusion In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5). PMID:26269958

  11. Increased expression of Trpv1 in peripheral terminals mediates thermal nociception in Fabry disease mouse model.

    PubMed

    Lakomá, Jarmila; Rimondini, Roberto; Ferrer Montiel, Antonio; Donadio, Vincenzo; Liguori, Rocco; Caprini, Marco

    2016-01-01

    Fabry disease is a X-linked lysosomal storage disorder caused by deficient function of the alpha-galactosidase A (α-GalA) enzyme. α-GalA deficiency leads to multisystemic clinical manifestations caused by the preferential accumulation of globotriaosylceramide (Gb3) in the endothelium and vascular smooth muscles. A hallmark symptom of Fabry disease patients is neuropathic pain that appears in the early stage of the disease as a result of peripheral small fiber damage. The α-GalA gene null mouse model (α-GalA(-/0)) has provided molecular evidence for the molecular alterations in small type-C nociceptors in Fabry disease that may underlie their hyperexcitability, although the specific mechanism remains elusive. Here, we have addressed this question and report that small type-C nociceptors from α-GalA(-/0) mice exhibit a significant increase in the expression and function of the TRPV1 channel, a thermoTRP channel implicated in painful heat sensation. Notably, male α-GalA(-/0) mice displayed a ≈2-fold higher heat sensitivity than wild-type animals, consistent with the augmented expression levels and activity of TRPV1 in α-GalA(-/0) nociceptors. Intriguingly, blockade of neuronal exocytosis with peptide DD04107, a process that inhibits among others the algesic membrane recruitment of TRPV1 channels in peptidergic nociceptors, virtually eliminated the enhanced heat nociception of α-GalA(-/0) mice. Together, these findings suggest that the augmented expression of TRPV1 in α-GalA(-/0) nociceptors may underly at least in part their increased heat sensitivity, and imply that blockade of peripheral neuronal exocytosis may be a valuable pharmacological strategy to reduce pain in Fabry disease patients, increasing their quality of life. PMID:27531673

  12. Cardiac and skeletal myopathy in Fabry disease: a clinicopathologic correlative study.

    PubMed

    Chimenti, Cristina; Padua, Luca; Pazzaglia, Costanza; Morgante, Emanuela; Centurion, Carlos; Antuzzi, Daniela; Russo, Matteo A; Frustaci, Andrea

    2012-09-01

    Skeletal muscle disturbances are commonly reported in patients with Fabry disease. Whether they derive from cardiac dysfunction or direct muscle involvement is still unclear. Clinical, noninvasive, and invasive cardiac and muscle studies, including an endomyocardial and muscle biopsy, were obtained in 12 patients (mean age, 42.1 ± 12.6 years; range, 24-58 years) with Fabry disease. In the youngest patients (group A, 4 men aged <35 years), results of cardiac and skeletal noninvasive studies were normal, except for reduced velocities in tissue Doppler imaging. Histologic examination indicated that muscle myocytes were unaffected, whereas muscle vessels showed the presence of mild glycosphingolipid accumulation in endothelial and smooth muscle cells. In the heart, cardiomyocytes and endothelial and smooth muscle cells of intramural cardiac vessels were involved by the disease. The oldest patients (group B, 6 men and 2 women aged >35 years) showed ultrasound muscle disarray and electromyography signs of myopathy, increased left ventricular mass, and normal cardiac function. Histologic examination showed that muscle myocytes contained mild glycosphingolipid accumulation compared with severe engulfment of cardiomyocytes. Moreover, similar infiltration of myocardial and muscle intramural vessels, causing lumen narrowing and fibrofatty tissue replacement, was observed. Direct muscle involvement occurs in patients with Fabry disease. It is milder and delayed compared with that in the heart. The difference in organ function and the need of residual α-galactosidase A activity are the likely causes. PMID:22406371

  13. Skin Diseases and the Adolescent

    ERIC Educational Resources Information Center

    Bauer, Marjorie

    1970-01-01

    Discusses such concerns as acne, syphilis, drug abuse, and tatoos. Indicates need for physician not only to treat skin diseases but to help adolescents to accept themselves and find constructive directions. (CJ)

  14. Noninfectious skin diseases of cattle.

    PubMed

    Manning, T O

    1984-03-01

    The noninfectious bovine skin disorders can best be summarized by four factors: environmental, nutritional, congenital, and neoplastic. This article has attempted to address the etiology, treatment, and prevention of most of these noninfectious diseases. PMID:6740876

  15. Skin Diseases: Cross-section of human skin

    MedlinePlus

    Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Cross-section of human skin Past Issues / Fall 2008 Table of Contents For ... Logical Images, Inc. I n the areas of skin health and skin diseases, the NIH's National Institute ...

  16. Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.

    PubMed

    Tajima, Youichi; Kawashima, Ikuo; Tsukimura, Takahiro; Sugawara, Kanako; Kuroda, Mayuko; Suzuki, Toshihiro; Togawa, Tadayasu; Chiba, Yasunori; Jigami, Yoshifumi; Ohno, Kazuki; Fukushige, Tomoko; Kanekura, Takuro; Itoh, Kohji; Ohashi, Toya; Sakuraba, Hitoshi

    2009-11-01

    A modified alpha-N-acetylgalactosaminidase (NAGA) with alpha-galactosidase A (GLA)-like substrate specificity was designed on the basis of structural studies and was produced in Chinese hamster ovary cells. The enzyme acquired the ability to catalyze the degradation of 4-methylumbelliferyl-alpha-D-galactopyranoside. It retained the original NAGA's stability in plasma and N-glycans containing many mannose 6-phosphate (M6P) residues, which are advantageous for uptake by cells via M6P receptors. There was no immunological cross-reactivity between the modified NAGA and GLA, and the modified NAGA did not react to serum from a patient with Fabry disease recurrently treated with a recombinant GLA. The enzyme cleaved globotriaosylceramide (Gb3) accumulated in cultured fibroblasts from a patient with Fabry disease. Furthermore, like recombinant GLA proteins presently used for enzyme replacement therapy (ERT) for Fabry disease, the enzyme intravenously injected into Fabry model mice prevented Gb3 storage in the liver, kidneys, and heart and improved the pathological changes in these organs. Because this modified NAGA is hardly expected to cause an allergic reaction in Fabry disease patients, it is highly promising as a new and safe enzyme for ERT for Fabry disease. PMID:19853240

  17. Infrared imaging microscopy of bone: Illustrations from a mouse model of Fabry disease

    PubMed Central

    Boskey, Adele L.; Goldberg, Michel; Kulkarni, Ashok; Gomez, Santiago

    2006-01-01

    Bone is a complex tissue whose composition and properties vary with age, sex, diet, tissue type, health and disease. In this review, we demonstrate how infrared spectroscopy and infrared spectroscopic imaging can be applied to the study of these variations. A specific example of mice with Fabry disease (a lipid storage disease) is presented in which it is demonstrated that the bones of these young animals, while showing typical spatial variation in mineral content, mineral crystal size, and collagen maturity, do not differ from the bones of age- and sex-matched wild type animals. PMID:16697974

  18. Assessment of Renal Pathology and Dysfunction in Pediatric Patients with Fabry Disease

    PubMed Central

    Ramaswami, Uma; Najafian, Behzad; Schieppati, Arrigo; Mauer, Michael; Bichet, Daniel G.

    2016-01-01

    Overt renal disease often first presents in males with Fabry disease in early-to-mid adulthood, but proteinuria and reduced glomerular filtration rate may occur in adolescents and in young children. More recently, kidney biopsy data have shown early renal histological changes in pediatric patients. Renal investigations and their timing in children remain poorly defined. A consensus on renal investigations is necessary to understand the natural progression of the disease and to evaluate the efficacy of treatments such as enzyme replacement therapies. This manuscript addresses three main categories, including the use of glomerular filtration rates, measuring albuminuria and renal biopsies in children. PMID:20056758

  19. Metabolomic Discovery of Novel Urinary Galabiosylceramide Analogs as Fabry Disease Biomarkers

    NASA Astrophysics Data System (ADS)

    Boutin, Michel; Auray-Blais, Christiane

    2015-03-01

    Fabry disease is an X-linked, complex, multisystemic lysosomal storage disorder presenting marked phenotypic and genotypic variability among affected male and female patients. Glycosphingolipids, mainly globotriaosylceramide (Gb3) isoforms/analogs, globotriaosylsphingosine (lyso-Gb3) and analogs, as well as galabiosylceramide (Ga2) isoforms/analogs accumulate in the vascular endothelium, nerves, cardiomyocytes, renal glomerular and tubular epithelial cells, and biological fluids. The search for biomarkers reflecting disease severity and progression is still on-going. A metabolomic study using quadrupole time-of-flight mass spectrometry has revealed 22 galabiosylceramide isoforms/analogs in urine of untreated Fabry patients classified in seven groups according to their chemical structure: (1) Saturated fatty acid; (2) one extra double bond; (3) two extra double bonds; (4) hydroxylated saturated fatty acid; (5) hydroxylated fatty acid and one extra double bond; (6) hydrated sphingosine and hydroxylated fatty acid; (7) methylated amide linkage. Relative quantification of both Ga2 and Gb3 isoforms/analogs was performed. All these biomarkers are significantly more abundant in urine samples from untreated Fabry males compared with healthy male controls. A significant amount of Ga2 isoforms/analogs, accounting for 18% of all glycosphingolipids analyzed (Ga2 + Gb3 and respective isoforms/analogs), were present in urine of Fabry patients. Gb3 isoforms containing saturated fatty acids are the most abundant (60.9%) compared with 26.3% for Ga2. A comparison between Ga2 isoforms/analogs and their Gb3 counterparts also showed that the proportion of analogs with hydroxylated fatty acids is significantly greater for Ga2 (35.8%) compared with Gb3 (1.9%). These results suggest different biological pathways involved in the synthesis and/or degradation of Gb3 and Ga2 metabolites.

  20. Sudoscan as a noninvasive tool to assess sudomotor dysfunction in patients with Fabry disease: results from a case–control study

    PubMed Central

    Sahuc, Pauline; Chiche, Laurent; Dussol, Bertrand; Pouget, Jean; Franques, Jérôme

    2016-01-01

    Hypohidrosis is a frequent and early symptom in patients with Fabry disease. Studies have reported improved sweating in patients treated with enzyme-replacement therapy. A new method, Sudoscan, has been developed that is noninvasive, is quantitative, and can quickly evaluate sweat gland function. It is based on the electrochemical reaction between sweat chlorides and stainless-steel electrodes in contact with the palms and soles. The aim of our study was to evaluate the Sudoscan as a tool to assess sudomotor dysfunction in patients with Fabry disease. Consecutive patients were prospectively recruited who had a diagnosis of Fabry disease, which had been confirmed genetically and/or by measurement of α-galactosidase activity in leukocytes. Healthy controls, matched (1:1) for age and sex, were also enrolled. Test results were expressed immediately as electrochemical skin conductance (ESC, µS) for hands and feet. Sudomotor dysfunction was considered absent, moderate, or severe if the ESC measured on the feet was >60 µS, between 60 and 40 µS, or <40 µS, respectively. Among the 18 patients, 11 had hypohidrosis or anhidrosis. Hand and feet ESCs were significantly lower in patients compared to their controls (P=0.0015 and P=0.0047, respectively). Among patients, 8/18 (44.5%) had a sudomotor dysfunction, moderate in three and severe in five cases. Hand and feet ESCs were significantly lower in those with hypohidrosis/anhidrosis compared to those without (P=0.0014 and P=0.0056, respectively). This study showed that Sudoscan provided a quick, noninvasive, and quantitative measurement of sudomotor function in Fabry disease patients. PMID:26893567

  1. Insulin Resistance and Skin Diseases

    PubMed Central

    Napolitano, Maddalena; Megna, Matteo; Monfrecola, Giuseppe

    2015-01-01

    In medical practice, almost every clinician may encounter patients with skin disease. However, it is not always easy for physicians of all specialties to face the daily task of determining the nature and clinical implication of dermatologic manifestations. Are they confined to the skin, representing a pure dermatologic event? Or are they also markers of internal conditions relating to the patient's overall health? In this review, we will discuss the principal cutaneous conditions which have been linked to metabolic alterations. Particularly, since insulin has an important role in homeostasis and physiology of the skin, we will focus on the relationships between insulin resistance (IR) and skin diseases, analyzing strongly IR-associated conditions such as acanthosis nigricans, acne, and psoriasis, without neglecting emerging and potential scenarios as the ones represented by hidradenitis suppurativa, androgenetic alopecia, and hirsutism. PMID:25977937

  2. Skin disease in pregnancy.

    PubMed

    Soutou, Boutros; Aractingi, Sélim

    2015-07-01

    Skin manifestations during pregnancy are common and diversified. This review will focus on the most important entities to be recognized by obstetricians. These are, on the one hand, physiological changes, where unnecessary investigations should be avoided, and on the other, the specific dermatoses of pregnancy. These develop electively in pregnancy, and they are currently grouped into three disorders: polymorphic eruption of pregnancy, atopic eczema of pregnancy, and pemphigoid gestationis. Arguments for recognition of these are presented including detection of anti-BP180 antibodies. Follow-up and treatment depend on the precise diagnosis. Risks in fetal prognosis may occur in rare pemphigoid gestationis cases. PMID:25862358

  3. Agalsidase alfa: a review of its use in the management of Fabry disease.

    PubMed

    Keating, Gillian M

    2012-10-01

    The enzyme replacement therapy agalsidase alfa (Replagal®) has an amino acid sequence identical to that of native α-galactosidase A; intravenous agalsidase alfa 0.2 mg/kg every other week is indicated for the long-term treatment of patients with confirmed Fabry disease. This article reviews the efficacy and tolerability of agalsidase alfa in patients with Fabry disease, as well as summarizing its pharmacologic properties. Agalsidase alfa had beneficial effects in adult men with Fabry disease, according to the results of two randomized, double-blind, placebo-controlled, 6-month trials (n = 15 and 26). For example, left ventricular mass index was reduced to a significantly greater extent with agalsidase alfa than with placebo. Although the change in myocardial globotriaosylceramide content (primary endpoint in one study) did not significantly differ between agalsidase alfa and placebo recipients, the change in the Brief Pain Inventory (BPI) 'pain at its worst' score (reflecting neuropathic pain while without pain medications; primary endpoint in the second study) was improved to a significantly greater extent with agalsidase alfa than with placebo. In addition, the change in creatinine clearance, but not inulin clearance, significantly favored agalsidase alfa versus placebo recipients. Abnormalities in functional cerebral blood flow and cerebrovascular responses were also reversed with agalsidase alfa therapy. In extensions of these placebo-controlled trials, the reduction in left ventricular mass and improvements in BPI pain scores were maintained after longer-term agalsidase alfa therapy. The significant decline in estimated glomerular filtration rate (eGFR) seen after 48 months' agalsidase alfa treatment was mainly driven by a marked decline in eGFR seen in four patients with stage 3 chronic kidney disease at baseline (although the progression of decline appeared slower than that seen in historic controls); renal function appeared stable in patients with

  4. Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.

    PubMed

    Riera, Casandra; Lois, Sergio; Domínguez, Carmen; Fernandez-Cadenas, Israel; Montaner, Joan; Rodríguez-Sureda, Victor; de la Cruz, Xavier

    2015-01-01

    Loss-of-function mutations of the enzyme alpha-galactosidase A (GLA) causes Fabry disease (FD), that is a rare and potentially fatal disease. Identification of these pathological mutations by sequencing is important because it allows an early treatment of the disease. However, before taking any treatment decision, if the mutation identified is unknown, we first need to establish if it is pathological or not. General bioinformatic tools (PolyPhen-2, SIFT, Condel, etc.) can be used for this purpose, but their performance is still limited. Here we present a new tool, specifically derived for the assessment of GLA mutations. We first compared mutations of this enzyme known to cause FD with neutral sequence variants, using several structure and sequence properties. Then, we used these properties to develop a family of prediction methods adapted to different quality requirements. Trained and tested on a set of known Fabry mutations, our methods have a performance (Matthews correlation: 0.56-0.72) comparable or better than that of the more complex method, Polyphen-2 (Matthews correlation: 0.61), and better than those of SIFT (Matthews correl.: 0.54) and Condel (Matthews correl.: 0.51). This result is validated in an independent set of 65 pathological mutations, for which our method displayed the best success rate (91.0%, 87.7%, and 73.8%, for our method, PolyPhen-2 and SIFT, respectively). These data confirmed that our specific approach can effectively contribute to the identification of pathological mutations in GLA, and therefore enhance the use of sequence information in the identification of undiagnosed Fabry patients. PMID:25382311

  5. Long Term Treatment with Enzyme Replacement Therapy in Patients with Fabry Disease.

    PubMed

    Oder, Daniel; Nordbeck, Peter; Wanner, Christoph

    2016-01-01

    Anderson-Fabry disease is a potentially life-threatening hereditary lysosomal storage disorder taking origin in over 1,000 known pathogenic mutations in the alpha-galactosidase A encoding gene. Over the past 15 years, intravenous replacement therapy of the deficient alpha agalsidase A enzyme has been well-established retarding the progression of a multisystemic disease and organ involvement. Despite this innovative treatment approach, premature deaths still do occur. The response to enzyme replacement therapy (ERT) varies considerably and appears to depend on gender, genotype (classic or later onset/non-classic), stage of disease or age and agalsidase inhibition by anti-agalsidase antibodies. Early ERT treatment at young age, a personalized approach, and adjunctive therapies for specific disease manifestations appear to impact on prognosis and are currently favored with the expectance of more effective intravenous and oral treatments in the short future. PMID:27576727

  6. Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea

    PubMed Central

    Kim, Jeong-Yup; Hyun, Young-Youl; Lee, Ji-Eun; Yoon, Hye-Ran; Kim, Gu-Hwan; Yoo, Han-Wook; Cho, Seong-Tae; Chun, No-Won; Jeoung, Byoung-Chunn; Kim, Hwa-Jung; Kim, Keong-Wook; Kim, Seong-Nam; Kim, Yung-A; Lee, Hyun-Ah; Lee, Jong-Young; Lee, Yung-Chun; Lim, Hun-Kwan; Oh, Keong-Sik; Son, Seong-Hwan; Yu, Beong-Hee; Wee, Kyeong-So; Lee, Eun-Jong; Lee, Young-Ki; Noh, Jung-Woo; Kim, Seung-Jung; Choi, Kyu-Bok; Yu, Suk-Hee; Pyo, Heui-Jung

    2010-01-01

    Background/Aims Fabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence of unrecognized Fabry disease in dialysis-dependent patients and the efficacy of serum globotriaosylceramide (GL3) screening. Methods A total of 480 patients of 1,230 patients among 17 clinics were enrolled. Serum GL3 levels were measured by tandem mass spectrometry. Additionally, we studied the association between increased GL3 levels and cardiovascular disease, cerebrovascular disease, or left ventricular hypertrophy. Results Twenty-nine patients had elevated serum GL3 levels. The α-GaL A activity was determined for the 26 patients with high GL3 levels. The mean α-GaL A activity was 64.6 nmol/hr/mg (reference range, 45 to 85), and no patient was identified with decreased α-GaL A activity. Among the group with high GL3 levels, 15 women had a α-GaL A genetics analysis. No point mutations were discovered among the women with high GL3 levels. No correlation was observed between serum GL3 levels and α-GaL A activity; the Pearson correlation coefficient was 0.01352 (p = 0.9478). No significant correlation was observed between increased GL3 levels and the frequency of cardiovascular disease or cerebrovascular disease. Conclusions Fabry disease is very rare disease in patients with end-stage renal disease. Serum GL3 measurements as a screening method for Fabry disease showed a high false-positive rate. Thus, serum GL3 levels determined by tandem mass spectrometry may not be useful as a screening method for Fabry disease in patients with end stage renal disease. PMID:21179280

  7. Multiplex Newborn Screening for Pompe, Fabry, Hunter, Gaucher, and Hurler Diseases Using a Digital Microfluidic Platform

    PubMed Central

    Sista, Ramakrishna S.; Wang, Tong; Wu, Ning; Graham, Carrie; Eckhardt, Allen; Winger, Theodore; Srinivasan, Vijay; Bali, Deeksha; Millington, David S.; Pamula, Vamsee K.

    2013-01-01

    Purpose New therapies for lysosomal storage diseases (LSDs) have generated interest in screening newborns for these conditions. We present performance validation data on a digital microfluidic platform that performs multiplex enzymatic assays for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases. Methods We developed an investigational disposable digital microfluidic cartridge that uses a single dried blood spot (DBS) punch for performing a 5-plex fluorometric enzymatic assay on up to 44 DBS samples. Precision and linearity of the assays were determined by analyzing quality control DBS samples; clinical performance was determined by analyzing 600 presumed normal and known affected samples (12 for Pompe, 7 for Fabry and 10 each for Hunter, Gaucher and Hurler). Results Overall coefficient of variation (CV) values between cartridges, days, instruments, and operators ranged from 2 to 21%; linearity correlation coefficients were ≥ 0.98 for all assays. The multiplex enzymatic assay performed from a single DBS punch was able to discriminate presumed normal from known affected samples for 5 LSDs. Conclusions Digital microfluidic technology shows potential for rapid, high-throughput screening for 5 LSDs in a newborn screening laboratory environment. Sample preparation to enzymatic activity on each cartridge is less than 3 hours. PMID:23660237

  8. Nutrition and bullous skin diseases.

    PubMed

    Fedeles, Flavia; Murphy, Michael; Rothe, Marti J; Grant-Kels, Jane M

    2010-01-01

    Autoimmune and nonautoimmune bullous diseases can both be associated with significant morbidity and mortality. Although our understanding of the pathogenic mechanisms of these diseases has increased tremendously, there is still much to learn about the various factors affecting their onset, course, and therapy. In recent years, increasing information has been published about the effect of vitamins, minerals, and other nutrients on bullous skin diseases. Some factors are believed to be inducers (thiol and phenol-containing foods in pemphigus), whereas others are believed to be protective (antioxidants in cutaneous porphyrias). This contribution reviews the evidence in the literature of the role of various dietary factors in bullous diseases, including the nonautoimmune and the deficiency dermatoses. Additional studies and new investigations are needed to provide a better understanding of the specific associations of dietary factors with bullous diseases and better management for patients affected by these conditions. PMID:21034987

  9. One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease

    PubMed Central

    Najafian, Behzad; Tøndel, Camilla; Svarstad, Einar; Sokolovkiy, Alexey; Smith, Kelly; Mauer, Michael

    2016-01-01

    Fabry nephropathy is associated with progressive accumulation of globotriaosylceramide (GL3) in podocytes. Reducing this GL3 burden may reduce podocyte injury. Sensitive methods to quantify podocyte GL3 content may determine whether a given strategy can benefit podocytes in Fabry disease. We developed an unbiased electron microscopic stereological method to estimate the average volume of podocytes and their GL3 inclusions in 6 paired pre- and post-enzyme replacement therapy (ERT) biopsies from 5 men with Fabry disease. Podocyte GL3 content was regularly reduced (average 73%) after 11–12 months of ERT. This was not detectable using a semi-quantitative approach. Parallel to GL3 reduction, podocytes became remarkably smaller (average 63%). These reductions in podocyte GL3 content or size were not significantly correlated with changes in foot process width (FPW). However, FPW after ERT was significantly correlated with the magnitude of the decrease in podocyte GL3 content from baseline to 11–12 months of ERT. Also podocytes exocytosed GL3 inclusions, a phenomenon correlated with their reduction in their GL3 content. Demonstrable after11–12 months, reduction in podocyte GL3 content allows for early assessment of treatment efficacy and shorter clinical trials in Fabry disease. PMID:27081853

  10. Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.

    PubMed Central

    Calhoun, D H; Bishop, D F; Bernstein, H S; Quinn, M; Hantzopoulos, P; Desnick, R J

    1985-01-01

    Fabry disease is an X-linked inborn error of metabolism resulting from the deficient activity of the lysosomal hydrolase, alpha-galactosidase A (alpha-Gal A; alpha-D-galactoside galactohydrolase, EC 3.2.1.22). To investigate the structure, organization, and expression of alpha-Gal A, as well as the nature of mutations in Fabry disease, a clone encoding human alpha-Gal A was isolated from a lambda gt11 human liver cDNA expression library. To facilitate screening, an improved affinity purification procedure was used to obtain sufficient homogeneous enzyme for production of monospecific antibodies and for amino-terminal and peptide microsequencing. On the basis of an amino-terminal sequence of 24 residues, two sets of oligonucleotide mixtures were synthesized corresponding to adjacent, but not overlapping, amino acid sequences. In addition, an oligonucleotide mixture was synthesized based on a sequence derived from an alpha-Gal A internal tryptic peptide isolated by reversed-phase HPLC. Four positive clones were initially identified by antibody screening of 1.4 X 10(7) plaques. Of these, only one clone (designated lambda AG18) demonstrated both antibody binding specificity by competition studies using homogeneous enzyme and specific hybridization to synthetic oligonucleotide mixtures corresponding to amino-terminal and internal amino acid sequences. Nucleotide sequencing of the 5' end of the 1250-base-pair EcoRI insert of clone lambda AG18 revealed an exact correspondence between the predicted and known amino-terminal amino acid sequence. The insert of clone lambda AG18 appears to contain the full-length coding region of the processed, enzymatically active alpha-Gal A, as well as sequences coding for five amino acids of the amino-terminal propeptide, which is posttranslationally cleaved during enzyme maturation. Images PMID:2997789

  11. Pain Related Channels Are Differentially Expressed in Neuronal and Non-Neuronal Cells of Glabrous Skin of Fabry Knockout Male Mice

    PubMed Central

    Lakomá, Jarmila; Rimondini, Roberto; Donadio, Vincenzo; Liguori, Rocco; Caprini, Marco

    2014-01-01

    Fabry disease (FD) is one of the X-linked lysosomal storage disorders caused by deficient functioning of the alpha-galactosidase A (α-GalA) enzyme. The α-GalA deficiency leads to multi-systemic clinical manifestations caused by the preferential accumulation of globotriaosylceramide in the endothelium and vascular smooth muscles. A hallmark symptom of FD patients is peripheral pain that appears in the early stage of the disease. Pain in FD patients is a peripheral small-fiber idiopathic neuropathy, with intra-epidermal fiber density and integrity being used for diagnosing FD in humans. However, the molecular correlates underlying pain sensation in FD remain elusive. Here, we have employed the α-GalA gene KO mouse as a model of FD in rodents to investigate molecular changes in their peripheral nervous system that may account for their algesic symptoms. The α-GalA null mice display neuropathic pain as evidenced by thermal hyperalgesia and mechanical allodynia, with histological analyses showing alterations in cutaneous innervation. Additionally, KO mice showed a decreased and scattered pattern of neuronal terminations consistent with the reduction in neuronal terminations in skin biopsies of patients with small fiber neuropathies. At the molecular level KO animals showed an increase in the expression of TRPV1 and Nav1.8, and a decrease in the expression of TRPM8. Notably, these alterations are observed in young animals. Taken together, our findings imply that the α-GalA KO mouse is a good model in which to study the peripheral small fiber neuropathy exhibited by FD patients, and provides molecular evidence for a hyperexcitability of small nociceptors in FD. PMID:25337704

  12. Bacterial diseases of the skin.

    PubMed

    Edlich, Richard F; Winters, Kathryne L; Britt, L D; Long, William B

    2005-01-01

    When considering common bacterial diseases of the skin, rather distinct clinical responses to a variety of bacterial infections have been identified. In these cases, it is the specific site of infection and the attendant inflammatory responses that provide the characteristic clinical picture. When the pyoderma extends just below the stratum corneum, it is called impetigo. Nonbullous impetigo is the most common pediatric skin infection. It usually starts in a traumatized area. The typical lesion begins as an erythematous papule, after which it becomes a unilocular vesicle. When the subcorneal vesicle becomes pustular, it ruptures and eventually becomes a yellow, golden crust that is a hallmark of the disease process. Bullous impetigo is a less common form of impetigo, accounting for fewer than 30% of all impetigo cases. It occurs in infants and is characterized by rapid progression of vesicles to the formation of bullae measuring larger than 5 mm in diameter in previously untraumatized skin. Treatment of nonbullous impetigo must include intervention against the pathogen as well as improvements in the hygiene and living conditions of the patient. A fundamental tenet is to debride the crust (scab) from the wound surface using poloxamer 188. If the lesions are not widespread, topical mupirocin is the treatment of choice. Treatment of bullous impetigo is similar, except that the local cleansing and topical antibiotic must be complemented by systemic antibiotics if there is evidence of disseminating infections. Ecthyma is usually a consequence of failure to treat effectively impetigo. The untreated infection extends deep into the tissue in shallow ulcerations that often heal without scar. Treatment for ecthyma usually requires systemic antibiotics against either staphylococcus or streptococcus. Folliculitis is a pyoderma located within a hair follicle, secondary to follicular occlusion by keratin, overhydration, or either bacterial or fungal infection. Folliculitis may

  13. [Heart involvement in Anderson-Fabry disease: Italian recommendations for diagnostic, follow-up and therapeutic management].

    PubMed

    Pieruzzi, Federico; Pieroni, Maurizio; Zachara, Elisabetta; Marziliano, Nicola; Morrone, Amelia; Cecchi, Franco

    2015-11-01

    Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is characterized by a multisystemic involvement: the renal, neurological, heart, cochleovestibular and cutaneous systems are the most damaged. Morbidity and mortality of Anderson-Fabry disease depend on renal insufficiency, heart failure and nervous system involvement. Left ventricular hypertrophy is the most common cardiac manifestation followed by conduction system disease, valve dysfunction, and arrhythmias. Mild to moderate left ventricular hypertrophy may simulate a non-obstructive hypertrophic cardiomyopathy. Management of Anderson-Fabry disease starting from the diagnosis of cardiac involvement, the prevention of complications, the therapeutic aspects, up to appropriate clinical follow-up, requires a multidisciplinary approach. According to recent management guidelines, only few evidence-based data are available to guide the clinical and therapeutic approach to this rare disease. An Italian Board, composed by nephrologists, cardiologists, geneticists, pediatricians and neurologists has been established in order to approve by consensus a diagnostic and therapeutic management protocol. The authors report the results of this cardiologic management consensus. PMID:26571477

  14. Comprehensive and differential long-term characterization of the alpha-galactosidase A deficient mouse model of Fabry disease focusing on the sensory system and pain development

    PubMed Central

    Biko, Lydia; Hose, Dorothea; Hofmann, Lukas; Sommer, Claudia

    2016-01-01

    Background Fabry disease is an X-linked lysosomal storage disorder due to impaired activity of alpha-galactosidase A with intracellular accumulation of globotriaosylceramide. Associated small fiber pathology leads to characteristic pain in Fabry disease. We systematically assessed sensory system, physical activity, metabolic parameters, and morphology of male and female mice with alpha-galactosidase A deficiency (Fabry ko) from 2 to 27 months of age and compared results with those of age- and gender-matched wild-type littermates of C57Bl/6J background. Results From the age of two months, male and female Fabry mice showed mechanical hypersensitivity (p < 0.001 each) compared to wild-type littermates. Young Fabry ko mice of both genders were hypersensitive to heat stimulation (p < 0.01) and developed heat hyposensitivity with aging (p < 0.05), while cold hyposensitivity was present constantly in young (p < 0.01) and old (p < 0.05) Fabry ko mice compared to wild-type littermates. Stride angle increased only in male Fabry ko mice with aging (p < 0.01) in comparison to wild-type littermates. Except for young female mice, male (p < 0.05) and female (p < 0.01) Fabry ko mice had a higher body weight than wild-type littermates. Old male Fabry ko mice were physically less active than their wild-type littermates (p < 0.05), had lower chow intake (p < 0.001), and lost more weight (p < 0.001) in a one-week treadmill experiment than wild-type littermates. Also, Fabry ko mice showed spontaneous pain protective behavior and developed orofacial dysmorphism resembling patients with Fabry disease. Conclusions Mice with alpha-galactosidase A deficiency show age-dependent and distinct deficits of the sensory system. alpha-galactosidase A-deficient mice seem to model human Fabry disease and may be helpful when studying the pathophysiology of Fabry-associated pain. PMID:27145802

  15. Late onset variants in Fabry disease: Results in high risk population screenings in Argentina

    PubMed Central

    Serebrinsky, G.; Calvo, M.; Fernandez, S.; Saito, S.; Ohno, K.; Wallace, E.; Warnock, D.; Sakuraba, H.; Politei, J.

    2015-01-01

    Background Screening for Fabry disease (FD) in high risk populations yields a significant number of individuals with novel, ultra rare genetic variants in the GLA gene, largely without classic manifestations of FD. These variants often have significant residual α-galactosidase A activity. The establishment of the pathogenic character of previously unknown or rare variants is challenging but necessary to guide therapeutic decisions. Objectives To present 2 cases of non-classical presentations of FD with renal involvement as well as to discuss the importance of high risk population screenings for FD. Results Our patients with non-classical variants were diagnosed through FD screenings in dialysis units. However, organ damage was not limited to kidneys, since LVH, vertebrobasilar dolichoectasia and cornea verticillata were also present. Lyso-Gb3 concentrations in plasma were in the pathologic range, compatible with late onset FD. Structural studies and in silico analysis of p.(Cys174Gly) and p.(Arg363His), employing different tools, suggest that enzyme destabilization and possibly aggregation could play a role in organ damage. Conclusions Screening programs for FD in high risk populations are important as FD is a treatable multisystemic disease which is frequently overlooked in patients who present without classical manifestations. PMID:26937405

  16. The genetics of human skin disease.

    PubMed

    DeStefano, Gina M; Christiano, Angela M

    2014-10-01

    The skin is composed of a variety of cell types expressing specific molecules and possessing different properties that facilitate the complex interactions and intercellular communication essential for maintaining the structural integrity of the skin. Importantly, a single mutation in one of these molecules can disrupt the entire organization and function of these essential networks, leading to cell separation, blistering, and other striking phenotypes observed in inherited skin diseases. Over the past several decades, the genetic basis of many monogenic skin diseases has been elucidated using classical genetic techniques. Importantly, the findings from these studies has shed light onto the many classes of molecules and essential genetic as well as molecular interactions that lend the skin its rigid, yet flexible properties. With the advent of the human genome project, next-generation sequencing techniques, as well as several other recently developed methods, tremendous progress has been made in dissecting the genetic architecture of complex, non-Mendelian skin diseases. PMID:25274756

  17. Interconversion of the Specificities of Human Lysosomal Enzymes Associated with Fabry and Schindler Diseases

    SciTech Connect

    Tomasic, Ivan B.; Metcalf, Matthew C.; Guce, Abigail I.; Clark, Nathaniel E.; Garman, Scott C.

    2010-09-03

    The human lysosomal enzymes {alpha}-galactosidase ({alpha}-GAL, EC 3.2.1.22) and {alpha}-N-acetylgalactosaminidase ({alpha}-NAGAL, EC 3.2.1.49) share 46% amino acid sequence identity and have similar folds. The active sites of the two enzymes share 11 of 13 amino acids, differing only where they interact with the 2-position of the substrates. Using a rational protein engineering approach, we interconverted the enzymatic specificity of {alpha}-GAL and {alpha}-NAGAL. The engineered {alpha}-GAL (which we call {alpha}-GALSA) retains the antigenicity of {alpha}-GAL but has acquired the enzymatic specificity of {alpha}-NAGAL. Conversely, the engineered {alpha}-NAGAL (which we call {alpha}-NAGAL{sup EL}) retains the antigenicity of {alpha}-NAGAL but has acquired the enzymatic specificity of the {alpha}-GAL enzyme. Comparison of the crystal structures of the designed enzyme {alpha}-GAL{sup SA} to the wild-type enzymes shows that active sites of {alpha}-GAL{sup SA} and {alpha}-NAGAL superimpose well, indicating success of the rational design. The designed enzymes might be useful as non-immunogenic alternatives in enzyme replacement therapy for treatment of lysosomal storage disorders such as Fabry disease.

  18. Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases.

    PubMed

    Tomasic, Ivan B; Metcalf, Matthew C; Guce, Abigail I; Clark, Nathaniel E; Garman, Scott C

    2010-07-01

    The human lysosomal enzymes alpha-galactosidase (alpha-GAL, EC 3.2.1.22) and alpha-N-acetylgalactosaminidase (alpha-NAGAL, EC 3.2.1.49) share 46% amino acid sequence identity and have similar folds. The active sites of the two enzymes share 11 of 13 amino acids, differing only where they interact with the 2-position of the substrates. Using a rational protein engineering approach, we interconverted the enzymatic specificity of alpha- GAL and alpha-NAGAL. The engineered alpha-GAL (which we call alpha-GAL(SA)) retains the antigenicity of alpha-GAL but has acquired the enzymatic specificity of alpha-NAGAL. Conversely, the engineered alpha-NAGAL (which we call alpha-NAGAL(EL)) retains the antigenicity of alpha-NAGAL but has acquired the enzymatic specificity of the alpha-GAL enzyme. Comparison of the crystal structures of the designed enzyme alpha-GAL(SA) to the wild-type enzymes shows that active sites of alpha-GAL(SA) and alpha-NAGAL superimpose well, indicating success of the rational design. The designed enzymes might be useful as non-immunogenic alternatives in enzyme replacement therapy for treatment of lysosomal storage disorders such as Fabry disease. PMID:20444686

  19. Prevalence of Fabry Disease in Familial Mediterranean Fever Patients from Central Anatolia of Turkey.

    PubMed

    Huzmeli, Can; Candan, Ferhan; Alaygut, Demet; Bagci, Gokhan; Akkaya, Lale; Bagci, Binnur; Sozmen, Eser Yıldırım; Kurtulgan, Hande Kucuk; Kayatas, Mansur

    2016-08-01

    Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal alpha-galactosidase A (AGALA) activity. FD and familial Mediterranean fever (FMF) have typical clinical similarities, and both diseases may progress to end-stage renal diseases. In this study, we aimed to determine the prevalence of FD in patients with FMF from Central Anatolia of Turkey. The study group consisted of 177 FMF patients, followed up by the Adult and Pediatric Nephrology Clinic of Cumhuriyet University Hospital. Screening for AGALA activity was performed by the dry blood spot method. Mutation analysis for GLA gene was carried out for patients having an AGALA enzyme activity value lower than the normal reference value. Low AGALA activity was detected in 23 (13 %) patients. Heterozygous GLA gene mutation c.[937G>T] p.[D313Y] was detected in one female patient (0.56 %). The patient was a 53-year-old female with proteinuria and who had undergone left nephrectomy; her glomerular filtration rate (GFR) by scintigraphy was found to be 70 ml/min. She had M694V mutation and no clinical manifestation of FD. In our study, the prevalence rate of FD was found as 0.56 % in FMF patients. The similarities between the symptoms of FMF and FD might lead to a diagnostic dilemma in physicians at countries where FMF is observed frequently. Although the prevalence of FD is rare, physicians should keep in mind that FD has an ambiguous symptomology pattern of FMF. PMID:27105876

  20. Plants used to treat skin diseases

    PubMed Central

    Tabassum, Nahida; Hamdani, Mariya

    2014-01-01

    Skin diseases are numerous and a frequently occurring health problem affecting all ages from the neonates to the elderly and cause harm in number of ways. Maintaining healthy skin is important for a healthy body. Many people may develop skin diseases that affect the skin, including cancer, herpes and cellulitis. Some wild plants and their parts are frequently used to treat these diseases. The use of plants is as old as the mankind. Natural treatment is cheap and claimed to be safe. It is also suitable raw material for production of new synthetic agents. A review of some plants for the treatment of skin diseases is provided that summarizes the recent technical advancements that have taken place in this area during the past 17 years. PMID:24600196

  1. Fabry Disease Biomarkers: Analysis of Urinary Lyso-Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry.

    PubMed

    Lavoie, Pamela; Boutin, Michel; Abaoui, Mona; Auray-Blais, Christiane

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder caused by the absence or reduction of the enzyme α-galactosidase A activity. Currently, globotriaosylsphingosine (lyso-Gb3 ) and globotriaosylceramide (Gb3 ) are used as biomarkers to diagnose and monitor Fabry patients. However, recent metabolomic studies have shown that several glycosphingolipids are also elevated in biological fluids of affected patients and may be related to disease manifestations. This unit describes a multiplex methodology targeting the analysis of urinary lyso-Gb3 and seven structurally related analogs. A solid-phase extraction process is performed, then lyso-Gb3 and its analogs are analyzed simultaneously with an internal standard by ultra-performance liquid chromatography (UPLC) coupled to a tandem mass spectrometry (MS/MS) system. This methodology can be useful for the diagnosis of Fabry patients, including patients with cardiac variant mutations, but also to monitor the efficacy of therapeutic interventions, considering that lyso-Gb3 analogs are more elevated than lyso-Gb3 itself in urine. © 2016 by John Wiley & Sons, Inc. PMID:27367162

  2. Crohn’s disease and skin

    PubMed Central

    Gravina, AG; Federico, A; Ruocco, E; Lo Schiavo, A; Romano, F; Miranda, A; Sgambato, D; Dallio, M; Ruocco, V; Loguercio, C

    2015-01-01

    Crohn’s disease is a chronic inflammatory bowel disease potentially involving any segment of the gastrointestinal tract. Extra-intestinal manifestations may occur in 6%–40% of patients, and disorders of the skin are among the most common. This manuscript will review skin manifestations associated to Crohn’s disease, with a particular focus on lesions associated to anti-tumour necrosis factor therapy. PMID:27087942

  3. [Skin diseases associated with obesity in children].

    PubMed

    Lau, K; Höger, P H

    2013-04-01

    While the impact of obesity on diabetes, cardiovascular disease and carcinoma development has been studied extensively, only little attention has been paid to its influence on the skin. Obesity alters the skin barrier, can induce skin manifestations, and worsens existing skin diseases like psoriasis. Cutaneous manifestations of obesity may be pseudoacanthosis nigricans, fibroma pendulans (skin tags, fibroepithelial polyps) and striae distensae. Obesity is also associated with hyperandrogenism in women and girls, promoting acne vulgaris, hirsutism, and androgenetic alopecia. In addition, there is a pathogenic association between obesity and psoriasis: the release of pro-inflammatory factors from fat tissue results in the worsening of psoriasis; an association between the severity of psoriasis and the body mass index has been shown. Obesity promotes skin infections like erysipelas and intertrigo. PMID:23529600

  4. Prevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke

    PubMed Central

    Kilarski, Laura L.; Rutten-Jacobs, Loes C. A.; Bevan, Steve; Baker, Rob; Hassan, Ahamad; Hughes, Derralynn A.; Markus, Hugh S.

    2015-01-01

    Background and Purpose Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by mutations in the NOTCH3 gene, is the most common monogenic disorder causing lacunar stroke and cerebral small vessel disease (SVD). Fabry disease (FD) due to mutations in the GLA gene has been suggested as an underdiagnosed cause of stroke, and one feature is SVD. Previous studies reported varying prevalence of CADASIL and FD in stroke, likely due to varying subtypes studied; no studies have looked at a large cohort of younger onset SVD. We determined the prevalence in a well-defined, MRI-verified cohort of apparently sporadic patients with lacunar infarct. Methods Caucasian patients with lacunar infarction, aged ≤70 years (mean age 56.7 (SD8.6)), were recruited from 72 specialist stroke centres throughout the UK as part of the Young Lacunar Stroke DNA Resource. Patients with a previously confirmed monogenic cause of stroke were excluded. All MRI’s and clinical histories were reviewed centrally. Screening was performed for NOTCH3 and GLA mutations. Results Of 994 subjects five had pathogenic NOTCH3 mutations (R169C, R207C, R587C, C1222G and C323S) all resulting in loss or gain of a cysteine in the NOTCH3 protein. All five patients had confluent leukoaraiosis (Fazekas grade ≥2). CADASIL prevalence overall was 0.5% (95% CI 0.2%-1.1%) and among cases with confluent leukoaraiosis 1.5% (95% CI 0.6%-3.3%). No classic pathogenic FD mutations were found; one patient had a missense mutation (R118C), associated with late-onset FD. Conclusion CADASIL cases are rare and only detected in SVD patients with confluent leukoaraiosis. No definite FD cases were detected. PMID:26305465

  5. Skin diseases of old dogs and cats.

    PubMed

    Halliwell, R E

    1990-04-21

    The ageing process tends to predispose dogs and cats to certain skin diseases. Impaired immunosurveillance is believed to render the animals more susceptible to neoplasia which can affect any organ including the skin. Endocrinopathies are also more common in older animals. There are some diseases of internal organs which can affect the skin, and some of these tend to occur with increased frequency in old animals. Finally, seborrhoeic diseases are either more common in older animals, or become increasingly severe with age. PMID:2195753

  6. Inflammatory and glandular skin disease in pregnancy.

    PubMed

    Yang, Catherine S; Teeple, Mary; Muglia, Jennie; Robinson-Bostom, Leslie

    2016-01-01

    A switch from cell-mediated to humoral immunity (helper T 1 [Th1] to helper T 2 [Th2] shift) during gestation plays a key role in placental immune tolerance. As a result, skin diseases that are Th2 mediated often worsen, whereas skin diseases that are Th1 mediated often improve during gestation. Also, due to fluctuations in glandular activity, skin diseases involving sebaceous and eccrine glands may flare, whereas those involving apocrine glands may improve during pregnancy. Despite these trends, inflammatory and glandular skin diseases do not always follow the predicted pattern, and courses are often diverse. We review the gestational course of inflammatory skin diseases, such as atopic dermatitis (atopic eruption of pregnancy), psoriasis, impetigo herpetiformis, urticaria, erythema annulare centrifugum, pityriasis rosea, sarcoidosis, Sweet syndrome, and erythema nodosum, as well as glandular skin diseases, including acne vulgaris, acne rosacea, perioral dermatitis, hidradenitis suppurativa, Fox-Fordyce disease, hyperhidrosis, and miliaria. For each of these diseases, we discuss the pathogenesis, clinical presentation, and management with special consideration for maternal and fetal safety. PMID:27265071

  7. Common Skin Diseases in Children

    PubMed Central

    Taradash, J. B.

    1976-01-01

    Six common pediatric skin problems are discussed through the use of case histories. Problems of differential diagnosis are outlined, and the various steps and pitfalls in therapy itemized. PMID:21308018

  8. Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy

    PubMed Central

    Gaggl, Martina; Lajic, Natalija; Heinze, Georg; Voigtländer, Till; Sunder-Plassmann, Raute; Paschke, Eduard; Fauler, Günter; Sunder-Plassmann, Gere; Mundigler, Gerald

    2016-01-01

    Background: Left ventricular hypertrophy (LVH) is a frequent echocardiographic feature in Fabry disease (FD) and in severe cases may be confused with hypertrophic cardiomyopathy (HCM) of other origin. The prevalence of FD in patients primarily diagnosed with HCM varies considerably in screening and case finding studies, respectively. In a significant proportion of patients, presenting with only mild or moderate LVH and unspecific clinical signs FD may remain undiagnosed. Urinary Gb3 isoforms have been shown to detect FD in both, women and men. We examined whether this non-invasive method would help to identify new FD cases in a non-selected cohort of patients with various degree of LVH. Methods and results: Consecutive patients older than 18 years with a diastolic interventricular septal wall thickness of ≥12mm determined by echocardiography were included. Referral diagnosis was documented and spot urine was collected. Gb3 was measured by mass spectroscopy. Subjects with an elevated Gb3-24:18 ratio were clinically examined for signs of FD, α-galactosidase-A activity in leukocytes was determined and GLA-mutation-analysis was performed. We examined 2596 patients. In 99 subjects urinary Gb3 isoforms excretion were elevated. In these patients no new cases of FD were identified by extended FD assessment. In two of three patients formerly diagnosed with FD Gb3-24:18 ratio was elevated and would have led to further diagnostic evaluation. Conclusion: Measurement of urinary Gb3 isoforms in a non-selected cohort with LVH was unable to identify new cases of FD. False positive results may be prevented by more restricted inclusion criteria and may improve diagnostic accuracy of this method. PMID:27226774

  9. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.

    PubMed

    Pan, Xiaoxia; Ouyang, Yan; Wang, Zhaohui; Ren, Hong; Shen, Pingyan; Wang, Weiming; Xu, Yaowen; Ni, Liyan; Yu, Xialian; Chen, Xiaonong; Zhang, Wen; Yang, Li; Li, Xiao; Xu, Jing; Chen, Nan

    2016-01-01

    Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD), but studies on genotype-phenotype correlation are limited. This study evaluated the features of GLA gene mutations and genotype-phenotype relationship in Chinese FD patients. Gene sequencing results, demographic information, clinical history, and laboratory findings were collected from 73 Chinese FD patients. Totally 47 mutations were identified, including 23 novel mutations which might be pathogenic. For male patients, those with frameshift and nonsense mutations presented the classical FD, whereas those with missense mutations presented both of classical and atypical phenotypes. Interestingly, two male patients with missense mutation p.R356G from two unrelated families, and two with p.R301Q from one family presented different phenotypes. A statistically significant association was found between the levels of α-gal A enzyme activity and ocular changes in males, though no significant association was found between residual enzyme activity level and genotype or clinical phenotypes. For female patients, six out of seven with frameshift mutations and one out of nine with missense mutation presented the classical FD, and α-gal A activity in those patients was found to be significantly lower than that of patients with atypical phenotypes (13.73 vs. 46.32 nmol/ml/h/mg). Our findings suggest that the α-gal A activity might be associated with the clinical severity in female patients with FD. But no obvious associations between activity level of α-gal A and genotype or clinical phenotypes were found for male patients. PMID:27560961

  10. Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

    PubMed Central

    Wang, Zhaohui; Ren, Hong; Shen, Pingyan; Wang, Weiming; Xu, Yaowen; Ni, Liyan; Yu, Xialian; Chen, Xiaonong; Zhang, Wen; Yang, Li; Li, Xiao; Xu, Jing; Chen, Nan

    2016-01-01

    Numerous α-galactosidase A (α-gal A) gene (GLA) mutations have been identified in Fabry disease (FD), but studies on genotype-phenotype correlation are limited. This study evaluated the features of GLA gene mutations and genotype-phenotype relationship in Chinese FD patients. Gene sequencing results, demographic information, clinical history, and laboratory findings were collected from 73 Chinese FD patients. Totally 47 mutations were identified, including 23 novel mutations which might be pathogenic. For male patients, those with frameshift and nonsense mutations presented the classical FD, whereas those with missense mutations presented both of classical and atypical phenotypes. Interestingly, two male patients with missense mutation p.R356G from two unrelated families, and two with p.R301Q from one family presented different phenotypes. A statistically significant association was found between the levels of α-gal A enzyme activity and ocular changes in males, though no significant association was found between residual enzyme activity level and genotype or clinical phenotypes. For female patients, six out of seven with frameshift mutations and one out of nine with missense mutation presented the classical FD, and α-gal A activity in those patients was found to be significantly lower than that of patients with atypical phenotypes (13.73 vs. 46.32 nmol/ml/h/mg). Our findings suggest that the α-gal A activity might be associated with the clinical severity in female patients with FD. But no obvious associations between activity level of α-gal A and genotype or clinical phenotypes were found for male patients. PMID:27560961

  11. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

    PubMed Central

    2011-01-01

    Background Fabry disease is an inherited metabolic disorder characterized by progressive lysosomal accumulation of lipids in a variety of cell types, including neural cells. Small, unmyelinated nerve fibers are particularly affected and small fiber peripheral neuropathy often clinically manifests at young age. Peripheral pain can be chronic and/or occur as provoked attacks of excruciating pain. Manifestations of dysfunction of small autonomic fibers may include, among others, impaired sweating, gastrointestinal dysmotility, and abnormal pain perception. Patients with Fabry disease often remain undiagnosed until severe complications involving the kidney, heart, peripheral nerves and/or brain have arisen. Methods An international expert panel convened with the goal to provide guidance to clinicians who may encounter unrecognized patients with Fabry disease on how to diagnose these patients early using simple diagnostic tests. A further aim was to offer recommendations to control neuropathic pain. Results We describe the neuropathy in Fabry disease, focusing on peripheral small fiber dysfunction - the hallmark of early neurologic involvement in this disorder. The clinical course of peripheral pain is summarized, and the importance of medical history-taking, including family history, is highlighted. A thorough physical examination (e.g., angiokeratoma, corneal opacities) and simple non-invasive sensory perception tests could provide clues to the diagnosis of Fabry disease. Reported early clinical benefits of enzyme replacement therapy include reduction of neuropathic pain, and adequate management of residual pain to a tolerable and functional level can substantially improve the quality of life for patients. Conclusions Our recommendations can assist in diagnosing Fabry small fiber neuropathy early, and offer clinicians guidance in controlling peripheral pain. This is particularly important since management of pain in young patients with Fabry disease appears to be

  12. Histologic features of granulomatous skin diseases.

    PubMed

    Mitteldorf, Christina; Tronnier, Michael

    2016-04-01

    Granulomatous disorders affecting the skin belong to a heterogeneous group of diseases, which were predominantly classified based on pathogenetic features. In infections diseases a granuloma is formed if an agent could not be eliminated by the immune system. Typical agents which cause granulomatous reactions are mycobacteria, fungal infections, especially extra European agent, which could effect the skin by, dissemination (e.g. histoplasmosis) or parasites, like leishmaniasis. PMID:27027748

  13. Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction and Switch-2-Year Follow-Up.

    PubMed

    Lenders, Malte; Canaan-Kühl, Sima; Krämer, Johannes; Duning, Thomas; Reiermann, Stefanie; Sommer, Claudia; Stypmann, Jörg; Blaschke, Daniela; Üçeyler, Nurcan; Hense, Hans-Werner; Brand, Stefan-Martin; Wanner, Christoph; Weidemann, Frank; Brand, Eva

    2016-03-01

    Because of the shortage of agalsidase-β supply between 2009 and 2012, patients with Fabry disease either were treated with reduced doses or were switched to agalsidase-α. In this observational study, we assessed end organ damage and clinical symptoms with special focus on renal outcome after 2 years of dose-reduction and/or switch to agalsidase-α. A total of 89 adult patients with Fabry disease who had received agalsidase-β (1.0 mg/kg body wt) for >1 year were nonrandomly assigned to continue this treatment regimen (regular-dose group, n=24), to receive a reduced dose of 0.3-0.5 mg/kg and a subsequent switch to 0.2 mg/kg agalsidase-α (dose-reduction-switch group, n=28), or to directly switch to 0.2 mg/kg agalsidase-α (switch group, n=37) and were followed-up for 2 years. We assessed clinical events (death, myocardial infarction, severe arrhythmia, stroke, progression to ESRD), changes in cardiac and renal function, Fabry-related symptoms (pain, hypohidrosis, diarrhea), and disease severity scores. Determination of renal function by creatinine and cystatin C-based eGFR revealed decreasing eGFRs in the dose-reduction-switch group and the switch group. The Mainz Severity Score Index increased significantly in these two groups (P=0.02 and P<0.001, respectively), and higher frequencies of gastrointestinal pain occurred during follow-up. In conclusion, after 2 years of observation, all groups showed a stable clinical disease course with respect to serious clinical events. However, patients under agalsidase-β dose-reduction and switch or a direct switch to agalsidase-α showed a decline of renal function independent of the eGFR formula used. PMID:26185201

  14. Psychosocial effect of common skin diseases.

    PubMed Central

    Barankin, Benjamin; DeKoven, Joel

    2002-01-01

    OBJECTIVE: To increase awareness of the psychosocial effect of acne, atopic dermatitis, and psoriasis. QUALITY OF EVIDENCE: A literature review was based on a MEDLINE search (1966 to 2000). Selected articles from the dermatologic and psychiatric literature, as well as other relevant medical journals, were reviewed and used as the basis for discussion of how skin disease affects patients' lives and of appropriate management. Studies in the medical literature provide mainly level III evidence predominantly based on descriptive studies and expert opinion. MAIN MESSAGE: Dermatologic problems can result in psychosocial effects that seriously affect patients' lives. More than a cosmetic nuisance, skin disease can produce anxiety, depression, and other psychological problems that affect patients' lives in ways comparable to arthritis or other disabling illnesses. An appreciation for the effects of sex, age, and location of lesions is important, as well as the bidirectional relationship between skin disease and psychological distress. This review focuses on the effects of three common skin diseases seen by family physicians: acne, atopic dermatitis, and psoriasis. CONCLUSION: How skin disease affects psychosocial well-being is underappreciated. Increased understanding of the psychiatric comorbidity associated with skin disease and a biopsychosocial approach to management will ultimately improve patients' lives. PMID:12046366

  15. Skin diseases in internationally adopted children.

    PubMed

    Rigal, Émilie; Nourrisson, Céline; Sciauvaud, Julie; Pascal, Julie; Texier, Charlotte; Corbin, Violaine; Poirier, Véronique; Beytout, Jean; Labbe, André; Lesens, Olivier

    2016-08-01

    Internationally adopted children often present diseases contracted in the country of origin. Skin diseases are common in new arrivals, and diagnosis may prove challenging for GPs or even dermatologists if they are inexperienced in the extensive geographic and ethnic diversity of international adoptees. To analyse the frequency and characteristics of skin diseases in international adoptees. In total, 142 adoptees were evaluated for a cross-sectional cohort study. The most frequent diseases observed at arrival were dermatological conditions. Of the adoptees, 70% presented at least one skin disease, of which 57.5% were infectious; Tinea capitis being the most frequent (n = 42). The recovery rate of Tinea capitis was 89% (n = 32/36). Ten cases of scabies were diagnosed. Other diseases included viral skin infection (n = 22), with 16 cases of Molluscum contagiosum and bacterial infection. Skin diseases are very common in internationally adopted children. There is a need for close collaboration between dermatologists and paediatricians to diagnose such infections, as well as clear guidelines to treat them. PMID:27436771

  16. Helicobacter pylori and skin autoimmune diseases.

    PubMed

    Magen, Eli; Delgado, Jorge-Shmuel

    2014-02-14

    Autoimmune skin diseases are characterized by dysregulation of the immune system resulting in a loss of tolerance to skin self-antigen(s). The prolonged interaction between the bacterium and host immune mechanisms makes Helicobacter pylori (H. pylori) a plausible infectious agent for triggering autoimmunity. Epidemiological and experimental data now point to a strong relation of H. pylori infection on the development of many extragastric diseases, including several allergic and autoimmune diseases. H. pylori antigens activate cross-reactive T cells and induce autoantibodies production. Microbial heat shock proteins (HSP) play an important role of in the pathogenesis of autoimmune diseases because of the high level of sequence homology with human HSP. Eradication of H. pylori infection has been shown to be effective in some patients with chronic autoimmune urticaria, psoriasis, alopecia areata and Schoenlein-Henoch purpura. There is conflicting and controversial data regarding the association of H. pylori infection with Behçet's disease, scleroderma and autoimmune bullous diseases. No data are available evaluating the association of H. pylori infection with other skin autoimmune diseases, such as vitiligo, cutaneous lupus erythematosus and dermatomyositis. The epidemiological and experimental evidence for a possible role of H. pylori infection in skin autoimmune diseases are the subject of this review. PMID:24587626

  17. Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease

    PubMed Central

    Giese, Anne Kathrin; Eichler, Sabrina; Sieweke, Nicole; Speth, Maria; Bauer, Timm; Hamm, Christian

    2016-01-01

    Objectives Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evaluate the diagnostic value of cardiac troponin I (cTnI) in discriminating FD patients with cardiac involvement in a large FD patient cohort. Methods cTnI levels were measured with a contemporary sensitive assay in plasma samples taken routinely from FD patients. The assay was calibrated to measure cTnI levels ≥0.01 ng/ml. Elevated cTnI values (cut-off ≥0.04 ng/ml) were correlated with clinical data. Results cTnI was assessed in 62 FD patients (median age: 47 years, males: 36%). Elevated cTnI levels were detected in 23 (37%) patients. Patients with a cTnI elevation were older (median 55 years versus 36 years, p<0.001). Elevated cTnI levels were associated with the presence of a LVH (16/23 versus 1/39; OR 65.81, CI: 6.747–641.859; p<0.001). In almost all patients with a left ventricular hypertrophy (LVH) elevated cTnI levels were detected (16/17, 94%). Absolute cTnI levels in patients with LVH were higher than in those without (median 0.23 ng/ml versus 0.02 ng/ml; p<0.001). A cTnI level <0.04ng/ml had a high negative predictive value regarding the presence of a LVH (38/39, 97%). In a control group of non-FD patients (n = 17) with LVH (due to hypertension) none showed cTnI levels ≥0.01 ng/ml. Conclusions Elevated cTnI levels are common in FD patients, reflecting cardiac involvement. FD patients might benefit from a continuous cTnI monitoring. PMID:27322070

  18. Enzymatic diagnosis of Fabry disease using a fluorometric assay on dried blood spots: An alternative methodology.

    PubMed

    Caudron, Eric; Prognon, Patrice; Germain, Dominique P

    2015-12-01

    Fabry disease (FD, OMIM#301500) is an X-linked lysosomal storage disorder caused by the functional deficiency of α-galactosidase A, a lysosomal enzyme. A method to screen for FD in large populations has been developed using a fluorometric assay of α-galactosidase A activity in dried blood spots (DBS) on filter paper. However, results can be influenced by quenching of fluorescence by haemoglobin which, together with small sample size, may result in a low light emission signal. An alternative, simple and sensitive fluorometric assay was developed for the determination of α-galactosidase A activity in DBS. The assay uses 4-methylumbelliferyl-α-d-galactose as an artificial substrate. To minimize the risk of false-positives, zinc sulfate was used for protein precipitation to stop the enzymatic reaction and eliminate interfering species (hemoglobin). Samples from 209 individuals (60 hemizygotes, 68 heterozygotes, and 81 controls) were tested to establish reference values for the assay. The mean α-galactosidase A activity of the 81 controls was 9.1 ± 3.3 μmol h(-1) L(-1) (mean ± SD). All 60 hemizygotes affected with FD had AGAL activities below 1.7 μmol h(-1) L(-1) (0.2 ± 0.3 μmol h(-1) L(-1)). For the 68 heterozygous females, AGAL activity ranged from 0 to 12.6 μmol h(-1) L(-1) (3.5 ± 2.7 μmol h(-1) L(-1)). Two-thirds of the female patients could be identified using the enzymatic assay and a cut-off level of 40% of the median control value (<3.4 μmol h(-1) L(-1)). Our fluorometric assay using zinc sulfate protein precipitation was shown to have similar sensitivity and robustness while reducing the risk of false positive results due to quenching of 4-MU fluorescence by haemoglobin. PMID:26520229

  19. Atmospheric pressure photoionization coupled to porous graphitic carbon liquid chromatography for the analysis of globotriaosylceramides. Application to Fabry disease.

    PubMed

    Delobel, Arnaud; Roy, Sandrine; Touboul, David; Gaudin, Karen; Germain, Dominique P; Baillet, Arlette; Brion, Françoise; Prognon, Patrice; Chaminade, Pierre; Laprévote, Olivier

    2006-01-01

    Globotriaosylceramides (Gb(3)) are biological compounds implicated in Fabry disease, a lysosomal storage disease due to the deficient activity of alpha-D-galactosidase A, which results in an accumulation of Gb(3) in many organs. The naturally occurring samples are composed of mixtures of several molecular species differing by the structure of the alkyl chains and the nature of the sphingoid base. Atmospheric pressure photoionization mass spectrometry (APPI-MS) proved to be an efficient method for the analysis of globotriaosylceramide molecular species, both in direct injection and by coupling with liquid chromatography (LC). In the positive ion mode, in-source fragmentations yield very precious information that can be used to determine the structure of the alkyl chains. In the negative ion mode, the chloroform solvent participates to the analyte ionization by forming an adduct with chloride ions generated in situ. Combination of LC on a Porous Graphitic Carbon stationary phase and APPI-MS allowed the detection of a great number of species from biological samples isolated from Fabry patients. This method could be an interesting analytical tool for the biochemical investigation of (sphingo) lipid metabolism. PMID:16287034

  20. Tandem Mass Spectrometry Quantitation of Lyso-Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients.

    PubMed

    Boutin, Michel; Lavoie, Pamela; Abaoui, Mona; Auray-Blais, Christiane

    2016-01-01

    Fabry disease is an X-linked lysosomal storage disorder, caused by a deficit in α-galactosidase A enzyme activity, leading to the storage of sphingolipids such as globotriaosylsphingosine (lyso-Gb3 ), globotriaosylceramide (Gb3 ), and galabiosylceramide (Ga2 ) in organs, tissues and biological fluids. A recent metabolomic study performed in plasma revealed lyso-Gb3 analogs as novel Fabry disease biomarkers. These molecules correspond to lyso-Gb3 with different chemical modifications on the sphingosine chain (-C2 H4 , -H2 , +O, +H2 O, +H2 O2, and +H2 O3 ). An ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS) method was developed and validated for the multiplex analysis of lyso-Gb3 and its 6 analogs in plasma. The samples are prepared by solid phase extraction using mixed-mode strong cation exchange (MCX) cartridges. An in-house synthesized N-glycinated lyso-Gb3 derivative was used for the internal standard. The limits of detection (LODs) measured for lyso-Gb3 and its analogs ranged from 0.06 to 0.29 nM. © 2016 by John Wiley & Sons, Inc. PMID:27367163

  1. Skin equivalents: skin from reconstructions as models to study skin development and diseases.

    PubMed

    Ali, N; Hosseini, M; Vainio, S; Taïeb, A; Cario-André, M; Rezvani, H R

    2015-08-01

    While skin is readily available for sampling and direct studies of its constituents, an important intermediate step is to design in vitro and/or in vivo models to address scientific or medical questions in dermatology and skin biology. Pioneered more than 30 years ago, human skin equivalents (HSEs) have been refined with better cell culture techniques and media, together with sophisticated cell biology tools including genetic engineering and cell reprogramming. HSEs mimic key elements of human skin biology and have been instrumental in demonstrating the importance of cell-cell interactions in skin homeostasis and the role of a complex cellular microenvironment to coordinate epidermal proliferation, differentiation and pigmentation. HSEs have a wide field of applications from cell biology to dermocosmetics, modelling diseases, drug development, skin ageing, pathophysiology and regenerative medicine. In this article we critically review the major current approaches used to reconstruct organotypic skin models and their application with a particular emphasis on skin biology and pathophysiology of skin disorders. PMID:25939812

  2. Antimicrobial peptides in human skin disease

    PubMed Central

    Kenshi, Yamasaki; Richard, L. Gallo

    2009-01-01

    The skin continuously encounters microbial pathogens. To defend against this, cells of the epidermis and dermis have evolved several innate strategies to prevent infection. Antimicrobial peptides are one of the primary mechanisms used by the skin in the early stages of immune defense. In general, antimicrobial peptides have broad antibacterial activity against gram-positive and negative bacteria and also show antifungal and antiviral activity. The antimicrobial activity of most peptides occurs as a result of unique structural characteristics that enable them to disrupt the microbial membrane while leaving human cell membranes intact. However, antimicrobial peptides also act on host cells to stimulate cytokine production, cell migration, proliferation, maturation, and extracellular matrix synthesis. The production by human skin of antimicrobial peptides such as defensins and cathelicidins occurs constitutively but also greatly increases after infection, inflammation or injury. Some skin diseases show altered expression of antimicrobial peptides, partially explaining the pathophysiology of these diseases. Thus, current research suggests that understanding how antimicrobial peptides modify susceptibility to microbes, influence skin inflammation, and modify wound healing, provides greater insight into the pathophysiology of skin disorders and offers new therapeutic opportunities. PMID:18086583

  3. Influence of Skin Diseases on Fingerprint Recognition

    PubMed Central

    Drahansky, Martin; Dolezel, Michal; Urbanek, Jaroslav; Brezinova, Eva; Kim, Tai-hoon

    2012-01-01

    There are many people who suffer from some of the skin diseases. These diseases have a strong influence on the process of fingerprint recognition. People with fingerprint diseases are unable to use fingerprint scanners, which is discriminating for them, since they are not allowed to use their fingerprints for the authentication purposes. First in this paper the various diseases, which might influence functionality of the fingerprint-based systems, are introduced, mainly from the medical point of view. This overview is followed by some examples of diseased finger fingerprints, acquired both from dactyloscopic card and electronic sensors. At the end of this paper the proposed fingerprint image enhancement algorithm is described. PMID:22654483

  4. Influence of skin diseases on fingerprint recognition.

    PubMed

    Drahansky, Martin; Dolezel, Michal; Urbanek, Jaroslav; Brezinova, Eva; Kim, Tai-hoon

    2012-01-01

    There are many people who suffer from some of the skin diseases. These diseases have a strong influence on the process of fingerprint recognition. People with fingerprint diseases are unable to use fingerprint scanners, which is discriminating for them, since they are not allowed to use their fingerprints for the authentication purposes. First in this paper the various diseases, which might influence functionality of the fingerprint-based systems, are introduced, mainly from the medical point of view. This overview is followed by some examples of diseased finger fingerprints, acquired both from dactyloscopic card and electronic sensors. At the end of this paper the proposed fingerprint image enhancement algorithm is described. PMID:22654483

  5. Human Polyomaviruses in Skin Diseases

    PubMed Central

    Moens, Ugo; Ludvigsen, Maria; Van Ghelue, Marijke

    2011-01-01

    Polyomaviruses are a family of small, nonenveloped viruses with a circular double-stranded DNA genome of ∼5,000 base pairs protected by an icosahedral protein structure. So far, members of this family have been identified in birds and mammals. Until 2006, BK virus (BKV), JC virus (JCV), and simian virus 40 (SV40) were the only polyomaviruses known to circulate in the human population. Their occurrence in individuals was mainly confirmed by PCR and the presence of virus-specific antibodies. Using the same methods, lymphotropic polyomavirus, originally isolated in monkeys, was recently shown to be present in healthy individuals although with much lower incidence than BKV, JCV, and SV40. The use of advanced high-throughput sequencing and improved rolling circle amplification techniques have identified the novel human polyomaviruses KI, WU, Merkel cell polyomavirus, HPyV6, HPyV7, trichodysplasia spinulosa-associated polyomavirus, and HPyV9. The skin tropism of human polyomaviruses and their dermatopathologic potentials are the focus of this paper. PMID:21941687

  6. Effects of climate changes on skin diseases.

    PubMed

    Balato, Nicola; Megna, Matteo; Ayala, Fabio; Balato, Anna; Napolitano, Maddalena; Patruno, Cataldo

    2014-02-01

    Global climate is changing at an extraordinary rate. Climate change (CC) can be caused by several factors including variations in solar radiation, oceanic processes, and also human activities. The degree of this change and its impact on ecological, social, and economical systems have become important matters of debate worldwide, representing CC as one of the greatest challenges of the modern age. Moreover, studies based on observations and predictive models show how CC could affect human health. On the other hand, only a few studies focus on how this change may affect human skin. However, the skin is the most exposed organ to environment; therefore, it is not surprising that cutaneous diseases are inclined to have a high sensitivity to climate. The current review focuses on the effects of CC on skin diseases showing the numerous factors that are contributing to modify the incidence, clinical pattern and natural course of some dermatoses. PMID:24404995

  7. Skin Diseases: Questions for Your Health Care Provider

    MedlinePlus

    Skip Navigation Bar Home Current Issue Past Issues Skin Diseases Questions for Your Health Care Provider Past ... dermatitis worse? What are the most common irritants? Skin cancer What type of skin cancer do I ...

  8. Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain

    PubMed Central

    Kahn, Pauline

    1973-01-01

    A clinical review and histopathological study of three cases of Anderson-Fabry disease is presented and pathological changes in the central and peripheral nervous systems are reported, in some sites for the first time. These are telangiectatic changes in vessels of the sympathetic ganglia in the vertebral trunk; storage of glycolipid in pigmented cells of the substantia nigra and in anterior horn cells; and degeneration of nerve fibres in the dorsal root entry zone and substantia gelatinosa of the spinal cord. The histopathological findings suggest that in this disease pain is due to involvement of dorsal root ganglion cells with associated axonal degeneration of the small fibres in pathways subserving pain. Images PMID:4204059

  9. Viral skin diseases of the rabbit.

    PubMed

    Meredith, Anna L

    2013-09-01

    This article describes the viral skin diseases affecting the domestic rabbit, the most important being myxomatosis. Transmission and pathogenesis, clinical signs, diagnosis, treatment, and control are described and the article will be of interest to veterinary practitioners who treat rabbits. Shope fibroma virus, Shope papilloma virus, and rabbitpox are also discussed. PMID:24018033

  10. Skin Manifestations of Inflammatory Bowel Disease

    PubMed Central

    Huang, Brian L.; Chandra, Stephanie; Shih, David Quan

    2012-01-01

    Inflammatory bowel disease (IBD) is a disease that affects the intestinal tract via an inflammatory process. Patients who suffer from IBD often have diseases that affect multiple other organ systems as well. These are called extraintestinal manifestations and can be just as, if not more debilitating than the intestinal inflammation itself. The skin is one of the most commonly affected organ systems in patients who suffer from IBD. The scientific literature suggests that a disturbance of the equilibrium between host defense and tolerance, and the subsequent over-activity of certain immune pathways are responsible for the cutaneous disorders seen so frequently in IBD patients. The purpose of this review article is to give an overview of the types of skin diseases that are typically seen with IBD and their respective pathogenesis, proposed mechanisms, and treatments. These cutaneous disorders can manifest as metastatic lesions, reactive processes to the intestinal inflammation, complications of IBD itself, or side effects from IBD treatments; these can be associated with IBD via genetic linkage, common autoimmune processes, or other mechanisms that will be discussed in this article. Ultimately, it is important for healthcare providers to understand that skin manifestations should always be checked and evaluated for in patients with IBD. Furthermore, skin disorders can predate gastrointestinal symptoms and thus may serve as important clinical indicators leading physicians to earlier diagnosis of IBD. PMID:22347192

  11. Managing Amphibian Disease with Skin Microbiota.

    PubMed

    Woodhams, Douglas C; Bletz, Molly; Kueneman, Jordan; McKenzie, Valerie

    2016-03-01

    The contribution of emerging amphibian diseases to the sixth mass extinction is driving innovative wildlife management strategies, including the use of probiotics. Bioaugmentation of the skin mucosome, a dynamic environment including host and microbial components, may not provide a generalized solution. Multi-omics technologies and ecological context underlie effective implementation. PMID:26916805

  12. DANDRUFF: THE MOST COMMERCIALLY EXPLOITED SKIN DISEASE

    PubMed Central

    Ranganathan, S; Mukhopadhyay, T

    2010-01-01

    The article discuss in detail about the prevalence, pathophysiology, clinical manifestations of dandruff including the etio-pathology. The article also discusses in detail about various treatment methods available for dandruff. The status of dandruff being amphibious – a disease/disorder, and relatively less medical intervention is sought after for the treatment, dandruff is the most commercially exploited skin and scalp disorder/disease by personal care industries. PMID:20606879

  13. The Fabry disease-associated lipid Lyso-Gb3 enhances voltage-gated calcium currents in sensory neurons and causes pain.

    PubMed

    Choi, L; Vernon, J; Kopach, O; Minett, M S; Mills, K; Clayton, P T; Meert, T; Wood, J N

    2015-05-01

    Fabry disease is an X-linked lysosomal storage disorder characterised by accumulation of glycosphingolipids, and accompanied by clinical manifestations, such as cardiac disorders, renal failure, pain and peripheral neuropathy. Globotriaosylsphingosine (lyso-Gb3), a deacylated form of globotriaosylceramide (Gb3), has emerged as a marker of Fabry disease. We investigated the link between Gb3, lyso-Gb3 and pain. Plantar administration of lyso-Gb3 or Gb3 caused mechanical allodynia in healthy mice. In vitro application of 100nM lyso-Gb3 caused uptake of extracellular calcium in 10% of sensory neurons expressing nociceptor markers, rising to 40% of neurons at 1μM, a concentration that may occur in Fabry disease patients. Peak current densities of voltage-dependent Ca(2+) channels were substantially enhanced by application of 1μM lyso-Gb3. These studies suggest a direct role for lyso-Gb3 in the sensitisation of peripheral nociceptive neurons that may provide an opportunity for therapeutic intervention in the treatment of Fabry disease-associated pain. PMID:25697597

  14. Air pollution and skin diseases: Adverse effects of airborne particulate matter on various skin diseases.

    PubMed

    Kim, Kyung Eun; Cho, Daeho; Park, Hyun Jeong

    2016-05-01

    Environmental air pollution encompasses various particulate matters (PMs). The increased ambient PM from industrialization and urbanization is highly associated with morbidity and mortality worldwide, presenting one of the most severe environmental pollution problems. This article focuses on the correlation between PM and skin diseases, along with related immunological mechanisms. Recent epidemiological studies on the cutaneous impacts of PM showed that PM affects the development and exacerbation of skin diseases. PM induces oxidative stress via production of reactive oxygen species and secretion of pro-inflammatory cytokines such as TNF-α, IL-1α, and IL-8. In addition, the increased production of ROS such as superoxide and hydroxyl radical by PM exposure increases MMPs including MMP-1, MMP-2, and MMP-9, resulting in the degradation of collagen. These processes lead to the increased inflammatory skin diseases and skin aging. In addition, environmental cigarette smoke, which is well known as an oxidizing agent, is closely related with androgenetic alopecia (AGA). Also, ultrafine particles (UFPs) including black carbon and polycyclic aromatic hydrocarbons (PAHs) enhance the incidence of skin cancer. Overall, increased PM levels are highly associated with the development of various skin diseases via the regulation of oxidative stress and inflammatory cytokines. Therefore, anti-oxidant and anti-inflammatory drugs may be useful for treating PM-induced skin diseases. PMID:27018067

  15. 9 CFR 311.6 - Diamond-skin disease.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 9 Animals and Animal Products 2 2013-01-01 2013-01-01 false Diamond-skin disease. 311.6 Section... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.6 Diamond-skin disease. Carcasses of hogs affected with diamond-skin disease when localized and not associated with systemic...

  16. 9 CFR 311.6 - Diamond-skin disease.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 9 Animals and Animal Products 2 2011-01-01 2011-01-01 false Diamond-skin disease. 311.6 Section... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.6 Diamond-skin disease. Carcasses of hogs affected with diamond-skin disease when localized and not associated with systemic...

  17. 9 CFR 311.6 - Diamond-skin disease.

    Code of Federal Regulations, 2014 CFR

    2014-01-01

    ... 9 Animals and Animal Products 2 2014-01-01 2014-01-01 false Diamond-skin disease. 311.6 Section... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.6 Diamond-skin disease. Carcasses of hogs affected with diamond-skin disease when localized and not associated with systemic...

  18. 9 CFR 311.6 - Diamond-skin disease.

    Code of Federal Regulations, 2012 CFR

    2012-01-01

    ... 9 Animals and Animal Products 2 2012-01-01 2012-01-01 false Diamond-skin disease. 311.6 Section... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.6 Diamond-skin disease. Carcasses of hogs affected with diamond-skin disease when localized and not associated with systemic...

  19. 9 CFR 311.6 - Diamond-skin disease.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 9 Animals and Animal Products 2 2010-01-01 2010-01-01 false Diamond-skin disease. 311.6 Section... CERTIFICATION DISPOSAL OF DISEASED OR OTHERWISE ADULTERATED CARCASSES AND PARTS § 311.6 Diamond-skin disease. Carcasses of hogs affected with diamond-skin disease when localized and not associated with systemic...

  20. Molecular advances in genetic skin diseases.

    PubMed

    Siegel, Dawn H; Howard, Renee

    2002-08-01

    The genes for several genetic skin diseases have been identified in recent years. This development improves diagnostic capabilities and genetic counseling, and investigators can now turn to the molecular mechanisms involved in the pathogenesis of these diseases. The identification of the causative genes has led to the generation of mouse models for some genetic skin diseases. A study of the keratin 10 deficient mouse, a model for epidermolytic hyperkeratosis, and a mouse model for Bloom syndrome are reviewed in this article. Several studies also evaluate the relation between genotype and phenotype. In this article, the clinical findings and molecular advances in tuberous sclerosis complex, neurofibromatosis type 1, Bloom syndrome, epidermolytic hyperkeratosis, X-linked ichthyosis, Netherton syndrome, and Hermansky-Pudlak syndrome are reviewed. PMID:12130905

  1. Skin biopsy: Biopsy issues in specific diseases.

    PubMed

    Elston, Dirk M; Stratman, Erik J; Miller, Stanley J

    2016-01-01

    Misdiagnosis may result from biopsy site selection, technique, or choice of transport media. Important potential sources of error include false-negative direct immunofluorescence results based on poor site selection, uninformative biopsy specimens based on both site selection and technique, and spurious interpretations of pigmented lesions and nonmelanoma skin cancer based on biopsy technique. Part I of this 2-part continuing medical education article addresses common pitfalls involving site selection and biopsy technique in the diagnosis of bullous diseases, vasculitis, panniculitis, connective tissue diseases, drug eruptions, graft-versus-host disease, staphylococcal scalded skin syndrome, hair disorders, and neoplastic disorders. Understanding these potential pitfalls can result in improved diagnostic yield and patient outcomes. PMID:26702794

  2. Eosinophilic Skin Diseases: A Comprehensive Review.

    PubMed

    Long, Hai; Zhang, Guiying; Wang, Ling; Lu, Qianjin

    2016-04-01

    Eosinophilic skin diseases, commonly termed as eosinophilic dermatoses, refer to a broad spectrum of skin diseases characterized by eosinophil infiltration and/or degranulation in skin lesions, with or without blood eosinophilia. The majority of eosinophilic dermatoses lie in the allergy-related group, including allergic drug eruption, urticaria, allergic contact dermatitis, atopic dermatitis, and eczema. Parasitic infestations, arthropod bites, and autoimmune blistering skin diseases such as bullous pemphigoid, are also common. Besides these, there are several rare types of eosinophilic dermatoses with unknown origin, in which eosinophil infiltration is a central component and affects specific tissue layers or adnexal structures of the skin, such as the dermis, subcutaneous fat, fascia, follicles, and cutaneous vessels. Some typical examples are eosinophilic cellulitis, granuloma faciale, eosinophilic pustular folliculitis, recurrent cutaneous eosinophilic vasculitis, and eosinophilic fasciitis. Although tissue eosinophilia is a common feature shared by these disorders, their clinical and pathological properties differ dramatically. Among these rare entities, eosinophilic pustular folliculitis may be associated with human immunodeficiency virus (HIV) infection or malignancies, and some other diseases, like eosinophilic fasciitis and eosinophilic cellulitis, may be associated with an underlying hematological disorder, while others are considered idiopathic. However, for most of these rare eosinophilic dermatoses, the causes and the pathogenic mechanisms remain largely unknown, and systemic, high-quality clinical investigations are needed for advances in better strategies for clinical diagnosis and treatment. Here, we present a comprehensive review on the etiology, pathogenesis, clinical features, and management of these rare entities, with an emphasis on recent advances and current consensus. PMID:25876839

  3. Immunology and skin in health and disease.

    PubMed

    Richmond, Jillian M; Harris, John E

    2014-12-01

    The skin is a complex organ that, in addition to providing a strong barrier against external insults, serves as an arena for a wide variety of inflammatory processes, including immunity against infections, tumor immunity, autoimmunity, and allergy. A variety of cells collaborate to mount functional immune responses, which are initiated by resident populations and evolve through the recruitment of additional cell populations to the skin. Inflammatory responses are quite diverse, resulting in a wide range of signs and symptoms that depend on the initiating signals, characteristics of the infiltrating cell populations, and cytokines that are produced (cytokines are secreted protein that allows for cell-cell communication; usually refers to communication between immune-immune cells or stromal-immune cells). In this work, we will review the skin architecture and resident and recruited cell populations and discuss how these populations contribute to inflammation using human diseases and treatments when possible to illustrate their importance within a clinical context. PMID:25452424

  4. Ocular manifestations of infectious skin diseases.

    PubMed

    Sadowska-Przytocka, Anna; Czarnecka-Operacz, Magdalena; Jenerowicz, Dorota; Grzybowski, Andrzej

    2016-01-01

    Ocular complications of infectious skin diseases are a common occurrence. Managing the inflamed or infected eye in the emergency setting presents a diagnostic and therapeutic challenge to the emergency physician. Infectious agents may affect any part of the eye. Ocular findings may be the first sign of many infectious diseases, such as, for example, gonorrhea or chlamydia infection. Understanding the various forms of ocular involvement in these conditions is important, because untreated ophthalmic involvement can lead to severe vision loss. This review focuses on the significant ocular manifestations of the most common infectious diseases, including bacterial, viral, fungal, and parasitic infections, that both ophthalmologists and dermatologists may encounter. PMID:26903179

  5. Marek's disease virus and skin interactions.

    PubMed

    Couteaudier, Mathilde; Denesvre, Caroline

    2014-01-01

    Marek's disease virus (MDV) is a highly contagious herpesvirus which induces T-cell lymphoma in the chicken. This virus is still spreading in flocks despite forty years of vaccination, with important economical losses worldwide. The feather follicles, which anchor feathers into the skin and allow their morphogenesis, are considered as the unique source of MDV excretion, causing environmental contamination and disease transmission. Epithelial cells from the feather follicles are the only known cells in which high levels of infectious mature virions have been observed by transmission electron microscopy and from which cell-free infectious virions have been purified. Finally, feathers harvested on animals and dust are today considered excellent materials to monitor vaccination, spread of pathogenic viruses, and environmental contamination. This article reviews the current knowledge on MDV-skin interactions and discusses new approaches that could solve important issues in the future. PMID:24694064

  6. Skin manifestations of chronic kidney disease.

    PubMed

    Robles-Mendez, J C; Vazquez-Martinez, O; Ocampo-Candiani, J

    2015-10-01

    Skin manifestations associated with chronic kidney disease are very common. Most of these conditions present in the end stages and may affect the patient's quality of life. Knowledge of these entities can contribute to establishing an accurate diagnosis and prognosis. Severe renal pruritus is associated with increased mortality and a poor prognosis. Nail exploration can provide clues about albumin and urea levels. Nephrogenic systemic fibrosis is a preventable disease associated with gadolinium contrast. Comorbidities, such as diabetes mellitus and secondary hyperparathyroidism, can lead to acquired perforating dermatosis and calciphylaxis, respectively. Effective and innovative treatments are available for all of these conditions. PMID:26093993

  7. Infections and skin diseases mimicking diaper dermatitis.

    PubMed

    Van Gysel, Dirk

    2016-07-01

    Diaper dermatitis is a common condition that often prompts parents to seek medical attention. Irritant diaper dermatitis is by far the most common cause, but numerous potentially serious diseases can present with changes of the skin in the diaper area. The differential diagnosis can include psoriasis, metabolic disorders, rare immune diseases and infection. Clinical examination can be helpful in distinguishing the underlying cause. General screening laboratory tests, as well as select testing when a specific condition is suspected, can be used to challenge or confirm the putative diagnosis. PMID:27311780

  8. [The nephropathy in the Anderson-Fabry disease: new recommendations for the diagnosis, the follow-up and the therapy].

    PubMed

    Mignani, Renzo; Gallieni, Maurizio; Feriozzi, Sandro; Pisani, Antonio; Marziliano, Nicola; Morrone, Amelia

    2015-01-01

    Anderson-Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations of the GLA gene that encodes alpha-galactosidase A. It is a characterized by the involvement of several systems: renal, neurological, hearth, cochleovestibular and cutaneous systems are the most involved. Despite recent studies have provided new insights in the this disease, there are still lacks and discrepancies among all insiders regarding the diagnosis, clinical and therapeutic management. Enzyme replacement have been demonstrated to improve the course of the disease, especially when the diagnosis is early. There are still some debates on diagnosis and management of patients, in particular in the heterozygote female and the start of enzyme replacement. Thus, an Italian board, composed by nephrologists, cardiologists, genetics, pediatricians and neurologists has been established in order to approve through a consensus a diagnostic and therapeutic Italian management. Authors report the renal clinical and therapeutic management, a useful tool either for expert physicians or for those with a few experience in the diagnosis and management of this disease. PMID:26252265

  9. IgG4-related skin disease.

    PubMed

    Tokura, Y; Yagi, H; Yanaguchi, H; Majima, Y; Kasuya, A; Ito, T; Maekawa, M; Hashizume, H

    2014-11-01

    IgG4-related disease (IgG4-RD) is a recently established clinical entity characterized by high levels of circulating IgG4, and tissue infiltration of IgG4(+) plasma cells. IgG4-RD exhibits a distinctive fibroinflammatory change involving multiple organs, such as the pancreas and salivary and lacrimal glands. The skin lesions of IgG4-RD have been poorly characterized and may stem not only from direct infiltration of plasma cells but also from IgG4-mediated inflammation. Based on the documented cases together with ours, we categorized the skin lesions into seven subtypes: (1) cutaneous plasmacytosis (multiple papulonodules or indurations on the trunk and proximal part of the limbs), (2) pseudolymphoma and angiolymphoid hyperplasia with eosinophilia (plaques and papulonodules mainly on the periauricular, cheek and mandible regions), (3) Mikulicz disease (palpebral swelling, sicca syndrome and exophthalmos), (4) psoriasis-like eruption (strikingly mimicking psoriasis vulgaris), (5) unspecified maculopapular or erythematous eruptions, (6) hypergammaglobulinaemic purpura (bilateral asymmetrical palpable purpuric lesions on the lower extremities) and urticarial vasculitis (prolonged urticarial lesions occasionally with purpura) and (7) ischaemic digit (Raynaud phenomenon and digital gangrene). It is considered that subtypes 1-3 are induced by direct infiltration of IgG4(+) plasma cells, while the other types (4-7) are caused by secondary mechanisms. IgG4-related skin disease is defined as IgG4(+) plasma-cell-infiltrating skin lesions that form plaques, nodules or tumours (types 1-3), but may manifest secondary lesions caused by IgG4(+) plasma cells and/or IgG4 (types 4-7). PMID:25065694

  10. Medicinal plants used in treatment of inflammatory skin diseases

    PubMed Central

    2013-01-01

    Skin is an organ providing contact with the environment and protecting the human body from unfavourable external factors. Skin inflammation, reflected adversely in its functioning and appearance, also unfavourably affects the psyche, the condition of which is important during treatment of chronic skin diseases. The use of plants in treatment of inflammatory skin diseases results from their influence on different stages of inflammation. The paper presents results of the study regarding the anti-inflammatory activity of the plant raw material related to its influence on skin. The mechanism of action, therapeutic indications and side effects of medicinal plants used for treatment of inflammatory diseases of the skin are described. PMID:24278070

  11. Pedigree analysis of Mexican families with Fabry disease as a powerful tool for identification of heterozygous females.

    PubMed

    Gutiérrez-Amavizca, B E; Orozco-Castellanos, R; R Padilla-Gutiérrez, J; Valle, Y; Figuera, L E

    2014-01-01

    Fabry disease (FD) is an X-linked lysosomal storage disease caused by α-galactosidase A deficiency; in contrast to other X-linked diseases, heterozygous females can be as affected as men. The construction and analysis of a family pedigree is a powerful tool to aid clinicians in diagnosis, establishment of inheritance pattern, and early detection of potentially affected relatives. The present study highlights the importance of pedigree analysis in families with FD for identifying other possibly affected relatives and investigating the clinical manifestations. This clinical report included 12 Mexican index cases with confirmed FD diagnosis. We constructed and analyzed their pedigree, and diagnosed FD in 24 affected relatives. Clinical features were similar to those reported for other populations. Pedigree analysis further identified an additional 30 women as possible carriers. We conclude that pedigree construction and analysis is a useful tool to help physicians detect and diagnose relatives at risk for FD, particularly heterozygous females, so that they can receive genetic counseling and early treatment. Mexican families with FD were similar to other populations reported in the literature, and our findings confirmed that heterozygous females can have signs and symptoms ranging from subtle manifestations to the classical severe presentation described in males. PMID:25177955

  12. Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

    PubMed Central

    Lukas, Jan; Torras, Joan; Navarro, Itziar; Giese, Anne-Katrin; Böttcher, Tobias; Mascher, Hermann; Lackner, Karl J.; Fauler, Guenter; Paschke, Eduard; Cruzado, Josep M.; Dudesek, Ales; Wittstock, Matthias; Meyer, Wolfgang; Rolfs, Arndt

    2012-01-01

    Background Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient plasma and urine were carried out using HPLC/MS-MS and ESI-MS. Results In the presented case, a female index patient led to the examination of three generations of a Spanish family. She presented with severe oto-cochlear symptoms and covert renal and cardiac involvement. While conventional sequencing failed to detect a causative mutation, MLPA analysis revealed a deletion within the GLA gene locus, which we were able to map to a region spanning exon 2 and adjacent intronic parts. The analysis of different biomarkers revealed elevated lyso-Gb3 levels in all affected family members. Conclusion Our findings highlight the broad intrafamilial spectrum of symptoms of FD and emphasise the need to use MLPA screening in symptomatic females without conclusive sequencing result. Finally, plasma lyso-Gb3 proved to be a reliable biomarker for the diagnosis of FD. PMID:26019814

  13. Oral mucosal manifestations of autoimmune skin diseases.

    PubMed

    Mustafa, Mayson B; Porter, Stephen R; Smoller, Bruce R; Sitaru, Cassian

    2015-10-01

    A group of autoimmune diseases is characterised by autoantibodies against epithelial adhesion structures and/or tissue-tropic lymphocytes driving inflammatory processes resulting in specific pathology at the mucosal surfaces and the skin. The most frequent site of mucosal involvement in autoimmune diseases is the oral cavity. Broadly, these diseases include conditions affecting the cell-cell adhesion causing intra-epithelial blistering and those where autoantibodies or infiltration lymphocytes cause a loss of cell-matrix adhesion or interface inflammation. Clinically, patients present with blistering, erosions and ulcers that may affect the skin as well as further mucosal surfaces of the eyes, nose and genitalia. While the autoimmune disease may be suspected based on clinical manifestations, demonstration of tissue-bound and circulating autoantibodies, or lymphocytic infiltrates, by various methods including histological examination, direct and indirect immunofluorescence microscopy, immunoblotting and quantitative immunoassay is a prerequisite for definitive diagnosis. Given the frequency of oral involvement and the fact that oral mucosa is the initially affected site in many cases, the informed practitioner should be well acquainted with diagnostic and therapeutic aspects of autoimmune dermatosis with oral involvement. This paper reviews the pathogenesis and clinical presentation of these conditions in the oral cavity with a specific emphasis on their differential diagnosis and current management approaches. PMID:26117595

  14. Phototherapy and photochemotherapy of skin diseases

    SciTech Connect

    Parrish, J.A.

    1981-07-01

    One important aspect of photomedicine is the use of nonionizing electromagnetic radiation with and without exogenous photosensitizers to treat diseases. Phototoxicity (cell injury by photons) is a likely mechanism for phototherapy and photochemotherapy of several skin diseases. The mechanism of action for phototherapy of hyperbilirubinemia and of uremic pruritus appears to be photochemical alteration of extracellular metabolites. Psoriasis is an example of a disease benefitted by several forms of phototherapy and photochemotherapy with varying relative effectiveness and safety. Two successful forms of treatment are oral psoralen photochemotherapy and UVB plus topical adjunctive agents. New information about UVB therapy of psoriasis includes data about the therapeutic action spectrum and about the relative roles of various topical agents such as coal tar, mineral oil, ''lubricants'' and steroids. Although there are many surface similarities, phototherapy and psoralen photochemotherapy have fundamental differences which may alter longterm risks in quantitative and qualitative ways.

  15. Skin problems in chronic kidney disease.

    PubMed

    Kuypers, Dirk R J

    2009-03-01

    Skin disorders associated with chronic kidney disease (CKD) can markedly affect a patient's quality of life and can negatively impact their mental and physical health. Uremic pruritus, which is frequently encountered in patients with CKD, is considered to be an inflammatory systemic disease rather than a local skin disorder. Biomarkers of inflammation are increased in patients with uremic pruritus and an imbalance of the endogenous opioidergic system might be involved in the complex pathogenesis of the disease. Treatment options for uremic pruritus include emollients, topical capsaicin cream, ultraviolet B phototherapy, gabapentin, oral activated charcoal and nalfurafine, a kappa-opioid-receptor agonist. Calcific uremic arteriolopathy is triggered by an imbalance of promoters and inhibitors of vascular calcification, caused by the inflammatory changes that occur in uremia. Promising therapeutic strategies for calcific uremic arteriolopathy include bisphosphonates and intravenous sodium thiosulfate. Nephrogenic systemic fibrosis is a devastating condition associated with the use of gadolinium-based contrast agents in patients with CKD. At present, no therapies are available for this complication. Preventive measures include use of iodine-based contrast agents, particularly in patients with CKD stage 4 and 5. If gadolinium contrast is necessary, administration of low volumes of the more stable macrocyclic ionic types of gadolinium-based contrast agent is advocated. Hemodialysis following gadolinium exposure might offer benefits but evidence is lacking. PMID:19190625

  16. Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease

    PubMed Central

    Sakuraba, Hitoshi; Tsukimura, Takahiro; Tanaka, Toshie; Togawa, Tadayasu; Takahashi, Naoki; Mikami, Daisuke; Wakai, Sachiko; Akai, Yasuhiro

    2015-01-01

    Background: The existence of membranous cytoplasmic bodies in biopsied kidney tissues is one of the important findings when considering Fabry disease as the first choice diagnosis. However, there are possible acquired lysosomal diseases associated with pharmacological toxicity, although less attention has been paid to them. Case Presentation: We experienced 3 male patients presenting with proteinuria and specific pathological changes strongly suggesting Fabry disease. We sought detailed clinical and biochemical information to avoid a wrong diagnosis. The patients were examined clinically and pathologically, and plasma α-galactosidase A (GLA) activity and the globotriaosylsphingosine (lyso-Gb3) concentrations were measured. Electron microscopic examination revealed numerous membranous inclusion bodies in podocytes, and biochemical analysis revealed normal GLA activity and a normal lyso-Gb3 level in plasma, showing that they did not have Fabry disease. They suffered from hyperlipidemia, myeloma, or lupus nephritis. They had received pitavastatin calcium, clarithromycin, loxoprofen and/or prednisolone, and there was no medication history of cationic amphiphilic drugs. Conclusions: In this case series, the etiology of the inclusions was not clarified. However, these cases indicate that careful attention should be paid on diagnosis of patients exhibiting inclusion bodies in kidney cells, and it is important to confirm their past and present illnesses, and medication history as well as to measure the GLA activity and lyso-Gb3 level. PMID:26312237

  17. Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease

    PubMed Central

    Sueoka, Hideaki; Aoki, Mikio; Tsukimura, Takahiro; Togawa, Tadayasu; Sakuraba, Hitoshi

    2015-01-01

    Fabry disease is caused by deficient activity of α-galactosidase A (GLA) and characterized by systemic accumulation of glycosphingolipids, substrates of the enzyme. To gain insight into the pathogenesis of Fabry disease based on accumulated substrates, we examined the tissue and plasma distributions of globotriaosylceramide (Gb3) isoforms, and globotriaosylsphingosine (lyso-Gb3) and its analogues in a GLA knockout mouse, a model of Fabry disease, by means of liquid chromatography-mass spectrometry and nano-liquid chromatography-tandem mass spectrometry, respectively. The results revealed that the contents of these substrates in the liver, kidneys, heart, and plasma of GLA knockout mice were apparently higher than in those of wild-type ones, and organ specificity in the accumulation of Gb3 isoforms was found. Especially in the kidneys, accumulation of a large amount of Gb3 isoforms including hydroxylated residues was found. In the GLA knockout mice, the proportion of hydrophobic Gb3 isoforms was apparently higher than that in the wild-type mice. On the other hand, hydrophilic residues were abundant in plasma. Unlike that of Gb3, the concentration of lyso-Gb3 was high in the liver, and the lyso-Gb3/Gb3 ratio in plasma was significantly higher than those in the organs. The concentration of lyso-Gb3 was apparently higher than those of its analogues in the organs and plasma from both the GLA knockout and wild-type mice. This information will be useful for elucidating the basis of Fabry disease. PMID:26661087

  18. Psoriasis: experiencing a chronic skin disease.

    PubMed

    Chrissopoulos, A; Cleaver, G

    1996-03-01

    Psoriasis is an incurable chronic skin disease that affects one in fifty people. Psychological factors play a role in the aetiology and experience of psoriasis but there is little pertaining to the psychological experience of psoriasis in research literature. In this study the phenomenological approach is used to describe the everyday experiences of a person with psoriasis. By using Giorgi's (1985) steps of data analysis a description of the lifeworld of the person with psoriasis was compiled. The description presented several essential components of the experience of psoriasis and the results emphasize the effects of the disease on the sufferer's life. Problematic interpersonal relationships, a negative selfconcept, fluctuating moods, loss of control, negativity and loneliness are a part of this experience. It is hoped that knowledge of the world of the psoriasis sufferer will assist the help professions to understanding and empathize with the suffering and limitations that psoriasis brings. PMID:9257576

  19. Skin Diseases: Cross-section of human skin

    MedlinePlus

    ... NIAMS) has a wide range of topics under study and through funding of research outside NIAMS. These include disorders such as psoriasis, atopic dermatitis and other chronic inflammatory skin disorders, acne, and many others. Fall 2008 Issue: Volume 3 ...

  20. Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y

    PubMed Central

    Oder, Daniel; Üçeyler, Nurcan; Liu, Dan; Hu, Kai; Petritsch, Bernhard; Sommer, Claudia; Ertl, Georg; Wanner, Christoph; Nordbeck, Peter

    2016-01-01

    Objectives The severity of Fabry disease is dependent on the type of mutation in the α-galactosidase A (AgalA) encoding gene (GLA). This study focused on the impact of the GLA haplotype D313Y on long-term organ involvement and function. Setting and participants In this monocentric study, all participants presenting with the D313Y haplotype between 2001 and 2015 were comprehensively clinically investigated at baseline and during a 4-year follow-up if available. Five females and one male were included. Primary and secondary outcome measures Cardiac, nephrological, neurological, laboratory and quality of life data. Results AgalA enzyme activity in leucocytes (0.3±0.9 nmol/min/mg protein (mean±SD)) and serum lyso-Gb3 (0.6±0.3 ng/mL at baseline) were in normal range in all patients. Cardiac morphology and function were normal (left-ventricular (LV) ejection fraction 66±8%; interventricular septum 7.7±1.4 mm; LV posterior wall 7.5±1.4 mm; normalised LV mass in MRI 52±9 g/m2; LV global longitudinal strain −21.6±1.9%) and there were no signs of myocardial fibrosis in cardiac MRI. Cardiospecific biomarkers were also in normal range. Renal function was not impaired (estimated glomerular filtration rate MDRD 103±15 mL/min; serum-creatinine 0.75±0.07 mg/dL; cystatin-c 0.71±0.12 mg/L). One female patient (also carrying a Factor V Leiden mutation) had a transitory ischaemic attack. One patient showed white matter lesions in brain MRI, but none had Fabry-associated pain attacks, pain crises, evoked pain or permanent pain. Health-related quality of life analysis revealed a reduction in individual well-being. At long-term follow-up after 4 years, no significant change was seen in any parameter. Conclusions The results of the current study suggest that the D313Y genotype does not lead to severe organ manifestations as seen in genotypes known to be causal for classical FD. PMID:27059467

  1. Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

    PubMed Central

    Keslová-Veselíková, Jana; Hůlková, Helena; Dobrovolný, Robert; Asfaw, Befekadu; Poupětová, Helena; Berná, Linda; Sikora, Jakub; Goláň, Lubor

    2008-01-01

    The function and intracellular delivery of enzyme therapeutics for Fabry disease were studied in cultured fibroblasts and in the biopsied tissues of two male patients to show diversity of affected cells in response to treatment. In the mutant fibroblasts cultures, the final cellular level of endocytosed recombinant α-galactosidases A (agalsidases, FabrazymeTM, and ReplagalTM) exceeded, by several fold, the amount in control fibroblasts and led to efficient direct intra-lysosomal hydrolysis of (3H)Gb3Cer. In contrast, in the samples from the heart and some other tissues biopsied after several months of enzyme replacement therapy (ERT) with FabrazymeTM, only the endothelial cells were free of storage. Persistent Gb3Cer storage was found in cardiocytes (accompanied by increase of lipopigment), smooth muscle cells, fibroblasts, sweat glands, and skeletal muscle. Immunohistochemistry of cardiocytes demonstrated, for the first time, the presence of a considerable amount of the active enzyme in intimate contact with the storage compartment. Factors responsible for the limited ERT effectiveness are discussed, namely post-mitotic status of storage cells preventing their replacement by enzyme supplied precursors, modification of the lysosomal system by longstanding storage, and possible relative lack of Sap B. These observations support the strategy of early treatment for prevention of lysosomal storage. PMID:18351385

  2. Mutant α-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

    PubMed Central

    Ishii, Satoshi; Chang, Hui-Hwa; Kawasaki, Kunito; Yasuda, Kayo; Wu, Hui-Li; Garman, Scott C.; Fan, Jian-Qiang

    2007-01-01

    Fabry disease is a lysosomal storage disorder caused by the deficiency of α-Gal A (α-galactosidase A) activity. In order to understand the molecular mechanism underlying α-Gal A deficiency in Fabry disease patients with residual enzyme activity, enzymes with different missense mutations were purified from transfected COS-7 cells and the biochemical properties were characterized. The mutant enzymes detected in variant patients (A20P, E66Q, M72V, I91T, R112H, F113L, N215S, Q279E, M296I, M296V and R301Q), and those found mostly in mild classic patients (A97V, A156V, L166V and R356W) appeared to have normal Km and Vmax values. The degradation of all mutants (except E59K) was partially inhibited by treatment with kifunensine, a selective inhibitor of ER (endoplasmic reticulum) α-mannosidase I. Metabolic labelling and subcellular fractionation studies in COS-7 cells expressing the L166V and R301Q α-Gal A mutants indicated that the mutant protein was retained in the ER and degraded without processing. Addition of DGJ (1-deoxygalactonojirimycin) to the culture medium of COS-7 cells transfected with a large set of missense mutant α-Gal A cDNAs effectively increased both enzyme activity and protein yield. DGJ was capable of normalizing intracellular processing of mutant α-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients. In addition, the residual enzyme activity in fibroblasts or lymphoblasts from both classic and variant hemizygous Fabry disease patients carrying a variety of missense mutations could be substantially increased by cultivation of the cells with DGJ. These results indicate that a large proportion of mutant enzymes in patients with residual enzyme activity are kinetically active. Excessive degradation in the ER could be responsible for the deficiency of enzyme activity in vivo, and the DGJ approach may be broadly applicable to Fabry disease patients with missense mutations. PMID:17555407

  3. Sarcoptic mange: a zoonotic ectoparasitic skin disease.

    PubMed

    Bandi, Kiran Madhusudhan; Saikumar, Chitralekha

    2013-01-01

    A 56-year old man attended the Dermatology Outpatients Department with the complaint of a localized, extremely itchy, erythematous papular lesion of acute onset on the ventral aspect of the right thigh. The patient was referred to the Microbiology Lab for the microscopic detection of the fungal elements. The KOH mount from the skin scrapings showed no fungal elements, but it showed the mites of Sarcopetes scabiei mange. The Sarcoptic Mange is noteworthy because of the fact that it is a zoonotic disease which can easily be passed on to humans. A close contact with infested pet dogs was considered as the main predisposing factor in this case. The response to the antiscabietic treatment was dramatic. PMID:23450734

  4. Sarcoptic Mange: A Zoonotic Ectoparasitic Skin Disease

    PubMed Central

    Bandi, Kiran Madhusudhan; Saikumar, Chitralekha

    2013-01-01

    A 56-year old man attended the Dermatology Outpatients Department with the complaint of a localized, extremely itchy, erythematous papular lesion of acute onset on the ventral aspect of the right thigh. The patient was referred to the Microbiology Lab for the microscopic detection of the fungal elements. The KOH mount from the skin scrapings showed no fungal elements, but it showed the mites of Sarcopetes scabiei mange. The Sarcoptic Mange is noteworthy because of the fact that it is a zoonotic disease which can easily be passed on to humans. A close contact with infested pet dogs was considered as the main predisposing factor in this case. The response to the antiscabietic treatment was dramatic. PMID:23450734

  5. National Athletic Trainers' Association Position Statement: Skin Diseases

    PubMed Central

    Zinder, Steven M.; Basler, Rodney S. W.; Foley, Jack; Scarlata, Chris; Vasily, David B.

    2010-01-01

    Abstract Objective: To present recommendations for the prevention, education, and management of skin infections in athletes. Background: Trauma, environmental factors, and infectious agents act together to continually attack the integrity of the skin. Close quarters combined with general poor hygiene practices make athletes particularly vulnerable to contracting skin diseases. An understanding of basic prophylactic measures, clinical features, and swift management of common skin diseases is essential for certified athletic trainers to aid in preventing the spread of infectious agents. Recommendations: These guidelines are intended to provide relevant information on skin infections and to give specific recommendations for certified athletic trainers and others participating in athletic health care. PMID:20617918

  6. Inflammatory Bowel Disease and Skin Cancer: An Assessment of Patient Risk Factors, Knowledge, and Skin Practices

    PubMed Central

    Kimmel, Jessica N.; Taft, Tiffany H.; Keefer, Laurie

    2016-01-01

    Objective. Patients with inflammatory bowel disease (IBD) are at increased risk from skin cancer. Aims include assessing IBD patients' risk factors and knowledge of skin cancer and current skin protection practices to identify gaps in patient education regarding skin cancer prevention in IBD. Methods. IBD patients ≥ 18 years were recruited to complete an online survey. Results. 164 patients (mean age 43.5 years, 63% female) with IBD (67% Crohn's disease, 31% ulcerative colitis, and 2% indeterminate colitis) were included. 12% (n = 19) of patients had a personal history and 34% (n = 55) had a family history of skin cancer. Females scored better on skin protection (16.94/32 versus 14.53/32, P ≤ 0.03) and awareness (35.16/40 versus 32.98/40, P ≤ 0.03). Patients over 40 years old scored better on prevention (17.45/28 versus 15.35/28, P = 0.03). Patients with skin cancer scored better on prevention (20.56/28 versus 15.75/28, P ≤ 0.001) and skin protection (21.47/32 versus 15.33/32, P ≤ 0.001). 61% of patients recognized the link between skin cancer and IBD. Conclusions. The majority of IBD patients are aware of the link between skin cancer and IBD; however, skin protection practices are suboptimal. This emphasizes the role of healthcare professionals in providing further education for skin cancer prevention in the IBD population. PMID:27034838

  7. Reduced Right Ventricular Native Myocardial T1 in Anderson-Fabry Disease: Comparison to Pulmonary Hypertension and Healthy Controls

    PubMed Central

    Pagano, Joseph J.; Chow, Kelvin; Khan, Aneal; Michelakis, Evangelos; Paterson, Ian; Oudit, Gavin Y.; Thompson, Richard B.

    2016-01-01

    Aims Anderson-Fabry disease (AFD) is characterized by progressive multiorgan accumulation of intracellular sphingolipids due to α-galactosidase A enzyme deficiency, resulting in progressive ventricular hypertrophy, heart failure, arrhythmias, and death. Decreased native (non-contrast) left ventricular (LV) T1 (longitudinal relaxation time) with MRI discriminates AFD from healthy controls or other presentations of concentric hypertrophy, but the right ventricle (RV) has not been studied. The aims of the current study were to evaluate native RV T1 values in AFD, with a goal of better understanding the pathophysiology of RV involvement. Methods and Results Native T1 values were measured in the inferior RV wall (RVI), interventricular septum (IVS), and inferior LV (LVI) in patients with AFD, patients with pulmonary hypertension, who provided an alternative RV pathological process for comparison, and healthy controls. A minimum wall thickness of 4 mm was selected to minimize partial volume errors in tissue T1 analysis. T1 analysis was performed in 6 subjects with AFD, 6 subjects with PH, and 21 controls. Native T1 values were shorter (adjusted p<0.05 for all comparisons), independent of location, in subjects with AFD (RVI-T1 = 1096±49 ms, IVS-T1 = 1053±41 ms, LVI-T1 = 1072±44 ms) compared to both PH (RVI-T1 = 1239±41 ms, IVS-T1 = 1280±123 ms, LVI-T1 = 1274±57 ms) and HC (IVS-T1 = 1180±60 ms, LVI-T1 = 1183±45 ms). RVI measurements were not possible in controls due to insufficient wall thickness. Conclusion Native T1 values appear similarly reduced in the left and right ventricles of individuals with AFD and RV wall thickening, suggesting a common pathology. In contrast, individuals with PH and thickened RVs showed increased native T1 values in both ventricles, suggestive of fibrosis. PMID:27305064

  8. A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

    PubMed

    van der Tol, L; Smid, B E; Poorthuis, B J H M; Biegstraaten, M; Deprez, R H Lekanne; Linthorst, G E; Hollak, C E M

    2014-01-01

    Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD screening studies was performed to interpret the significance of GLA gene variants and to calculate the prevalence of definite classical and uncertain cases. We searched PubMed and Embase for screening studies on FD. We collected data on screening methods, clinical, biochemical and genetic assessments. The pooled prevalence of identified subjects and those with a definite diagnosis of classical FD were calculated. As criteria for a definite diagnosis, we used the presence of a GLA variant, absent or near-absent leukocyte enzyme activity and characteristic features of FD. Fifty-one studies were selected, 45 in high-risk and 6 in newborn populations. The most often used screening method was an enzyme activity assay. Cut-off values comprised 10-55% of the mean reference value for men and up to 80% for women. Prevalence of GLA variants in newborns was 0.04%. In high-risk populations the overall prevalence of individuals with GLA variants was 0.62%, while the prevalence of a definite diagnosis of FD was 0.12%. The majority of identified individuals in high-risk and newborn populations harbour GVUS or neutral variants in the GLA gene. To determine the pathogenicity of a GVUS in an individual, improved diagnostic criteria are needed. We propose a diagnostic algorithm to approach the individual with an uncertain diagnosis. PMID:23922385

  9. Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up

    PubMed Central

    Korsholm, Kirsten; Feldt-Rasmussen, Ulla; Granqvist, Henrik; Højgaard, Liselotte; Bollinger, Birgit; Rasmussen, Aase K.; Law, Ian

    2015-01-01

    Background Fabry disease is a rare metabolic glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme α-galactosidase A—leading to cellular accumulation of globotriasylceramide in different organs, vessels, tissues, and nerves. The disease is associated with an increased risk of cerebrovascular disease at a young age in addition to heart and kidney failure. Objective The objective of this study was to assess brain function and structure in the Danish cohort of patients with Fabry disease in a prospective way using 18-fluoro-deoxyglucose (F-18 FDG) positron emission tomography (PET) and magnetic resonance imaging (MRI). Patients Forty patients with Fabry disease (14 males, 26 females, age at inclusion: 10–66 years, median: 39 years) underwent a brain F-18-FDG-PET-scan at inclusion, and 31 patients were followed with FDG-PET biannually for up to seven years. All patients (except one) had a brain MRI-scan at inclusion, and 34 patients were followed with MRI biannually for up to nine years. Image Analysis The FDG-PET-images were inspected visually and analysed using a quantitative 3-dimensional stereotactic surface projection analysis (Neurostat). MRI images were also inspected visually and severity of white matter lesions (WMLs) was graded using a visual rating scale. Results In 28 patients brain-FDG-PET was normal; in 23 of these 28 patients brain MRI was normal—of the remaining five patients in this group, four patients had WMLs and one patient never had an MRI-scan. In 10 patients hypometabolic areas were observed on brain-FDG-PET; all of these patients had cerebral infarcts/hemorrhages visualized on MRI corresponding to the main hypometabolic areas. In two patients brain-FDG-PET was ambiguous, while MRI was normal in one and abnormal in the other. Conclusion Our data indicated that, in patients with Fabry disease, MRI is the preferable clinical modality—if applicable—when monitoring cerebral status, as no additional major brain

  10. Lumpy Skin Disease in Iraq: Study of the Disease Emergence.

    PubMed

    Al-Salihi, K A; Hassan, I Q

    2015-10-01

    This study intends to report the first emergence of lumpy skin disease (LSD) in Iraq, in addition to describing its related clinical signs. In August 2013, 21 cases of four outbreaks developed clinical signs suggestive of LSD in the Nineveh (Mosul) and Baghdad Governorates, which were considered as the first infected foci of LSD in Iraq. The disease was diagnosed tentatively, on the basis of clinical signs and epidemiological features, and it was confirmed as positive by the polymerase chain reaction and histopathological features. In September 2013, eight new outbreaks of LSD also appeared in Baghdad and Nineveh. In 2014, the disease spread rapidly to the governorates of Kirkuk, Salah Al-Din, Al-Anbar, Diyala, Wasit, Babil, Karbala, Najaf, Al-Diwaniyah, Muthanna, Maysan, DhiQar and Basra. The total number of infected cows and calves reported was 7396 and 227, respectively. The apparent morbidity and mortality rates were 9.11% and 0.51%, respectively, while the apparent case-fatality rate was 5.56%. Skin nodules, anorexia, reduce in milk production and decrease in bodyweight were the common clinical signs. Moreover, myiasis and mastitis were seen as complications in some infected animals. Attempts were made to stop the distribution of the disease including quarantine and treatment, control over animal movement and arthropod control. Ring vaccination was used in a 10 km radius zone around the outbreak with live sheep pox vaccine. The highly contagious transboundary nature of the LSD, its endemic distribution in the Iraqi neighbouring countries, and the current armed conflict in the area were the possible factors for the disease being introduced into the country. LSD had spread through the Middle East and Gulf peninsula and could be a cause of danger to the rest of Asia and Europe. International precaution, cooperation and exchange of information could guarantee the prevention and further spread of the disease to the rest of Asia and Europe. PMID:26105081

  11. [The notion of occupational skin disease. Medical and legal aspects].

    PubMed

    Elsner, P; Schliemann, S

    2015-03-01

    The different definitions of skin disease in medicine and in law are frequently confusing for dermatologists. While a skin disease may be defined medically referring to the definition of health by the WHO as a pathological condition of the skin leading to a disruption of the physical, mental and social well-being of the individual, legal definitions vary depending on the field of insurance law that is referred to. In the law of private health insurance, a skin disease is defined as an anomalous condition of the skin requiring medical treatment that exists independently of the subjective judgement of the insured person and needs to be objectively confirmed by a medical evaluation. In contrast, in the law of the social health insurance, the Federal Court of Social Justice defines disease as irregular physical or mental condition, deviating from the perception of a healthy human being that requires medical treatment or leads to inability to work. Substantial bodily disfigurement may be regarded as an irregular physical condition. In the law of the statutory accident insurance, occupational skin diseases are defined under clause 5101 of the occupational disease regulation as serious or repeatedly relapsing skin diseases that have forced a person to refrain from any work activities causal for the development, the aggravation or the recurrence of the disease. The Federal Court of Social Justice interprets the term "skin disease" from the protective purpose of the law, i.e. the protection against the economic and health consequences of the exposure to harmful agents and a thereby forced change of profession. This broad interpretation of the term "skin disease" leads to the recognition of diseases of the conjunctiva of the eye or diseases of the blood vessels of the skin due to cold damage as skin diseases according to clause 5101. For the correct treatment and possibly notification of occupational skin diseases in collaboration with various insurance carriers

  12. Functions of the skin microbiota in health and disease

    PubMed Central

    Sanford, James A.; Gallo, Richard L.

    2014-01-01

    The skin, the human body’s largest organ, is home to a diverse and complex variety of innate and adaptive immune functions. Despite this potent immune system present at the cutaneous barrier, the skin encourages colonization by microorganisms. Characterization these microbial communities has enhanced our knowledge of the ecology of organisms present in normal skin; furthermore, studies have begun to bring to light the intimate relationships shared between host and resident microbes. In particular, it is apparent that just as host immunological factors and behaviors shape the composition of these communities, microbes present on the skin greatly impact the functions of human immunity. Thus, today the skin immune system should be considered a collective mixture of elements from the host and microbes acting in a mutualistic relationship. In this article we will review recent findings of the interactions of skin microbial communities with host immunity, and discuss the role that dysbiosis of these communities plays in diseases of the skin. PMID:24268438

  13. Percutaneous absorption in diseased skin: an overview.

    PubMed

    Chiang, Audris; Tudela, Emilie; Maibach, Howard I

    2012-08-01

    The stratum corneum's (SC) functions include protection from external hazardous environments, prevention of water loss and regulation of body temperature. While intact skin absorption studies are abundant, studies on compromised skin permeability are less common, although products are often used to treat affected skin. We reviewed literature on percutaneous absorption through abnormal skin models. Tape stripping is used to disrupt water barrier function. Studies demonstrated that physicochemical properties influence the stripping effect: water-soluble drugs are more affected. Abrasion did not affect absorption as much. Freezing is commonly used to preserve skin. It does not seem to modify water absorption, but still increases the penetration of compounds. Comparatively, heating the skin consistently increased percutaneous absorption. Removing SC lipids may increase percutaneous absorption of drugs. Many organic solvents are employed to delipidize. Delipidization with chloroform-methanol increased hydrophilic compound permeability, but not lipophilic. Acetone pre-treatment enhanced hydrophilic compound penetration. More data is needed to determine influence on highly lipophilic compound penetration. Sodium lauryl sulfate (SLS) induces irritant dermatitis and is frequently used as a model. Studies revealed that SLS increases hydrophilic compound absorption, but not lipophilic. However, skin irritation with other chemicals increases lipophilic penetration as much as hydrophilic. Animal studies show that UV exposure increases percutaneous absorption whereas human studies do not. Human studies show increased penetration in psoriatic and atopic dermatitis skin. The data summarized here begin to characterize flux alteration associated with damaged skin. Understanding the degree of alteration requires interpretation of involved conditions and the enlarging of our database to a more complete physicochemical spectrum. PMID:22912973

  14. Study on application of optical clearing technique in skin diseases

    NASA Astrophysics Data System (ADS)

    Shan, Hao; Liang, Yanmei; Wang, Jingyi; Li, Yan

    2012-11-01

    So far, the study of the optical clearing is almost always about healthy tissue. However, the ultimate goal is to detect diseases for clinical application. Optical clearing on diseased skins is explored. The effect is evaluated by applying a combined liquid paraffin and glycerol mixed solution on several kinds of diseased skins in vitro. Scanning experiments from optical coherence tomography show that it has different effects among fibroma, pigmented nevus, and seborrheic keratosis. Based on the results, we conclude that different skin diseases have different compositions and structures, and their optical parameters and biological characteristics should be different, which implies that the optical clearing technique may have selectivity and may not be suitable for all kinds of skin diseases.

  15. Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

    PubMed

    Yasuda, Makiko; Shabbeer, Junaid; Benson, Stacy D; Maire, Irene; Burnett, Roger M; Desnick, Robert J

    2003-12-01

    Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the gene encoding the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-Gal A; GLA). In two unrelated classically affected males, two alpha-Gal A missense mutations were identified: R112C + D313Y (c.334C>T + c.937G>T) and C172G + D313Y (c.514T>G + c.937G>T). The D313Y lesion was previously identified in classically affected males as the single mutation [Eng et al., 1993] or in cis with another missense mutation, D313Y + G411D (c.937G>T + c.1232G>A) [Guffon et al., 1998]. To determine whether the D313Y mutation was a deleterious mutation or a coding region sequence variant, the frequency of D313Y in normal X-chromosomes, as well as its enzymatic activity and subcellular localization in COS-7 cells was determined. D313Y occurred in 0.45% of 883 normal X-chromosomes, while the R112C, C172G, and G411D missense mutations were not detected in over 500 normal X-chromosomes. Expression of D313Y in COS-7 cells resulted in approximately 60% of wild-type enzymatic activity and showed lysosomal localization, while R112C, C172G, G411D, and the double-mutated constructs had markedly reduced or no detectable activity and were all retained in the endoplasmic reticulum. The expressed D313Y enzyme was stable at lysosomal pH (pH 4.6), while at neutral pH (pH 7.4), it had decreased activity. A molecular homology model of human alpha-Gal A, based on the X-ray crystal structure of chicken alpha-galactosidase B (alpha-Gal B; alpha-N-acetylgalactosaminidase) was generated [Garman et al., 2002], which provided evidence that D313Y did not markedly disrupt the alpha-Gal A enzyme structure. Thus, D313Y is a rare exonic variant with about 60% of wild-type activity in vitro and reduced activity at neutral pH, resulting in low plasma alpha-Gal A activity. PMID:14635108

  16. Metamaterial-based sensor for skin disease diagnostics

    NASA Astrophysics Data System (ADS)

    La Spada, L.; Iovine, R.; Tarparelli, R.; Vegni, L.

    2013-05-01

    Skin absorption properties, under diseases conditions, are modified due to the structural variations of chromophores and pigments. The measurement of such different absorptions can be a useful tool for the recognition of different skin diseases. In this study the design of a multi-resonant metamaterial-based sensor operating in the optical frequency range is presented. The sensor has been designed, in order to have multiple specific resonant frequencies, tuned to the skin components spectral characteristics. A change in the frequency amplitude of the sensor response is related to the different absorption rate of skin chromophores and pigments. A new analytical model, describing the multi-resonant sensor behaviour, is developed. Good agreement among analytical and numerical results was achieved. Full-wave simulations have validated the capability of the proposed sensor to identify different skin diseases.

  17. Accurate quantification of sphingosine-1-phosphate in normal and Fabry disease plasma, cells and tissues by LC-MS/MS with (13)C-encoded natural S1P as internal standard.

    PubMed

    Mirzaian, Mina; Wisse, Patrick; Ferraz, Maria J; Marques, André R A; Gabriel, Tanit L; van Roomen, Cindy P A A; Ottenhoff, Roelof; van Eijk, Marco; Codée, Jeroen D C; van der Marel, Gijsbert A; Overkleeft, Herman S; Aerts, Johannes M

    2016-08-01

    We developed a mass spectrometric procedure to quantify sphingosine-1-phosphate (S1P) in biological materials. The use of newly synthesized (13)C5 C18-S1P and commercial C17-S1P as internal standards rendered very similar results with respect to linearity, limit of detection and limit of quantitation. Caution is warranted with determination of plasma S1P levels. Earlier it was reported that S1P is elevated in plasma of Fabry disease patients. We investigated this with the improved quantification. No clear conclusion could be drawn for patient plasma samples given the lack of uniformity of blood collection and plasma preparation. To still obtain insight, plasma and tissues were identically collected from α-galactosidase A deficient Fabry mice and matched control animals. No significant difference was observed in plasma S1P levels. A significant 2.3 fold increase was observed in kidney of Fabry mice, but not in liver and heart. Comparative analysis of S1P in cultured fibroblasts from normal subjects and classically affected Fabry disease males revealed no significant difference. In conclusion, accurate quantification of S1P in biological materials is feasible by mass spectrometry using the internal standards (13)C5 C18-S1P or C17-S1P. Significant local increases of S1P in the kidney might occur in Fabry disease as suggested by the mouse model. PMID:27221202

  18. Pattern of Skin Diseases in a Tertiary Institution in Kolkata

    PubMed Central

    Kar, Chinmay; Das, Sudip; Roy, Alok Kumar

    2014-01-01

    Background: There are very little elaborative studies in India about various patterns of skin diseases and various factors those influence the diseases in a tertiary institution. Aims: To find out the various patterns of skin diseases in relation to age, sex, occupation, and socio-economic status. To find out the magnitude of skin diseases and compare with other similar studies. Materials and Methods: Collection of data of all new skin cases in a specified period of one year and put on proforma for diagnosis. Few investigations were done for correct diagnosis. Results: It was found that skin OPD patients (new) were 4.16% of total new OPD patients, and male female ratio was 1.1:1. Among all patients (12910), infection was commonest (39.54%), followed by allergic skin disorder (29.20%). 25.05% patients were housewives, followed by students (23.21%). Study showed that 33.28% patients had per capita income of ` 361-720/month, and 22.35% patients were educated and/or studied up to class V. Conclusion: Pattern of skin diseases are mostly depend not only on environmental factors but also on occupation, socio-economic status, literacy, and age of the patients. PMID:24700954

  19. Skin Diseases: Questions for Your Health Care Provider

    MedlinePlus

    ... Issue Past Issues Skin Diseases Questions for Your Health Care Provider Past Issues / Fall 2008 Table of Contents ... Sun—Not a good mix / Questions for Your Health Care Provider Fall 2008 Issue: Volume 3 Number 4 ...

  20. Wnt Signaling in Skin Development, Homeostasis, and Disease

    PubMed Central

    Lim, Xinhong; Nusse, Roel

    2013-01-01

    The skin and its appendages constitute the largest organ of the body. Its stratified epithelia offer protection from environmental stresses such as dehydration, irradiation, mechanical trauma, and pathogenic infection, whereas its appendages, like hair and sebaceous glands, help regulate body temperature as well as influence animal interaction and social behavior through camouflage and sexual signaling. To respond to and function effectively in a dynamic external environment, the skin and its appendages possess a remarkable ability to regenerate in a carefully controlled fashion. When this finely tuned homeostatic process is disrupted, skin diseases such as cancers may result. At present, the molecular signals that orchestrate cell proliferation, differentiation, and patterning in the skin remain incompletely understood. It is increasingly apparent that many morphogenetic pathways with key roles in development are also important in regulating skin biology. Of these, Wnt signaling has emerged as the dominant pathway controlling the patterning of skin and influencing the decisions of embryonic and adult stem cells to adopt the various cell lineages of the skin and its appendages, as well as subsequently controlling the function of differentiated skin cells. Here we will review established concepts and present recent advances in our understanding of the diverse roles that Wnt signaling plays in skin development, homeostasis, and disease. PMID:23209129

  1. Mitochondrial dysfunction: a neglected component of skin diseases.

    PubMed

    Feichtinger, René G; Sperl, Wolfgang; Bauer, Johann W; Kofler, Barbara

    2014-09-01

    Aberrant mitochondrial structure and function influence tissue homeostasis and thereby contribute to multiple human disorders and ageing. Ten per cent of patients with primary mitochondrial disorders present skin manifestations that can be categorized into hair abnormalities, rashes, pigmentation abnormalities and acrocyanosis. Less attention has been paid to the fact that several disorders of the skin are linked to alterations of mitochondrial energy metabolism. This review article summarizes the contribution of mitochondrial pathology to both common and rare skin diseases. We explore the intriguing observation that a wide array of skin disorders presents with primary or secondary mitochondrial pathology and that a variety of molecular defects can cause dysfunctional mitochondria. Among them are mutations in mitochondrial- and nuclear DNA-encoded subunits and assembly factors of oxidative phosphorylation (OXPHOS) complexes; mutations in intermediate filament proteins involved in linking, moving and shaping of mitochondria; and disorders of mitochondrial DNA metabolism, fatty acid metabolism and heme synthesis. Thus, we assume that mitochondrial involvement is the rule rather than the exception in skin diseases. We conclude the article by discussing how improving mitochondrial function can be beneficial for aged skin and can be used as an adjunct therapy for certain skin disorders. Consideration of mitochondrial energy metabolism in the skin creates a new perspective for both dermatologists and experts in metabolic disease. PMID:24980550

  2. Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy.

    PubMed

    Odani, Keiko; Okumi, Masayoshi; Honda, Kazuho; Ishida, Hideki; Tanabe, Kazunari

    2016-07-01

    We report a case of kidney transplantation from mother to son, both of whom were likely to have had an unrecognized renal variant phenotype of Fabry disease. The patient was a 54-year-old man, with an unknown primary cause of end stage renal disease. He had no notable past medical history, other than end stage renal disease. He underwent living-related kidney transplantation from his mother at age 40 years. Foam cells in the glomeruli were identified on histology assessment of a 0-hour allograft biopsy, with zebra bodies identified in the glomerular visceral epithelial cells by electron microscopy. These findings were indicative of Fabry disease in the donated kidney. As a definitive diagnosis of Fabry's disease could not be confirmed, enzyme replacement therapy was not initiated. Thirteen years after kidney transplantation, the patient underwent left nephrectomy for a left renal tumour, with pathological findings of clear cell carcinoma, foam cells and zebra bodies in the native kidney. Detailed examinations identified low α-galactosidase A activity and mutation of the α-Gal A gene, confirming a diagnosis of a renal variant phenotype of Fabry disease. Histology of several allograft biopsies performed over the 14 years from the time of kidney transplantation revealed only moderate interstitial fibrosis and tubular atrophy, with no evidence of disease progression on electron microscopy, despite the presence of zebra bodies in the glomerular visceral epithelial cells. PMID:26971403

  3. The role of antimicrobial peptides in chronic inflammatory skin diseases

    PubMed Central

    Majewski, Sławomir

    2016-01-01

    Antimicrobial peptides (AMPs) are effector molecules of the innate immune system of the skin. They present an activity against a broad spectrum of Gram-positive and Gram-negative bacteria as well as some fungi, parasites and enveloped viruses. Several inflammatory skin diseases including psoriasis, atopic dermatitis, acne vulgaris and rosacea are characterized by a dysregulated expression of AMPs. Antimicrobial peptides are excessively produced in lesional psoriatic scales or rosacea in contrast to the atopic skin that shows lower AMP levels when compared with psoriasis. The importance of the AMPs contribution to host immunity is indisputable as alterations in the antimicrobial peptide expression have been associated with various pathologic processes. This review discusses the biology and clinical relevance of antimicrobial peptides expressed in the skin and their role in the pathogenesis of inflammatory skin diseases. PMID:26985172

  4. The role of antimicrobial peptides in chronic inflammatory skin diseases.

    PubMed

    Marcinkiewicz, Małgorzata; Majewski, Sławomir

    2016-02-01

    Antimicrobial peptides (AMPs) are effector molecules of the innate immune system of the skin. They present an activity against a broad spectrum of Gram-positive and Gram-negative bacteria as well as some fungi, parasites and enveloped viruses. Several inflammatory skin diseases including psoriasis, atopic dermatitis, acne vulgaris and rosacea are characterized by a dysregulated expression of AMPs. Antimicrobial peptides are excessively produced in lesional psoriatic scales or rosacea in contrast to the atopic skin that shows lower AMP levels when compared with psoriasis. The importance of the AMPs contribution to host immunity is indisputable as alterations in the antimicrobial peptide expression have been associated with various pathologic processes. This review discusses the biology and clinical relevance of antimicrobial peptides expressed in the skin and their role in the pathogenesis of inflammatory skin diseases. PMID:26985172

  5. Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Münster Study (FaMüS) data

    PubMed Central

    Engelen, Markus A; Brand, Eva; Baumeister, Timo B; Marquardt, T; Duning, Thomas; Osada, Nani; Schaefer, Roland M; Stypmann, Joerg

    2012-01-01

    Objective Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism caused by deficient lysosomal α-galactosidase A activity. Progressive accumulation of globotriaosylceramide and related glycosphingolipids in vascular endothelial lysosomes of the heart, kidneys and brain is responsible for the main disease manifestations. The aim of our study was to assess short-term and long-term effects of enzyme replacement therapy (ERT) on cardiac mass and function. Design Retrospective cohort study. Setting Hospital outpatient clinic. Participants 40 FD patients (21 men, 19 women) receiving agalsidase β-ERT. Outcome measures The focus at baseline and follow-up examinations was on structural, functional (Doppler-echocardiography) as well as electrical changes (ECG) and blood pressure. Results In the Early Group, systolic and diastolic blood pressures significantly decreased. Left-ventricular (LV) also decreased; however, wall thickness and LV mass index showed no further increase. VE as an indicator for diastolic function significantly improved (64±21 vs 75±27 cm/s, p=0.038). There were no significant changes of ECG parameters. There were few relevant changes in the Late Group, albeit systolic blood pressure significantly decreased and QRS duration significantly increased. In conclusion, echocardiographic left-ventricular mass index, interventricular septum thickness, left-ventricular posterior wall, left-ventricular end-diastolic dimension) and diastolic function parameters are valuable for follow-up and guidance of therapy. Conclusions The primary positive impact of ERT appears to be an early effect after the start of therapy, and early initiation of ERT should be recommended. PMID:23175739

  6. The eye and the skin in endocrine metabolic diseases.

    PubMed

    Urrets-Zavalía, Julio A; Espósito, Evangelina; Garay, Iliana; Monti, Rodolfo; Ruiz-Lascano, Alejandro; Correa, Leandro; Serra, Horacio M; Grzybowski, Andrzej

    2016-01-01

    The eye and skin may offer critical clues to the diagnosis of a varied spectrum of metabolic diseases from endocrine origin and their different stages of severity, such as diabetes mellitus and Graves disease. On the other hand, such entities may compromise the eye and visual function severely, and awareness of these possible associations is an important step in their diagnosis and management. A large number of less common endocrine diseases may also have significant ocular/visual or skin involvement. Often the etiologic relationship between the endocrine metabolic disease and the ocular compromise is unknown, but diverse pathogenetic mechanisms may act through a common pathologic pathway producing ocular damage, as occur in diabetic retinopathy. This review emphasizes the ocular and skin manifestations of different metabolic diseases of endocrine origin. PMID:26903183

  7. The global burden of skin disease in 2010: an analysis of the prevalence and impact of skin conditions.

    PubMed

    Hay, Roderick J; Johns, Nicole E; Williams, Hywel C; Bolliger, Ian W; Dellavalle, Robert P; Margolis, David J; Marks, Robin; Naldi, Luigi; Weinstock, Martin A; Wulf, Sarah K; Michaud, Catherine; J L Murray, Christopher; Naghavi, Mohsen

    2014-06-01

    The Global Burden of Disease (GBD) Study 2010 estimated the GBD attributable to 15 categories of skin disease from 1990 to 2010 for 187 countries. For each of the following diseases, we performed systematic literature reviews and analyzed resulting data: eczema, psoriasis, acne vulgaris, pruritus, alopecia areata, decubitus ulcer, urticaria, scabies, fungal skin diseases, impetigo, abscess, and other bacterial skin diseases, cellulitis, viral warts, molluscum contagiosum, and non-melanoma skin cancer. We used disability estimates to determine nonfatal burden. Three skin conditions, fungal skin diseases, other skin and subcutaneous diseases, and acne were in the top 10 most prevalent diseases worldwide in 2010, and eight fell into the top 50; these additional five skin problems were pruritus, eczema, impetigo, scabies, and molluscum contagiosum. Collectively, skin conditions ranged from the 2nd to 11th leading cause of years lived with disability at the country level. At the global level, skin conditions were the fourth leading cause of nonfatal disease burden. Using more data than has been used previously, the burden due to these diseases is enormous in both high- and low-income countries. These results argue strongly to include skin disease prevention and treatment in future global health strategies as a matter of urgency. PMID:24166134

  8. Complement system in dermatological diseases - fire under the skin.

    PubMed

    Panelius, Jaana; Meri, Seppo

    2015-01-01

    The complement system plays a key role in several dermatological diseases. Overactivation, deficiency, or abnormality of the control proteins are often related to a skin disease. Autoimmune mechanisms with autoantibodies and a cytotoxic effect of the complement membrane attack complex on epidermal or vascular cells can cause direct tissue damage and inflammation, e.g., in systemic lupus erythematosus (SLE), phospholipid antibody syndrome, and bullous skin diseases like pemphigoid. By evading complement attack, some microbes like Borrelia spirochetes and staphylococci can persist in the skin and cause prolonged symptoms. In this review, we present the most important skin diseases connected to abnormalities in the function of the complement system. Drugs having an effect on the complement system are also briefly described. On one hand, drugs with free hydroxyl on amino groups (e.g., hydralazine, procainamide) could interact with C4A, C4B, or C3 and cause an SLE-like disease. On the other hand, progress in studies on complement has led to novel anti-complement drugs (recombinant C1-inhibitor and anti-C5 antibody, eculizumab) that could alleviate symptoms in diseases associated with excessive complement activation. The main theme of the manuscript is to show how relevant the complement system is as an immune effector system in contributing to tissue injury and inflammation in a broad range of skin disorders. PMID:25688346

  9. Complement System in Dermatological Diseases – Fire Under the Skin

    PubMed Central

    Panelius, Jaana; Meri, Seppo

    2015-01-01

    The complement system plays a key role in several dermatological diseases. Overactivation, deficiency, or abnormality of the control proteins are often related to a skin disease. Autoimmune mechanisms with autoantibodies and a cytotoxic effect of the complement membrane attack complex on epidermal or vascular cells can cause direct tissue damage and inflammation, e.g., in systemic lupus erythematosus (SLE), phospholipid antibody syndrome, and bullous skin diseases like pemphigoid. By evading complement attack, some microbes like Borrelia spirochetes and staphylococci can persist in the skin and cause prolonged symptoms. In this review, we present the most important skin diseases connected to abnormalities in the function of the complement system. Drugs having an effect on the complement system are also briefly described. On one hand, drugs with free hydroxyl on amino groups (e.g., hydralazine, procainamide) could interact with C4A, C4B, or C3 and cause an SLE-like disease. On the other hand, progress in studies on complement has led to novel anti-complement drugs (recombinant C1-inhibitor and anti-C5 antibody, eculizumab) that could alleviate symptoms in diseases associated with excessive complement activation. The main theme of the manuscript is to show how relevant the complement system is as an immune effector system in contributing to tissue injury and inflammation in a broad range of skin disorders. PMID:25688346

  10. Skin Disease in Laminopathy-Associated Premature Aging.

    PubMed

    McKenna, Tomás; Sola Carvajal, Agustín; Eriksson, Maria

    2015-11-01

    The nuclear lamina, a protein network located under the nuclear membrane, has during the past decade found increasing interest due to its significant involvement in a range of genetic diseases, including the segmental premature aging syndromes Hutchinson-Gilford progeria syndrome, restrictive dermopathy, and atypical Werner syndrome. In this review we examine these diseases, some caused by mutations in the LMNA gene, and their skin disease features. Advances within this area might also provide novel insights into the biology of skin aging, as recent data suggest that low levels of progerin are expressed in unaffected individuals and these levels increase with aging. PMID:26290387

  11. The Diagnostic Value of Skin Disease Diagnosis Expert System

    PubMed Central

    Jeddi, Fatemeh Rangraz; Arabfard, Masoud; Arabkermany, Zahra; Gilasi, Hamidreza

    2016-01-01

    Background: Evaluation is a necessary measure to ensure the effectiveness and efficiency of all systems, including expert systems. The aim of this study was to determine the diagnostic value of expert system for diagnosis of complex skin diseases. Methods: A case-control study was conducted in 2015 to determine the diagnostic value of an expert system. The study population included patients who were referred to Razi Specialized Hospital, affiliated to Tehran University of Medical Sciences. The control group was selected from patients without the selected skin diseases. Data collection tool was a checklist of clinical signs of diseases including pemphigus vulgaris, lichen planus, basal cell carcinoma, melanoma, and scabies. The sample size formula estimated 400 patients with skin diseases selected by experts and 200 patients without the selected skin diseases. Patient selection was undertaken with randomized stratified sampling and their sign and symptoms were logged into the system. Physician’s diagnosis was determined as the gold standard and was compared with the diagnosis of expert system by SPSS software version 16 and STATA. Kappa statistics, indicators of sensitivity, specificity, accuracy and confidence intervals were calculated for each disease. An accuracy of 90% was considered appropriate. Results: Comparing the results of expert system and physician’s diagnosis at the evaluation stage showed an accuracy of 97.1%, sensitivity of 97.5% and specificity of 96.5% The Kappa test indicated a high agreement of 93.6%. Conclusion: The expert system can diagnose complex skin diseases. Development of such systems is recommended to identify all skin diseases. PMID:27046943

  12. Skin testing for allergic diseases: techniques, indications and interpretations.

    PubMed

    Villacorte, G V

    1978-01-01

    Despite significant strides in serologic methodologies, the skin test, when properly done, has remained the single most sensitive and practical assay for specific dermal-bound reaginic antibody. Its value could further be enhanced if and when characterization and standardization of the allergen extracts become a reality. While the technique is simple, the indications and interpretations of allergy skin tests required the expertise of well-trained allergists. A positive skin reaction is no more than a mere supportive laboratory aid in the diagnosis of allergic disease, which is arrived at through a carefully taken detailed history and a meticulously done physical examination. PMID:748833

  13. Ascomycins: promising agents for the treatment of inflammatory skin diseases.

    PubMed

    Paul, C; Graeber, M; Stuetz, A

    2000-01-01

    Ascomycin derivatives represent a novel class of anti-inflammatory macrolactams currently under development for the treatment of skin diseases. The main biological effect of ascomycins is an inhibition of the synthesis of both Th1 and Th2-type cytokines in target cells. Several compounds are being developed with SDZ ASM 981 being at the most advanced stage. It has high anti-inflammatory activity in animal models of skin inflammation and does not induce skin atrophy. Topical application of SDZ ASM 981 was shown to be effective in atopic dermatitis (AD), allergic contact dermatitis and also in psoriasis under semi-occlusive conditions. In patients with AD, SDZ ASM 981 cream led to consistently low systemic exposure even when applied on large areas of skin. SDZ ASM 981 overcomes the drawbacks of current topical therapies of inflammatory skin diseases as its safety profile is better than that of topical corticosteroids. Studies continue to investigate its efficacy and safety in the treatment of inflammatory skin diseases. PMID:11060661

  14. MicroRNAs in Human Diseases: From Autoimmune Diseases to Skin, Psychiatric and Neurodegenerative Diseases

    PubMed Central

    2011-01-01

    MicroRNAs (miRNAs) are small noncoding RNA molecules that negatively regulate gene expression via degradation or translational repression of their target messenger RNAs (mRNAs). Recent studies have clearly demonstrated that miRNAs play critical roles in several biologic processes, including cell cycle, differentiation, cell development, cell growth, and apoptosis and that miRNAs are highly expressed in regulatory T (Treg) cells and a wide range of miRNAs are involved in the regulation of immunity and in the prevention of autoimmunity. It has been increasingly reported that miRNAs are associated with various human diseases like autoimmune disease, skin disease, neurological disease and psychiatric disease. Recently, the identification of mi- RNAs in skin has added a new dimension in the regulatory network and attracted significant interest in this novel layer of gene regulation. Although miRNA research in the field of dermatology is still relatively new, miRNAs have been the subject of much dermatological interest in skin morphogenesis and in regulating angiogenesis. In addition, miRNAs are moving rapidly onto center stage as key regulators of neuronal development and function in addition to important contributions to neurodegenerative disorder. Moreover, there is now compelling evidence that dysregulation of miRNA networks is implicated in the development and onset of human neruodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, Huntington's disease, Tourette's syndrome, Down syndrome, depression and schizophrenia. In this review, I briefly summarize the current studies about the roles of miRNAs in various autoimmune diseases, skin diseases, psychoneurological disorders and mental stress. PMID:22194706

  15. Genetic skin diseases related to desmosomes and corneodesmosomes.

    PubMed

    Ishida-Yamamoto, Akemi; Igawa, Satomi

    2014-05-01

    The integrity of the epidermis depends on the cohesion between keratinocytes, and desmosomes are the main adhesion structures. When cells become cornified, desmosomes are modified and transformed into corneodesmosomes. Mutations in the genes encoding desmosomal components underlie several skin diseases including palmoplantar keratoderma and forms of epidermolysis bullosa, indicating the importance of desmosomes as mechanical stress-bearing structures. Other types of genetic defects in a desmosome component (desmoglein 1), a corneodesmosome component (corneodesmosin), and an inhibitor for proteases involved in corneodesmosome degradation (LEKTI) result in three clinically overlapping conditions: SAM syndrome, an inflammatory type of peeling skin disease, and Netherton syndrome. All three result in allergies to multiple allergens due to severe barrier impairment. Conversely, impaired corneodesmosomal degradation due to matriptase mutations could lead to ichthyosis. By discovering the diverse clinical phenotypes of these diseases, we can enrich our understanding of the multifunctional roles of desmosomes and corneodesmosomes in skin biology. PMID:24636350

  16. Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease.

    PubMed

    Oji, Vinzenz; Eckl, Katja-Martina; Aufenvenne, Karin; Nätebus, Marc; Tarinski, Tatjana; Ackermann, Katharina; Seller, Natalia; Metze, Dieter; Nürnberg, Gudrun; Fölster-Holst, Regina; Schäfer-Korting, Monika; Hausser, Ingrid; Traupe, Heiko; Hennies, Hans Christian

    2010-08-13

    Generalized peeling skin disease is an autosomal-recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the skin. After genome-wide linkage analysis, we have identified a homozygous nonsense mutation in CDSN in a large consanguineous family with generalized peeling skin, pruritus, and food allergies, which leads to a complete loss of corneodesmosin. In contrast to hypotrichosis simplex, which can be associated with specific dominant CDSN mutations, peeling skin disease is characterized by a complete loss of CDSN expression. The skin phenotype is consistent with a recent murine Cdsn knockout model. Using three-dimensional human skin models, we demonstrate that lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases, and we confirm the role of corneodesmosin as a decisive epidermal adhesion molecule. Therefore, peeling skin disease will represent a new model disorder for atopic diseases, similarly to Netherton syndrome and ichthyosis vulgaris in the recent past. PMID:20691404

  17. Variations in plasma and urinary lipids in response to enzyme replacement therapy for Fabry disease patients by nanoflow UPLC-ESI-MS/MS.

    PubMed

    Byeon, Seul Kee; Kim, Jin Yong; Lee, Jin-Sung; Moon, Myeong Hee

    2016-03-01

    A deficiency of α-galactosidase A causes Fabry disease (FD) by disrupting lipid metabolism, especially trihexosylceramide (THC). Enzyme replacement therapy (ERT) is clinically offered to FD patients in an attempt to lower the accumulated lipids. Studies on specific types of lipids that are directly or indirectly altered by FD are very scarce, even though they are crucial in understanding the biological process linked to the pathogenesis of FD. We performed a comprehensive lipid profiling of plasma and urinary lipids from FD patients with nanoflow liquid chromatography electrospray-ionization tandem mass spectrometry (nLC-ESI-MS/MS) and identified 129 plasma and 111 urinary lipids. Among these, lipids that exhibited alternations (>twofold) in patients were selected as targets for selected reaction monitoring (SRM)-based high-speed quantitation using nanoflow ultra-performance LC-ESI-MS/MS (nUPLC-ESI-MS/MS) and 31 plasma and 26 urinary lipids showed significant elevation among FD patients. Higher percentages of sphingolipids (SLs; 48 % for plasma and 42 % for urine) were highly elevated in patients; whereas, a smaller percentage of phospholipids (PLs; 15 % for plasma and 13 % for urine) were significantly affected. Even though α-galactosidase A is reported to affect THC only, the results show that other classes of lipids (especially SLs) are changed as well, indicating that FD not only alters metabolism of THC but various classes of lipids too. Most lipids showing significant increases in relative amounts before ERT decreased after ERT, but overall, ERT influenced plasma lipids more than urinary lipids. Graphical abstract Brief overview of lipidomic analysis for Fabry disease using nLC-ESI-MS/MS and nUPLC-ESI-MS/MS. PMID:26873218

  18. Dolphin pox: a skin disease of cetaceans.

    PubMed Central

    Geraci, J R; Hicks, B D; St Aubin, D J

    1979-01-01

    Poxvirus has been identified morphologically from skin lesions in captive and free-ranging bottlenosed dolphins, Tursiops truncatus and a stranded Atlantic white-sided dolphin, Lagenorhynchus acutus. The lesions, commonly referred to as ring or pinhole lesions, appear as solitary or coalesced circular grey blemishes. Advanced ring lesions may take the form of black punctiform stippled patterns known as "tattoo". Histologically, the stratum externum is thickened, and there is ballooning degeneration and eosinophilic intractyoplasmic inclusions in the stratum intermedium. These includions contain virus particles which exhibit typical poxvirus morphology. Stress, environmental conditions and general health appear to play a major role in the clinical manifestation of dolphin pox. Images Fig. 1. Fig. 2. Fig. 3. Fig. 4. Fig. 5. Fig. 6. Fig. 7. Fig. 8. Fig. 9. PMID:232852

  19. Integrin α3 Mutations with Kidney, Lung, and Skin Disease

    PubMed Central

    Has, Cristina; Spartà, Giuseppina; Kiritsi, Dimitra; Weibel, Lisa; Moeller, Alexander; Vega-Warner, Virginia; Waters, Aoife; He, Yinghong; Anikster, Yair; Esser, Philipp; Straub, Beate K.; Hausser, Ingrid; Bockenhauer, Detlef; Dekel, Benjamin; Hildebrandt, Friedhelm; Bruckner-Tuderman, Leena; Laube, Guido F.

    2012-01-01

    SUMMARY Integrin α3 is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α3 gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis. PMID:22512483

  20. Exposure, skin protection and occupational skin diseases in the glass-fibre-reinforced plastics industry.

    PubMed

    Tarvainen, K; Jolanki, R; Forsman-Grönholm, L; Estlander, T; Pfäffli, P; Juntunen, J; Kanerva, L

    1993-09-01

    A total of 100 workers, 86 from the glass-fibre-reinforced plastics (GRP) industry, 11 from polystyrene production and 3 from polyester resin coating manufacture, were examined for occupational skin hazards and for evaluation of skin protection. The workers had been exposed to many chemicals. Those working in the GRP industry had also been exposed to glass fibre and to dust produced by finishing work. 94% used protective gloves. 22 workers, all employed in the GRP industry, had contracted occupational skin disorders. 6 had allergic and 12 irritant contact dermatitis. 4 workers had an accidental injury caused by a peroxide catalyst, fire, hot air and constant mechanical friction. Allergic dermatoses were due to natural rubber (latex) (4 cases) in protective gloves, phenol-formaldehyde resin (1 case) and cobalt naphthenate (1 case). Irritant hand dermatoses (5 cases) were caused by the combined hazardous effect of unsaturated polyester or vinyl ester resins, organic solvents, glass fibre and dust from finishing work on the skin. Other cases of irritant dermatoses (7 cases) were due to the dust, promoted by mechanical friction of clothes. Skin disorders in the GRP industry were common (26%) but the symptoms were mild and only 3 patients had been on sick leave because of occupational skin disease. PMID:8222622

  1. Animal models of skin disease for drug discovery

    PubMed Central

    Avci, Pinar; Sadasivam, Magesh; Gupta, Asheesh; De Melo, Wanessa CMA; Huang, Ying-Ying; Yin, Rui; Rakkiyappan, Chandran; Kumar, Raj; Otufowora, Ayodeji; Nyame, Theodore; Hamblin, Michael R

    2013-01-01

    Introduction Discovery of novel drugs, treatments, and testing of consumer products in the field of dermatology is a multi-billion dollar business. Due to the distressing nature of many dermatological diseases, and the enormous consumer demand for products to reverse the effects of skin photodamage, aging, and hair loss, this is a very active field. Areas covered In this paper, we will cover the use of animal models that have been reported to recapitulate to a greater or lesser extent the features of human dermatological disease. There has been a remarkable increase in the number and variety of transgenic mouse models in recent years, and the basic strategy for constructing them is outlined. Expert opinion Inflammatory and autoimmune skin diseases are all represented by a range of mouse models both transgenic and normal. Skin cancer is mainly studied in mice and fish. Wound healing is studied in a wider range of animal species, and skin infections such as acne and leprosy also have been studied in animal models. Moving to the more consumer-oriented area of dermatology, there are models for studying the harmful effect of sunlight on the skin, and testing of sunscreens, and several different animal models of hair loss or alopecia. PMID:23293893

  2. Optimisation of the separation of four major neutral glycosphingolipids: application to a rapid and simple detection of urinary globotriaosylceramide in Fabry disease.

    PubMed

    Roy, S; Gaudin, K; Germain, D P; Baillet, A; Prognon, P; Chaminade, P

    2004-06-15

    A simple method for the separation of the four major neutral glycosphingolipids, present in all human tissue, was developed. This gradient normal phase-HPLC method utilises a polyvinyl alcohol bonded stationary phase and an evaporative light-scattering detection (ELSD). Screening pure solvents in a binary gradient elution mode allowed, in a first step, to assess the behaviour of the studied solutes and to select the solvents for further mobile phase optimisation. The proportion of the remaining solvents was defined to reach a maximal resolution. The reduction of the analysis time and the enhancement of the signal were obtained by optimising the gradient slope and the flow-rate. Optimal levels of triethylamine and formic acid (TEA-FA) for the enhancement of the evaporative light scattering detector response were established at 0.1% (v/v). Thus, the optimal conditions for the separation of the four glycosphingolipids was obtained with a gradient elution from a 100% chloroform to a 100% acetone:methanol (90:10 (v/v)) mobile phase at 0.2 ml min-1, using a 10% min-1 gradient slope. Finally, this method was applied to detect the excess of one of the neutral sphingolipids, namely globotriaosylceramide (Gb3) in the urine of patients affected with Fabry disease. A liquid-liquid extraction of the sediments obtained from an aliquot of only ten ml of urine proved sufficient to detect the excess of Gb3 present in both hemizygote and heterozygote patients. In all, the ability of our method to detect abnormal amounts of Gb3 in urinary sediments could allow the diagnosis of weakly symptomatic Fabry patients in large screening programs PMID:15135109

  3. Tungiasis - A Janus-faced parasitic skin disease.

    PubMed

    Feldmeier, Hermann; Keysers, Anne

    2013-01-01

    Tungiasis is a parasitic skin disease caused by the penetration of female sand fleas (Tunga penetrans). It is acquired when people walk barefoot or rest on soil, where sand fleas have completed the off-host cycle. Tungiasis is a classic poverty-associated disease which belongs to the family of neglected tropical diseases (NTD). It has a Janus-face: while in travellers tungiasis usually is a benign self-limiting skin disease, inhabitants of endemic areas suffer from heavy infestations and severe, frequently debilitating and incapacitating morbidity. We describe the epidemiological and clinical characteristics of travel-associated tungiasis and compare these features to the situation in resource-poor communities in South America and sub-Saharan Africa. PMID:24211240

  4. Tropical Skin Diseases in Children: A Review- Part I.

    PubMed

    García-Romero, Maria Teresa; Lara-Corrales, Irene; Kovarik, Carrie L; Pope, Elena; Arenas, Roberto

    2016-05-01

    Because of travel and migration patterns, tropical skin diseases are now seen all around the world, not just in tropical or developing countries. Nutrition, housing, and environmental factors play an important role in these infectious diseases, so when they appear out of their normal environments, their classic presentation may vary. Tropical diseases can also present differently in childhood, making their recognition, diagnosis, and management a clinical challenge. Health care providers in developed countries need to be familiar with tropical skin diseases and be able to diagnose them in returning travelers or immigrants in order to optimize care. This article aims to review the epidemiologic, clinical, diagnostic, and therapeutic aspects of some of the most common tropical dermatologic conditions in children. PMID:27040351

  5. The nature and consequence of Karl Marx's skin disease.

    PubMed

    Shuster, S

    2008-01-01

    From an analysis of the original correspondence, it has been possible to establish that Karl Marx's incapacitating skin disease was hidradenitis suppurativa, not 'boils' as was universally assumed at the time and since; the psychological effect of this illness on the man and his work appears to have been considerable. PMID:17986303

  6. Television depictions about dermatology and skin diseases in Seinfeld.

    PubMed

    Vickers, Jennifer L; Uchida, Tatsuo; Wagner, Richard F

    2010-01-01

    The iconic television situation comedy Seinfeld frequently referenced dermatologists and topics involving the integument, using satire for comedic effect. However, selecting satire to portray an already misunderstood and unknown subject matter may perpetuate incorrect public beliefs and stereotypes about those with skin diseases and diminish cultural sensitivity towards people who have dermatologic conditions and their caregivers. PMID:21199627

  7. Simulation of Skin Diseases for Teaching Dermatological Diagnosis.

    ERIC Educational Resources Information Center

    Short, John M.; Hess, Alan C.

    1980-01-01

    A technique for simulating the papulosquamous skin diseases, using a computer, has been developed and tested with medical students and dermatologists to determine whether this type of simulation is suitable for training students in dermatological diagnosis. The results indicate that it appears to be feasible for training students in differential…

  8. Children with Rare Chronic Skin Diseases: Hemangiomas and Epidermolysis Bullosa.

    ERIC Educational Resources Information Center

    Jones, Sheila Dove; Miller, Cynthia Dieterich

    The paper reports on studies involving children having the rare chronic skin diseases of hemangiomas and epidermolysis bullosa (characterized by easy blistering). One study compared the self-concept and psychosocial development of young (mean age 46 months) children (N=19) with hemangiomas with 19 children without hemangiomas. Findings indicated…

  9. Epidermal RAF prevents allergic skin disease

    PubMed Central

    Raguz, Josipa; Jeric, Ines; Niault, Theodora; Nowacka, Joanna Daniela; Kuzet, Sanya Eduarda; Rupp, Christian; Fischer, Irmgard; Biggi, Silvia; Borsello, Tiziana; Baccarini, Manuela

    2016-01-01

    The RAS pathway is central to epidermal homeostasis, and its activation in tumors or in Rasopathies correlates with hyperproliferation. Downstream of RAS, RAF kinases are actionable targets regulating keratinocyte turnover; however, chemical RAF inhibitors paradoxically activate the pathway, promoting epidermal proliferation. We generated mice with compound epidermis-restricted BRAF/RAF1 ablation. In these animals, transient barrier defects and production of chemokines and Th2-type cytokines by keratinocytes cause a disease akin to human atopic dermatitis, characterized by IgE responses and local and systemic inflammation. Mechanistically, BRAF and RAF1 operate independently to balance MAPK signaling: BRAF promotes ERK activation, while RAF1 dims stress kinase activation. In vivo, JNK inhibition prevents disease onset, while MEK/ERK inhibition in mice lacking epidermal RAF1 phenocopies it. These results support a primary role of keratinocytes in the pathogenesis of atopic dermatitis, and the animals lacking BRAF and RAF1 in the epidermis represent a useful model for this disease. DOI: http://dx.doi.org/10.7554/eLife.14012.001 PMID:27431613

  10. Tropical Skin Diseases in Children: A Review-Part II.

    PubMed

    García-Romero, Maria Teresa; Lara-Corrales, Irene; Kovarik, Carrie L; Pope, Elena; Arenas, Roberto

    2016-05-01

    Tropical skin diseases are infectious conditions influenced by factors such as nutrition, housing, and the environment. Migration patterns have caused these conditions to be seen all around the world, not only in developing countries. Many of these diseases have a different presentation in childhood, which changes the diagnostic approach and management options. In this article, we review some of the most common tropical mycobacterial, protozoan, parasitic, and viral dermatologic conditions in children, including their epidemiologic, clinical, diagnostic, and therapeutic aspects. PMID:27039881

  11. Multidimensional two-photon imaging of diseased skin

    NASA Astrophysics Data System (ADS)

    Cicchi, R.; Sestini, S.; De Giorgi, V.; Massi, D.; Lotti, T.; Pavone, F. S.

    2008-02-01

    We used combined two photon intrinsic fluorescence (TPE), second harmonic generation microscopy (SHG), fluorescence lifetime imaging microscopy (FLIM), and multispectral two photon emission detection (MTPE) to investigate different kinds of human cutaneous ex-vivo skin lesions. Morphological and spectroscopic analyses allowed to characterize both healthy and pathological skin samples, including tumors, as well as to discriminate between healthy and diseased tissue, in a good agreement with common routine histology. In particular, we examined tissue samples from normal and pathological scar tissue (keloid), and skin tumors, including basal cell carcinoma (BCC) and malignant melanoma (MM). By using combined TPE-SHG microscopy we investigated morphological features of different skin regions, as BCC, tumor-stroma interface, healthy dermis, fibroblastic proliferation, and keloids. The SHG to autofluorescence aging index of dermis (SAAID) score was used to characterize each region, finding differences between BCC, healthy skin, tumor-stroma interface, keloids, and fibroblastic proliferation. Further comparative analysis of healthy skin and neoplastic samples was performed using FLIM. In particular, BCC showed a blue-shifted fluorescence emission, a higher absorption at 800 nm excitation wavelength, and a slightly longer mean fluorescence lifetime. MM showed a lifetime distribution similar to the corresponding melanocytic nevus (MN) lifetime distribution for the slow lifetime component, and different for the fast lifetime component.

  12. Skin involvement and outcome measures in systemic autoimmune diseases.

    PubMed

    Albrecht, J; Atzeni, F; Baldini, C; Bombardieri, S; Dalakas, M C; Demirkesen, C; Yazici, H; Mat, C; Werth, V P; Sarzi-Puttini, P

    2006-01-01

    This paper focuses on skin manifestations that can be observed in autoimmune diseases such as rheumatoid arthritis (RA), Sjögren syndrome (SS), dermatomyositis (DM) and Behçet syndrome (BS). In RA the most widely recognized skin lesion is the rheumatoid nodule. Other cutaneous manifestations can be observed either non-specific or related to the disease itself and/or to the commonly used drugs. Cutaneous manifestations are considered one of the most typical extraglandular features of primary SS, generally they are distinguished in vasculitic and non vasculitic lesions. Among non-vasculitc lesions, skin dryness (xerosis) has been shown to be very common in pSS while vasculitis lesions include typically flat and palpable purpura and urticarial vasculits. In DM the skin manifestations are also frequent and include a heliotrope rash (blue-purple discoloration) on the upper eyelids with edema, a flat red rash on the face and upper trunk, and erythema of the knuckles with a raised violaceous scaly eruption (Gottron rash). The most frequent mucocutaneous finding in BS is aphthous stomatitis which can not usually be differentiated from idiopatic reccurrent aphthous stomatitis on clinical grounds. The most typical skin manifestations are nodular lesions, which are commonly seen in BS and may be due to panniculitis [erythema nodosum (EN)-like lesions] or superficial thrombophlebitis. PMID:16466625

  13. Trends in mortality from skin diseases in the United States: skin infectious diseases are claiming more lives.

    PubMed

    Fleischer, Alan B

    2016-01-01

    BackgroundAlthough there has been some excellent work published on the mortality from non-neoplastic skin disease In the United States, further analysis of trends is limited.MethodsData from the Centers for Disease Control and Prevention (CDC) for mortality abstracted from Death Certificates was obtained from the WONDER (wide-ranging online data for epidemiologic research) system from 1999 to 2014. Categorical variables were analyzed with Excel 2013 data analysis software using Chi-squared tests whereas regression was performed for trends.ResultsCrude death rates were highest in the South, especially in Mississippi and Louisiana. This work also confirmed that Blacks or African Americans had higher risk of death from skin disease, whereas Hispanic or Latinos had lower risk. Overall mortality from non-neoplastic diseases is increasing over time and significant increases in mortality from infectious and papulosquamous diseases were observed, whereas there appears to be decreasing mortality from dermatitis and miscellaneous skin disorders (ICD-10-CM L80-90).ConclusionsMortality is increasing from non-neoplastic diseases, especially infectious and papulosquamous diseases. Demographic factors such age race and Hispanic or Latino ethnicity also confer differential risk. PMID:27617717

  14. Skin diseases among elderly inhabitants of Bialystok, Poland

    PubMed Central

    Cybulski, Mateusz; Krajewska-Kulak, Elzbieta

    2015-01-01

    Purpose The aim of the study was to assess the most frequent skin diseases in people over 60 years old among residents of a public nursing home and students of the University of the Third Age in Bialystok. Subjects and methods The study was carried out from April to June 2015 in Bialystok, in two groups: 100 residents of a public nursing home and 100 participants of the University of the Third Age, aged over 60 years, using a method of diagnostic survey with the authors’ anonymous questionnaire. Results A total of 30.5% of respondents (n=61) had been treated due to skin diseases, most frequently for 6–10 years (26.2%). Fungal infection, psoriasis, and atopic dermatitis were the most frequent dermatological diseases among the study elderly. The sites affected most frequently with these diseases were upper and lower extremities and the face. A majority of the examined (63.9%) visited a dermatologist, but only when it was necessary. Conclusion Skin diseases constitute a significant health problem among seniors. The elderly should be educated about healthy lifestyle, preventing the development of fungal infections. It is necessary to encourage seniors to visit dermatologists, seeking professional advice. PMID:26677319

  15. Clinical and parasitological aspects of onchocercal skin diseases in Nigeria.

    PubMed

    Dozie, Ikechukwu N S; Onwuliri, Celestine O E; Nwoke, Bertram E B; Onwuliri, Viola A

    2005-07-01

    An assessment of onchocercal skin disease (OSD) conducted in 38 rural communities in the Imo River Basin, Nigeria, between March 1999 and September 2000, showed that depigmentation (DPM) was the most prevalent lesion in persons with skin microfilariae (mf) (26.3%), followed by chronic papular onchodermatitis (CPOD) (18.1%) and acute papular onchodermatitis (APOD) (15.5%). There was no significant difference (P > 0.05) in sex-related prevalence of OSD. While CPOD, lichenified onchodermatitis (LOD) and DPM were more prevalent in subjects over 30 years old, APOD was associated more with those aged less than 30 years. OSD occurred with concomitant itching in nearly 50% of subjects. The geometric mean intensity of infection was 13 mf/mg per skin snip. PMID:16105335

  16. Skin microbiota: a source of disease or defence?

    PubMed Central

    Cogen, A. L.; Nizet, V.; Gallo, R. L.

    2009-01-01

    Summary Microbes found on the skin are usually regarded as pathogens, potential pathogens or innocuous symbiotic organisms. Advances in microbiology and immunology are revising our understanding of the molecular mechanisms of microbial virulence and the specific events involved in the host–microbe interaction. Current data contradict some historical classifications of cutaneous microbiota and suggest that these organisms may protect the host, defining them not as simple symbiotic microbes but rather as mutualistic. This review will summarize current information on bacterial skin flora including Staphylococcus, Corynebacterium, Propioni-bacterium, Streptococcus and Pseudomonas. Specifically, the review will discuss our current understanding of the cutaneous microbiota as well as shifting paradigms in the interpretation of the roles microbes play in skin health and disease. PMID:18275522

  17. Biologic Therapy in Inflammatory and Immunomediated Skin Diseases: Safety Profile.

    PubMed

    Ganzetti, Giulia; Campanati, Anna; Molinelli, E; Offidani, A

    2016-01-01

    Biologic treatments have modified the therapeutic armamentarium in the treatment of many dermatological and non- dermatological diseases and data on literature have widely focused on the efficacy and safety of TNF-alpha inhibitors in psoriasis. Although the etiopathogenesis has not completely elucidated, inflammation appears the lait motif unifying the immune-pathogenesis of diverse skin disease, as atopic dermatitis, alopecia areata and hidradenitis suppurativa. Actually, data on the off-label use of biologics in cutaneous immune-mediated inflammatory diseases are scarce and restricted to anecdotal cases and case series. The present review aims to evidence the major off- label use of TNF-alpha inhibitors in dermatology. PMID:26463243

  18. Benign skin disease with pustules in the newborn.

    PubMed

    Reginatto, Flávia Pereira; Villa, Damie De; Cestari, Tania Ferreira

    2016-04-01

    The neonatal period comprises the first four weeks of life. It is a period of adaptation where the skin often presents several changes: transient lesions, resulting from a physiological response, others as a consequence of transient diseases and some as markers of severe disorders. The presence of pustules in the skin of the newborn is always a reason for the family and for the assisting doctor to be worried, since the newborn is especially vulnerable to bacterial, viral or fungal infection. However, the majority of neonatal skin pustules is not infectious, comprising the benign neonatal pustulosis. Benign neonatal pustuloses are a group of clinical disease characterized by pustular eruptions in which a contagious agent is not responsible for its etiology. The most common ones are erythema toxicum neonatorum, the transient neonatal pustular melanosis and the benign cephalic pustulosis. These dermatoses are usually benign, asymptomatic and self-limited. It is important that the dermatologist and the neonatologist can identify benign and transient lesions, those caused by genodermatoses, and especially differentiate between neonates with systemic involvement from those with benign skin lesions, avoiding unnecessary diagnostic tests and worries. PMID:27192509

  19. Skin diseases associated with Agent Orange and other organochlorine exposures.

    PubMed

    Patterson, Andrew T; Kaffenberger, Benjamin H; Keller, Richard A; Elston, Dirk M

    2016-01-01

    Organochlorine exposure is an important cause of cutaneous and systemic toxicity. Exposure has been associated with industrial accidents, intentional poisoning, and the use of defoliants, such as Agent Orange in the Vietnam War. Although long-term health effects are systematically reviewed by the Institute of Medicine, skin diseases are not comprehensively assessed. This represents an important practice gap as patients can present with cutaneous findings. This article provides a systematic review of the cutaneous manifestations of known mass organochlorine exposures in military and industrial settings with the goal of providing clinically useful recommendations for dermatologists seeing patients inquiring about organochlorine effects. Patients with a new diagnosis of chloracne, porphyria cutanea tarda, cutaneous lymphomas (non-Hodgkin lymphoma), and soft-tissue sarcomas including dermatofibrosarcoma protuberans and leiomyosarcomas should be screened for a history of Vietnam service or industrial exposure. Inconclusive evidence exists for an increased risk of other skin diseases in Vietnam veterans exposed to Agent Orange including benign fatty tumors, melanomas, nonmelanoma skin cancers, milia, eczema, dyschromias, disturbance of skin sensation, and rashes not otherwise specified. Affected veterans should be informed of the uncertain data in those cases. Referral to Department of Veterans Affairs for disability assessment is indicated for conditions with established associations. PMID:26210237

  20. Benign skin disease with pustules in the newborn*

    PubMed Central

    Reginatto, Flávia Pereira; Villa, Damie De; Cestari, Tania Ferreira

    2016-01-01

    The neonatal period comprises the first four weeks of life. It is a period of adaptation where the skin often presents several changes: transient lesions, resulting from a physiological response, others as a consequence of transient diseases and some as markers of severe disorders. The presence of pustules in the skin of the newborn is always a reason for the family and for the assisting doctor to be worried, since the newborn is especially vulnerable to bacterial, viral or fungal infection. However, the majority of neonatal skin pustules is not infectious, comprising the benign neonatal pustulosis. Benign neonatal pustuloses are a group of clinical disease characterized by pustular eruptions in which a contagious agent is not responsible for its etiology. The most common ones are erythema toxicum neonatorum, the transient neonatal pustular melanosis and the benign cephalic pustulosis. These dermatoses are usually benign, asymptomatic and self-limited. It is important that the dermatologist and the neonatologist can identify benign and transient lesions, those caused by genodermatoses, and especially differentiate between neonates with systemic involvement from those with benign skin lesions, avoiding unnecessary diagnostic tests and worries. PMID:27192509

  1. Marek’s disease virus and skin interactions

    PubMed Central

    2014-01-01

    Marek’s disease virus (MDV) is a highly contagious herpesvirus which induces T-cell lymphoma in the chicken. This virus is still spreading in flocks despite forty years of vaccination, with important economical losses worldwide. The feather follicles, which anchor feathers into the skin and allow their morphogenesis, are considered as the unique source of MDV excretion, causing environmental contamination and disease transmission. Epithelial cells from the feather follicles are the only known cells in which high levels of infectious mature virions have been observed by transmission electron microscopy and from which cell-free infectious virions have been purified. Finally, feathers harvested on animals and dust are today considered excellent materials to monitor vaccination, spread of pathogenic viruses, and environmental contamination. This article reviews the current knowledge on MDV-skin interactions and discusses new approaches that could solve important issues in the future. PMID:24694064

  2. Measurement of the area of involvement in skin disease

    NASA Astrophysics Data System (ADS)

    Roening, Juha; Kontinen, Jukka

    1996-10-01

    The ability to assess the severity of dermatoses by measuring the area of involvement is important in both clinical practice and research, but it has been shown that physicians, nurses and other groups are unable to do this accurately. A common practice in current use is the 'rule of nine' method, but wide variations have been found between observers' estimates. The purpose of this work was to test and demonstrate the feasibility of a computer vision technique for measuring the area of involvement in skin diseases by developing a system for psoriasis area assessment form slides, which can be operated in an image processing environment. The exact percentage of the slide area involved varied from 1 percent to 59 percent, thus providing realistic material for the system. The system proved sufficiently accurate, and the techniques evidently have a potential for inclusion as parts of a more accurate and rapid method for area measurement in the case of skin diseases.

  3. Skin disease and thyroid autoimmunity in atopic South Italian children

    PubMed Central

    Pedullà, Marcella; Fierro, Vincenzo; Marzuillo, Pierluigi; Capuano, Francesco; Miraglia del Giudice, Emanuele; Ruocco, Eleonora

    2016-01-01

    AIM To verify the prevalence of thyroid autoimmunity (TA) and the possible association between atopy and TA in children affected by skin disease. METHODS Three hundred and twenty-four children consecutively referred due to skin disease symptoms to our Pediatric Department were enrolled. One hundred and eighty-seven were diagnosed with atopic dermatitis (AD), 95 with acute urticaria, 40 with chronic urticaria (CU), and 2 with alopecia areata (AA). According to the work-up for atopy, the children were divided into two groups: Atopics and non-atopics. TA was diagnosed by serum thyroid peroxidase autoantibodies and/or thyroglobulin autoantibodies levels more than twice normal values over a period of two months by immunoassay. RESULTS In all children with skin disease, a significant prevalence of TA in atopics compared with non-atopics (13.67% vs 2.67%, P = 0.0016) and a significant association between TA and atopy (OR = 5.76, 95%CI: 1.71-19.35) were observed. These findings were confirmed as significant in children with AD: TA in atopics was 11.5%, while TA in non-atopics was 2.7% (P = 0.03, OR = 4.68, 95%CI: 1.02-21.38). In addition, atopics with CU showed a significantly higher prevalence of TA (26.9%), but none of the non-atopics showed CU (P = 0.0326). On the other hand, atopics with AA showed a 100% (2 out of 2) prevalence of TA, compared with none of the non-atopics. CONCLUSION In children with skin disease, atopy seems to be associated with an increased risk of TA. PMID:27610344

  4. 78 FR 40486 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-05

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; Arthritis and Musculoskeletal and Skin Diseases...

  5. Skin gangrene as an extraintestinal manifestation of inflammatory bowel disease*

    PubMed Central

    Komatsu, Yumi Cristina; Capareli, Gabriela Cunha; Boin, Maria Fernanda Feitosa de Camargo; Lellis, Rute; de Freitas, Thaís Helena Proença; Simone, Karine

    2014-01-01

    Inflammatory bowel diseases can commonly present many cutaneous lesions which can contribute to the diagnosis of the disease or its activity. The most frequent cutaneous or mucocutaneous manifestations suggesting ulcerative rectocolitis activity are erythema nodosum (3-10%), pyoderma gangrenosum (5-12%) and aphthous stomatitis (4%). Other reactive skin manifestations related to immunological mechanisms associated with the inflammatory bowel disease are: Sweet's syndrome, arthritis-dermatitis syndrome associated with inflammatory bowel disease and leukocytoclastic vasculitis. We describe the case of a young man with diagnosis of ulcerative rectocolitis, which presented an extensive cutaneous gangrene secondary to microvascular thrombosis. The case represents a dermatologic rarity and should be recognized as a cutaneous manifestation related to the hypercoagulability state observed in the disease's activity. PMID:25387503

  6. Skin gangrene as an extraintestinal manifestation of inflammatory bowel disease.

    PubMed

    Komatsu, Yumi Cristina; Capareli, Gabriela Cunha; Boin, Maria Fernanda Feitosa de Camargo; Lellis, Rute; Freitas, Thaís Helena Proença de; Simone, Karine

    2014-01-01

    Inflammatory bowel diseases can commonly present many cutaneous lesions which can contribute to the diagnosis of the disease or its activity. The most frequent cutaneous or mucocutaneous manifestations suggesting ulcerative rectocolitis activity are erythema nodosum (3-10%), pyoderma gangrenosum (5-12%) and aphthous stomatitis (4%). Other reactive skin manifestations related to immunological mechanisms associated with the inflammatory bowel disease are: Sweet's syndrome, arthritis-dermatitis syndrome associated with inflammatory bowel disease and leukocytoclastic vasculitis. We describe the case of a young man with diagnosis of ulcerative rectocolitis, which presented an extensive cutaneous gangrene secondary to microvascular thrombosis. The case represents a dermatologic rarity and should be recognized as a cutaneous manifestation related to the hypercoagulability state observed in the disease's activity. PMID:25387503

  7. Serum Biochemistry of Lumpy Skin Disease Virus-Infected Cattle

    PubMed Central

    Avci, Oğuzhan; Doğan, Müge; İnce, Ömer Barış

    2016-01-01

    Lumpy skin disease is an economically important poxvirus disease of cattle. Vaccination is the main method of control but sporadic outbreaks have been reported in Turkey. This study was carried out to determine the changes in serum biochemical values of cattle naturally infected with lumpy skin disease virus (LSDV). For this study, blood samples in EDTA, serum samples, and nodular skin lesions were obtained from clinically infected animals (n = 15) whereas blood samples in EDTA and serum samples were collected from healthy animals (n = 15). A quantitative real-time PCR method was used to detect Capripoxvirus (CaPV) DNA in clinical samples. A real-time PCR high-resolution melt assay was performed to genotype CaPVs. Serum cardiac, hepatic, and renal damage markers and lipid metabolism products were measured by autoanalyzer. LSDV nucleic acid was detected in all samples which were obtained from clinically infected cattle. The results of serum biochemical analysis showed that aspartate aminotransferase, alkaline phosphatase, total protein, and creatinine concentrations were markedly increased in serum from infected animals. However, there were no significant differences in the other biochemical parameters evaluated. The results of the current study suggest that liver and kidney failures occur during LSDV infection. These findings may help in developing effective treatment strategies in LSDV infection. PMID:27294125

  8. Fabry nephropathy: a review - how can we optimize the management of Fabry nephropathy?

    PubMed

    Waldek, Stephen; Feriozzi, Sandro

    2014-01-01

    Fabry disease is a rare, X-linked, lysosomal storage disease caused by mutations in the gene encoding the enzyme alpha-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in many cell types throughout the body, including the kidney. Progressive accumulation of Gb3 in podocytes, epithelial cells and the tubular cells of the distal tubule and loop of Henle contribute to the renal symptoms of Fabry disease, which manifest as proteinuria and reduced glomerular filtration rate leading to chronic kidney disease and progression to end-stage renal disease. Early diagnosis and timely initiation of treatment of Fabry renal disease is an important facet of disease management. Initiating treatment with enzyme replacement therapy (ERT; agalsidase alfa, Replagal®, Shire; agalsidase beta, Fabrazyme®, Genzyme) as part of a comprehensive strategy to prevent complications of the disease, may be beneficial in stabilizing renal function or slowing its decline. Early initiation of ERT may also be more effective than initiating therapy in patients with more advanced disease. Several strategies are required to complement the use of ERT and treat the myriad of associated symptoms and organ involvements. In particular, patients with renal Fabry disease are at risk of cardiovascular events, such as high blood pressure, cardiac arrhythmias and stroke. This review discusses the management of renal involvement in Fabry disease, including diagnosis, treatments, and follow-up, and explores recent advances in the use of biomarkers to assist with diagnosis, monitoring disease progression and response to treatment. PMID:24886109

  9. Evidence of intrauterine transmission of lumpy skin disease virus.

    PubMed

    Rouby, Sherin; Aboulsoud, Emad

    2016-03-01

    The current study describes the clinical, histopathological, molecular and serological diagnosis of lumpy skin disease (LSD) in a premature 1-day old calf that has been delivered from a cow that exhibited signs of LSD during the seventh month of pregnancy. The calf showed generalized skin lesions accompanied with signs of immaturity and died 36 h after birth. Postmortem and histopathological examinations revealed the involvement of multiple tissues. The presence of Neethling virus DNA in tissues was confirmed by polymerase chain reaction (PCR) and gene sequencing. Results of ELISA and serum neutralization test (SNT) confirmed that the calf had developed precolostral serum antibodies to LSD virus indicating in utero virus transmission. All tested sera collected from animals located in the same area were serologically positive, indicating exposure to LSD virus. PMID:26831170

  10. Management of skin disease in patients with lupus erythematosus.

    PubMed

    Callen, Jeffrey P

    2002-04-01

    Skin disease in patients with lupus erythematosus may be subdivided into two broad categories - those represented by a 'specific' histopathology, the interface dermatitis, and those with changes that are not specific to lupus erythematosus, for example, vasculitis, mucin infiltration, etc. The specific skin lesions that are most common are discoid lupus erythematosus (DLE) and subacute cutaneous lupus erythematosus (SCLE). Evaluation will allow the treating physician to assign a prognosis. Cutaneous lesions can generally be managed with standard therapies. Patients with discoid LE and subacute cutaneous LE are generally photosensitive, and therefore sunscreens, protective clothing and behavioural alteration should be discussed with all patients. Topical corticosteroids are a standard form of therapy, but 'newer' agents such as retinoids, calcipotriene and tacrolimus might be effective. Antimalarial agents are generally effective. Attempts to reduce or stop smoking may aid in the control of cutaneous LE. The choice of alternative therapy is personal, and discussions of the risks and benefits should be carefully documented. PMID:12041952

  11. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

    PubMed Central

    Ferreira, Susana; Ortiz, Alberto; Germain, Dominique P.; Viana-Baptista, Miguel; Gomes, António Caldeira; Camprecios, Marta; Fenollar-Cortés, Maria; Gallegos-Villalobos, Ángel; Garcia, Diego; García-Robles, José Antonio; Egido, Jesús; Gutiérrez-Rivas, Eduardo; Herrero, José Antonio; Mas, Sebastián; Oancea, Raluca; Péres, Paloma; Salazar-Martín, Luis Manuel; Solera-Garcia, Jesús; Alves, Helena; Garman, Scott C.; Oliveira, João Paulo

    2015-01-01

    Summary Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with absent or severe enzyme deficiency, as measured by in vitro assays, but patients with higher levels of residual α-Gal activity may have later-onset, more organ-restricted clinical presentations. A change in the codon 118 of the wild-type α-Gal sequence, replacing basic arginine by a potentially sulfhydryl-binding cysteine residue – GLA p.(Arg118Cys) –, has been recurrently described in large FD screening studies of high-risk patients. Although the Cys118 allele is associated with high residual α-Gal activity in vitro, it has been classified as a pathogenic mutation, mainly on the basis of theoretical arguments about the chemistry of the cysteine residue. However its pathogenicity has never been convincingly demonstrated by pathology criteria. We reviewed the clinical, biochemical and histopathology data obtained from 22 individuals of Portuguese and Spanish ancestry carrying the Cys118 allele, including 3 homozygous females. Cases were identified either on the differential diagnosis of possible FD manifestations and on case-finding studies (n=11; 4 males), or on unbiased cascade screening of probands’ close relatives (n=11; 3 males). Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease, since the allelic frequency in stroke patients was 0.0087 (p=0.0185 vs the general population). The Cys118 allelic frequency in healthy Portuguese adults (n=696) has been estimated as 0.001, therefore not qualifying for “rare” condition. PMID:25468652

  12. Drug treatments for skin disease introduced in 2007.

    PubMed

    2008-03-01

    A comprehensive list of drug treatments for skin disease including: Adapalene Gel 0.3% (Differin(R)), Drospirenone/ Ethinyl Estradiol (Yaz(R)), Tretinoin 0.05% Gel (Anthralin(R)), Daptomycin for Injection (CUBICIN(R)), Retapamulin Ointment 1% (Altabax(R)), Tinidazole Tablets (Tindamax(R)), Ciclopirox Topical Solution 8%, Ketoconazole 2% Foam (Extina(R)), Terbinafine Hydrochloride (Lamisil(R)), Desloratadine (Aerius(R)/ Azomyr(R)/ Neoclarityn(R)), Levocetirizine Dihydrochloride (Xyzal(R)), Loratadine Dry Syrup 1% (Claritin(R)) and many other treatments introduced in 2007. PMID:18373042

  13. The Malassezia Genus in Skin and Systemic Diseases

    PubMed Central

    Magiatis, Prokopios; Hantschke, Markus; Bassukas, Ioannis D.; Velegraki, Aristea

    2012-01-01

    Summary: In the last 15 years, the genus Malassezia has been a topic of intense basic research on taxonomy, physiology, biochemistry, ecology, immunology, and metabolomics. Currently, the genus encompasses 14 species. The 1996 revision of the genus resulted in seven accepted taxa: M. furfur, M. pachydermatis, M. sympodialis, M. globosa, M. obtusa, M. restricta, and M. slooffiae. In the last decade, seven new taxa isolated from healthy and lesional human and animal skin have been accepted: M. dermatis, M. japonica, M. yamatoensis, M. nana, M. caprae, M. equina, and M. cuniculi. However, forthcoming multidisciplinary research is expected to show the etiopathological relationships between these new species and skin diseases. Hitherto, basic and clinical research has established etiological links between Malassezia yeasts, pityriasis versicolor, and sepsis of neonates and immunocompromised individuals. Their role in aggravating seborrheic dermatitis, dandruff, folliculitis, and onychomycosis, though often supported by histopathological evidence and favorable antifungal therapeutic outcomes, remains under investigation. A close association between skin and Malassezia IgE binding allergens in atopic eczema has been shown, while laboratory data support a role in psoriasis exacerbations. Finally, metabolomic research resulted in the proposal of a hypothesis on the contribution of Malassezia-synthesized aryl hydrocarbon receptor (AhR) ligands to basal cell carcinoma through UV radiation-induced carcinogenesis. PMID:22232373

  14. The Malassezia genus in skin and systemic diseases.

    PubMed

    Gaitanis, Georgios; Magiatis, Prokopios; Hantschke, Markus; Bassukas, Ioannis D; Velegraki, Aristea

    2012-01-01

    In the last 15 years, the genus Malassezia has been a topic of intense basic research on taxonomy, physiology, biochemistry, ecology, immunology, and metabolomics. Currently, the genus encompasses 14 species. The 1996 revision of the genus resulted in seven accepted taxa: M. furfur, M. pachydermatis, M. sympodialis, M. globosa, M. obtusa, M. restricta, and M. slooffiae. In the last decade, seven new taxa isolated from healthy and lesional human and animal skin have been accepted: M. dermatis, M. japonica, M. yamatoensis, M. nana, M. caprae, M. equina, and M. cuniculi. However, forthcoming multidisciplinary research is expected to show the etiopathological relationships between these new species and skin diseases. Hitherto, basic and clinical research has established etiological links between Malassezia yeasts, pityriasis versicolor, and sepsis of neonates and immunocompromised individuals. Their role in aggravating seborrheic dermatitis, dandruff, folliculitis, and onychomycosis, though often supported by histopathological evidence and favorable antifungal therapeutic outcomes, remains under investigation. A close association between skin and Malassezia IgE binding allergens in atopic eczema has been shown, while laboratory data support a role in psoriasis exacerbations. Finally, metabolomic research resulted in the proposal of a hypothesis on the contribution of Malassezia-synthesized aryl hydrocarbon receptor (AhR) ligands to basal cell carcinoma through UV radiation-induced carcinogenesis. PMID:22232373

  15. 'Perfect skin', the media and patients with skin disease: a qualitative study of patients with acne, psoriasis and atopic eczema.

    PubMed

    Magin, Parker; Adams, Jon; Heading, Gaynor; Pond, Dimity

    2011-01-01

    The relationship of skin disease with societal ideals of beauty, and the role of the media in this relationship, has not previously been researched. The overall objective of this study was to explore the psychological effects of skin disease. The theme of the ideal of perfect skin and the role of the media in generating this ideal arose via an inductive study methodology and was explored in the context of respondents' psychological morbidity. A qualitative study, 62 semi-structured interviews were conducted with respondents with acne, eczema or psoriasis recruited from both general practice and specialist dermatology practice in an Australian regional city. Interviews were audiotaped, transcribed and subjected to thematic analysis employing a process of constant comparison in which data collection and analysis were cumulative and concurrent. The themes of perfect skin, societal ideals and media influence emerged from this iterative process. Respondents identified a societal ideal of flawless skin, largely mediated by media portrayals of perfection. Failure to meet this ideal precipitated psychological morbidity in female, but not male, respondents. An appreciation of the pervasive pressures of society and media upon females with skin disease may inform management strategies, particularly psychological management strategies, in patients with skin disease. PMID:21645475

  16. Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis.

    PubMed

    Wataya-Kaneda, Mari

    2016-01-01

    Sweating is regulated by various neurohormonal mechanisms. A disorder in any part of the sweating regulatory pathways, such as the thermal center, neurotransmitters in the central to peripheral nerve, innervation of periglandular neurotransmission, and sweat secretion in the sweat gland itself, induces dyshidrosis. Therefore, hereditary disorders with dyshidrosis result from a variety of causes. These diseases have characteristic symptoms derived from each pathogenesis besides dyshidrosis. The information in this chapter is useful for the differential diagnosis of representative genetic disorders with dyshidrosis. PMID:27584961

  17. Radiation therapy for Bowen's disease of the skin

    SciTech Connect

    Lukas VanderSpek, Lauren A. . E-mail: lauren.vanderspek@lrcc.on.ca; Pond, Gregory R.; Wells, Woodrow; Tsang, Richard W.

    2005-10-01

    Purpose: To assess the clinical outcome in the radiation therapy (RT) of squamous carcinoma in situ of the skin (Bowen's disease). We focused on the local control rate and the toxicity according to the biologically effective dose (BED). Methods and Materials: A retrospective review was performed on 44 patients with Bowen's disease treated at Princess Margaret Hospital from April 1985 to November 2000. RT was the primary treatment for 32 patients, whereas 12 received RT for residual disease after local ablative therapy. Lesions were located as follows: scalp, 9 patients (20%); face, 12 (27%); trunk, 6 (14%), extremity, 12 (27%), perianal, 3 (7%), and penis, 2 (5%). Orthovoltage X-rays were used in the majority (39 of 44, 89%). There was no standard fractionation regimen: some physicians prescribed high doses, as for invasive skin cancer, whereas others prescribed lower doses because of the noninvasive nature of the disease, a sensitive anatomic location (e.g., extremity), or large treatment area. Because of the variations in fractionation regimens, BED was used as a common metric for biologic effect in the comparison of different regimens and analyzed for correlation with recurrence and toxicity. Local control was defined as the lack of persistent or recurrent disease at the treated site for the follow-up period. Grade 4 toxicity was defined as necrosis (cartilage/bone damage) and/or ulceration for a duration of >3 months. Results: The mean patient age was 67.7 years, and the male/female ratio was 29:15. The median pretreatment lesion size was 2.65 cm{sup 2} (range, 0.07-34.56 cm{sup 2}). Complete remission was achieved in 42 patients, with follow-up unavailable for the remaining 2 patients. Subsequently, 3 patients experienced recurrences at 0.2, 1.1, and 1-1.5 years after complete remission. One recurrence was Bowen's disease (local); the others were squamous cell carcinoma (one local, one marginal). Four patients experienced a new squamous lesion at a distant

  18. 77 FR 28397 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-14

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel, P30 Rheumatic Diseases Core Center Review. Date: June...

  19. Occupational skin diseases: options for multidisciplinary networking in preventive medicine

    PubMed Central

    John, Swen Malte

    2008-01-01

    Occupational dermatoses (OD) have topped the list of occupational diseases in Germany for years. Presently, approximately 16,000 new OD cases are officially reported to public statutory employers’ liability insurance bodies, each year. The disease burden is high not only for individuals but also for society as a whole. Estimated annual economic costs in Germany due to sick-leave and lack of productivity due to OD are more than 1.5 billion euros. Thus, in recent years, various pilot initiatives aiming to improve prevention of occupational skin diseases (of various degrees of severity) have been developed and recently evaluated in Osnabrück. These activities have been funded by statutory employers’ liability insurance schemes. Concepts underpinning these initiatives include multidisciplinary skin protection teaching programs for various high-risk professions, which turned out to be pivotal for the success of these projects. A corollary of this work is a nationwide multi-step intervention approach currently implemented by the public statutory insurance system. This approach offers quick preventive help for all levels of severity of OD. These nation-wide activities are accompanied by a national Prevention Campaign: Skin 2007/2008 (Figure 1 (Fig. 1)), which focuses mainly on primary prevention. Despite the high prevalence of OD and its poor prognosis, little is known about the molecular mechanisms underlying individual susceptibility to develop chronic irritant dermatitis. Skin irritation tests are thus far of only limited value. Presently, our institution, in collaboration with Amsterdam universities, focuses on immunogenetic risk factors potentially involved in individual susceptibility to OD in order to improve pre-employment counseling and predictive skin testing. For early secondary prevention, the so-called dermatologist’s procedure was recently up-dated in order to provide more rapid dermatological consultation. Additionally, combined outpatient

  20. Neutrophilic Skin Lesions in Autoimmune Connective Tissue Diseases

    PubMed Central

    Hau, Estelle; Vignon Pennamen, Marie-Dominique; Battistella, Maxime; Saussine, Anne; Bergis, Maud; Cavelier-Balloy, Benedicte; Janier, Michel; Cordoliani, Florence; Bagot, Martine; Rybojad, Michel; Bouaziz, Jean-David

    2014-01-01

    Abstract The pathophysiology of neutrophilic dermatoses (NDs) and autoimmune connective tissue diseases (AICTDs) is incompletely understood. The association between NDs and AICTDs is rare; recently, however, a distinctive subset of cutaneous lupus erythematosus (LE, the prototypical AICTD) with neutrophilic histological features has been proposed to be included in the spectrum of lupus. The aim of our study was to test the validity of such a classification. We conducted a monocentric retrospective study of 7028 AICTDs patients. Among these 7028 patients, a skin biopsy was performed in 932 cases with mainly neutrophilic infiltrate on histology in 9 cases. Combining our 9 cases and an exhaustive literature review, pyoderma gangrenosum, Sweet syndrome (n = 49), Sweet-like ND (n = 13), neutrophilic urticarial dermatosis (n = 6), palisaded neutrophilic granulomatous dermatitis (n = 12), and histiocytoid neutrophilic dermatitis (n = 2) were likely to occur both in AICTDs and autoinflammatory diseases. Other NDs were specifically encountered in AICTDs: bullous LE (n = 71), amicrobial pustulosis of the folds (n = 28), autoimmunity-related ND (n = 24), ND resembling erythema gyratum repens (n = 1), and neutrophilic annular erythema (n = 1). The improvement of AICTDS neutrophilic lesions under neutrophil targeting therapy suggests possible common physiopathological pathways between NDs and AICTDs. PMID:25546688

  1. Antibody-dependent cellular cytotoxicity and skin disease

    SciTech Connect

    Norris, D.A.; Lee, L.A.

    1985-07-01

    Antibody dependent cellular cytotoxicity (ADCC) is a recently described mechanism of immunologic lysis in which cellular targets sensitized by specific antibodies are efficiently and selectively lysed by Fc receptor (FcR) bearing nonspecific effectors. Immunoglobulins of various classes (IgG, IgM, IgA, IgE) and various cellular effectors (large granular lymphocytes, monocyte/macrophages, T lymphocytes, neutrophils, and eosinophils) can induce ADCC in vitro, and the importance of ADCC in vivo is being tested experimentally in resistance to viral, bacterial, and parasitic infection, in tumor surveillance, in allograft rejection, and in inflammatory diseases. There is much indirect evidence that ADCC may be the mechanism of damage of different cellular targets in skin diseases, but the best direct evidence concerns immunologic keratinocyte damage, especially in cutaneous lupus erythematosus (LE). The authors have shown that keratinocytes of several species are highly susceptible to lymphocyte and monocyte-mediated ADCC, but not to neutrophil or eosinophil ADCC in vitro using two different cytotoxicity assays. In contrast, complement was a relatively ineffective mediator of lysis of metabolically intact keratinocyte targets. Patients with certain cutaneous lupus syndromes have serum antibodies capable of inducing monocyte and lymphocyte ADCC of targets coated with extractable nuclear antigens. The authors have shown that these antigens apparently move to the cell membrane of keratinocytes in vitro following ultraviolet irradiation. In an animal model, they have shown that antibodies to SSA/Ro bind to human keratinocytes in vivo, especially after ultraviolet irradiation.

  2. 75 FR 67989 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-04

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel. Centers of Research Translation Grant Review....

  3. 78 FR 47327 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-05

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  4. 78 FR 17679 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-22

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... Musculoskeletal and Skin Diseases Special Emphasis Panel; NIAMS Clinical Trial Outcome Development. Date: March...

  5. 76 FR 51044 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-17

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  6. 75 FR 14173 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-24

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel; Small Business Research Funding Opportunities....

  7. 75 FR 63492 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-15

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel, Career Development, Research Training & Pathways...

  8. 77 FR 47653 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-09

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  9. 75 FR 28260 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-20

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  10. 77 FR 16246 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-03-20

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases, including consideration of personnel qualifications and performance, and...

  11. 78 FR 18357 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-26

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; NIAMS Loan Repayment Program Review. Date: April...

  12. 78 FR 59945 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-09-30

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel; NIAMS Building Interdisciplinary Research Team...

  13. 77 FR 18253 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-03-27

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel; Clinical Trial Review. Date: April 9, 2012. Time: 2...

  14. 76 FR 77544 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-13

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  15. 75 FR 29770 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-27

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; Career Development, Research Training & Pathways...

  16. 76 FR 1187 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-01-07

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  17. 75 FR 6046 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-05

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel, Ancillary Clinical Studies. Date: February 16,...

  18. 78 FR 70312 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-25

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; Small Business Innovation Research on...

  19. 78 FR 66021 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-04

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; Mentored Career Development, Institutional...

  20. 77 FR 32651 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-01

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel; Program Project Grant Review. Date: June 13, 2012....

  1. 76 FR 40385 - National Institute of Arthritis and Musculoskeletal and Skin Diseases Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-07-08

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases, Special Emphasis Panel, Ancillary Studies to Large Ongoing Clinical...

  2. 77 FR 38847 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-29

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases, Special Emphasis Panel, Small Grant Research Review (R03). Date: July 18,...

  3. 77 FR 75181 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-12-19

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  4. 76 FR 55399 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-07

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases, Special Emphasis Panel, Small Grants Research Review. Date: October 13,...

  5. 78 FR 25753 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-02

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  6. 77 FR 12605 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-03-01

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... invasion of personal privacy. Name of Committee: Arthritis and Musculoskeletal and Skin Diseases...

  7. 75 FR 1792 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-13

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel, Small Research Grants Review. Date: February 4,...

  8. 77 FR 26301 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-03

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  9. Health Care Utilization among Migrant Latino Farmworkers: The Case of Skin Disease

    ERIC Educational Resources Information Center

    Feldman, Steven R.; Vallejos, Quirina M.; Quandt, Sara A.; Fleischer, Alan B., Jr.; Schulz, Mark R.; Verma, Amit; Arcury, Thomas A.

    2009-01-01

    Context: Skin diseases are common occupational illnesses for migrant farmworkers. Farmworkers face many barriers in accessing health care resources. Purpose: Framed by the Health Behavior Model, the purpose of this study was to assess health care utilization for skin disease by migrant Latino farmworkers. Methods: Three hundred and four migrant…

  10. 77 FR 1702 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-01-11

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases, including consideration of personnel qualifications and performance, and...

  11. 75 FR 48979 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-08-12

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as... and Skin Diseases Advisory Council. The meeting will be open to the public as indicated below,...

  12. 77 FR 51544 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-24

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel: Tissue Engineering and Regenerative Medicine....

  13. 77 FR 9671 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-17

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel; Career Development, Research Training & Pathways...

  14. 77 FR 20646 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-04-05

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel, Program Project Grant Review. Date: April 25, 2012....

  15. 75 FR 70679 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-18

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel, Clinical Trials Review. Date: December 2, 2010. Time:...

  16. 77 FR 39714 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-07-05

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases, Special Emphasis Panel, Clinical Trials Applications. Date: July 25, 2012....

  17. 77 FR 66853 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-07

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; Multidisciplinary Clinical Research Centers....

  18. 76 FR 61722 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-10-05

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel, Career Development, Research Training & Pathways...

  19. 78 FR 29144 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-17

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; Ancillary Studies to Large Clinical Projects...

  20. 75 FR 54897 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-09-09

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel; Muscle Physiology Review. Date: September 15, 2010....

  1. 78 FR 9933 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-12

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; Ancillary Studies To Large Clinical Projects...

  2. 76 FR 6806 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-08

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel; Ancillary Studies Grant Review. Date: February 22,...

  3. 76 FR 35225 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-16

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases, Special Emphasis Panel. Clinical Trials Planning Pilot and Research. Date:...

  4. 77 FR 59937 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-10-01

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee... Musculoskeletal and Skin Diseases Special Emphasis Panel; NIAMS Small Grant Program for New Investigators...

  5. 75 FR 26762 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-05-12

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel, Ancillary Clinical Studies Review. Date: June 10,...

  6. 76 FR 31968 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-02

    ... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act... Musculoskeletal and Skin Diseases Special Emphasis Panel; Ancillary Studies to Large Ongoing Clinical...

  7. Evaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease

    PubMed Central

    Goláň, Lubor; Goker-Alpan, Ozlem; Holida, Myrl; Kantola, Ikka; Klopotowski, Mariusz; Kuusisto, Johanna; Linhart, Aleš; Musial, Jacek; Nicholls, Kathleen; Gonzalez-Rodriguez, Derlis; Sharma, Reena; Vujkovac, Bojan; Chang, Peter; Wijatyk, Anna

    2015-01-01

    Purpose Efficacy and safety of agalsidase alfa at 0.2 mg/kg weekly were compared with 0.2 mg/kg every other week (EOW). Exploratory analyses were performed for 0.4 mg/kg weekly. Patients and methods This was a 53-week, Phase III/IV, multicenter, open-label study (NCT01124643) in treatment-naïve adults (≥18 years) with Fabry disease. Inclusion criteria were left ventricular hypertrophy at baseline, defined as left ventricular mass indexed to height >50 g/m2.7 for males and >47 g/m2.7 for females. Primary endpoint was reduction of left ventricular mass indexed to height as assessed by echocardiography. Secondary endpoints included cardiac (peak oxygen consumption, 6-minute walk test, Minnesota Living with Heart Failure Questionnaire, New York Heart Association classification), renal (Modification of Diet in Renal Disease, estimated glomerular filtration rate), and biomarker (plasma globotriaosylceramide) assessments. Safety endpoints were adverse events and anti–agalsidase alfa antibodies. Results Twenty patients were randomized to 0.2 mg/kg EOW (mean age, 50.3 years; 70% male), 19 to 0.2 mg/kg weekly (51.8 years; 53% male), and 5 to 0.4 mg/kg weekly (49.4 years; 40% male). The mean change in left ventricular mass indexed to height by Week 53 in the 0.2-mg/kg EOW and weekly groups was 3.2 g/m2.7 and 0.5 g/m2.7, with no significant difference between groups. No clinically meaningful changes by Week 53 were found within or between the 0.2-mg/kg groups for peak oxygen consumption, 6-minute walk test, or Minnesota Living with Heart Failure Questionnaire. Two patients in each group improved by ≥1 New York Heart Association classification. No significant differences were found between 0.2 mg/kg EOW and weekly for mean change in estimated glomerular filtration rate (−1.21 mL/min/1.73 m2 vs −3.32 mL/min/1.73 m2) or plasma globotriaosylceramide (−1.05 nmol/mL vs −2.13 nmol/mL), respectively. Infusion-related adverse events were experienced by 25% and 21% in the

  8. An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

    PubMed Central

    Goker-Alpan, Ozlem; Longo, Nicola; McDonald, Marie; Shankar, Suma P; Schiffmann, Raphael; Chang, Peter; Shen, Yinghua; Pano, Arian

    2016-01-01

    Background Following a drug manufacturing process change, safety/efficacy of agalsidase alfa were evaluated in enzyme replacement therapy (ERT)-naïve children with Fabry disease. Methods In an open-label, multicenter, Phase II study (HGT-REP-084; Shire), 14 children aged ≥7 years received 0.2 mg/kg agalsidase alfa every other week for 55 weeks. Primary endpoints: safety, changes in autonomic function (2-hour Holter monitoring). Secondary endpoints: estimated glomerular filtration rate, left ventricular mass index (LVMI), midwall fractional shortening, pharmacodynamic parameters, and patient-reported quality-of-life. Results Among five boys (median 10.2 [range 6.7, 14.4] years) and nine girls (14.8 [10.1, 15.9] years), eight patients experienced infusion-related adverse events (vomiting, n=4; nausea, n=3; dyspnea, n=3; chest discomfort, n=2; chills, n=2; dizziness, n=2; headache, n=2). One of these had several hypersensitivity episodes. However, no patient discontinued for safety reasons and no serious adverse events occurred. One boy developed immunoglobulin G (IgG) and neutralizing antidrug antibodies. Overall, no deterioration in cardiac function was observed in seven patients with low/abnormal SDNN (standard deviation of all filtered RR intervals; <100 ms) and no left ventricular hypertrophy: mean (SD) baseline SDNN, 81.6 (20.9) ms; mean (95% confidence interval [CI]) change from baseline to week 55, 17.4 (2.9, 31.9) ms. Changes in SDNN correlated with changes in LVMI (r=−0.975). No change occurred in secondary efficacy endpoints: mean (95% CI) change from baseline at week 55 in LVMI, 0.16 (−3.3, 3.7) g/m2.7; midwall fractional shortening, −0.62% (−2.7%, 1.5%); estimated glomerular filtration rate, 0.15 (−11.4, 11.7) mL/min/1.73 m2; urine protein, −1.8 (−6.0, 2.4) mg/dL; urine microalbumin, 0.6 (−0.5, 1.7) mg/dL; plasma globotriaosylceramide (Gb3), −5.71 (−10.8, −0.6) nmol/mL; urinary Gb3, −1,403.3 (−3,714.0, 907.4) nmol/g creatinine

  9. The skin microbiome: potential for novel diagnostic and therapeutic approaches to cutaneous disease

    PubMed Central

    Grice, Elizabeth A.

    2015-01-01

    A vast diversity of microorganisms, including bacteria, fungi, viruses, and arthropods, colonize the human skin. Culture-independent genomic approaches for identifying and characterizing microbial communities have provided glimpses into the topographical, temporal, and interpersonal complexity that defines the skin microbiome. Identification of changes associated with cutaneous disease, including acne, atopic dermatitis, rosacea, and psoriasis, are being established. In this review, our current knowledge of the skin microbiome in health and disease is discussed, with particular attention to potential opportunities to leverage the skin microbiome as a diagnostic, prognostic, and/or therapeutic tool. PMID:25085669

  10. Bullous pemphigoid-like skin blistering disease in a rhesus macaque (Macaca mulatta).

    PubMed

    Kim, Jong-Min; Kim, Hyun-Je; Min, Byoung-Hoon; Shin, Jun-Seop; Jeong, Won Young; Lee, Ga Eul; Kim, Min Sun; Kim, Ju Eun; Park, Chung-Gyu

    2016-08-01

    Autoimmune bullous disease is very uncommon in non-human primates. We observed a bullous skin disease in a male rhesus monkey while conducting porcine islet xenotransplantation. Fifty days after the transplantation, multiple bullous skin lesions were observed. There was no mucosal involvement. Skin biopsy results demonstrated a subepidermal blister with no necrotic keratinocytes. Immunofluorescent staining showed linear IgG deposition at the roof of the blister. These skin lesions spontaneously disappeared. Considering these results, this monkey was diagnosed with bullous pemphigoid (BP). As far as we know, this is the first report of BP in non-human primates. PMID:27373989

  11. The use of reflectance confocal microscopy in selected inflammatory skin diseases.

    PubMed

    Białek-Galas, Kamila; Wielowieyska-Szybińska, Dorota; Dyduch, Grzegorz; Wojas-Pelc, Anna

    2015-06-01

    Reflectance confocal microscopy is a modern, non-invasive diagnostic method that enables real-time imaging of the epidermis and upper layers of the dermis with nearly histological precision and high contrast. The application of this technology to skin imaging during the last years has resulted in progress of dermatological diagnosis, providing virtual access to living skin, without the need for conventional histopathology. The presented method potentially has broad application in the diagnosis of skin diseases. This article provides a summary of the latest reports and previous achievements in the field of reflectance confocal microscopy. General characteristics of confocal images in selected inflammatory skin diseases are presented. PMID:26247522

  12. Seminal transmission of lumpy skin disease virus in heifers.

    PubMed

    Annandale, C H; Holm, D E; Ebersohn, K; Venter, E H

    2014-10-01

    It is known that lumpy skin disease virus (LSDV) can be shed in bull semen following infection and also that artificial insemination (AI) poses a biosecurity risk. However, it is not known whether the use of LSDV infected semen in AI poses a biosecurity risk. The aim of this study was to investigate whether LSDV, transmitted through semen, can infect cows and their embryos. Two controlled trials were performed simultaneously. Eleven young beef heifers, naïve to LSDV, were synchronized using an OvSynch protocol and inseminated on Day 0 with fresh semen spiked with a field strain of LSDV on day 0. Six of the heifers were superovulated on Day 1 using pregnant mare serum gonadotropin, and embryos were flushed from these heifers on Day 6. Blood and serum samples were collected from Day 4 until Day 27 to determine the presence of LSDV by PCR and virus isolation, and the presence of antibodies against LSDV by SNT. The first clinical signs of LSD were noticed on Day 10, followed by severe generalized LSD in three heifers and mild LSD in two more heifers. Two heifers were humanely euthanized due to severe unresponsive stranguria. LSDV was detected by PCR, virus isolation or electron microscopy in blood, embryos and organs of experimentally infected animals; and eight heifers had seroconverted by Day 27. Two control animals were not affected. This is the first report of experimental seminal transmission of LSDV in cattle. PMID:23289592

  13. Skin as a potential source of infectious foot and mouth disease aerosols

    PubMed Central

    Dillon, Michael B.

    2011-01-01

    This review examines whether exfoliated, virus-infected animal skin cells could be an important source of infectious foot and mouth disease virus (FMDV) aerosols. Infectious material rafting on skin cell aerosols is an established means of transmitting other diseases. The evidence for a similar mechanism for FMDV is: (i) FMDV is trophic for animal skin and FMDV epidermis titres are high, even in macroscopically normal skin; (ii) estimates for FMDV skin cell aerosol emissions appear consistent with measured aerosol emission rates and are orders of magnitude larger than the minimum infectious dose; (iii) the timing of infectious FMDV aerosol emissions is consistent with the timing of high FMDV skin concentrations; (iv) measured FMDV aerosol sizes are consistent with skin cell aerosols; and (v) FMDV stability in natural aerosols is consistent with that expected for skin cell aerosols. While these findings support the hypothesis, this review is insufficient, in and of itself, to prove the hypothesis and specific follow-on experiments are proposed. If this hypothesis is validated, (i) new FMDV detection, management and decontamination approaches could be developed and (ii) the relevance of skin cells to the spread of viral disease may need to be reassessed as skin cells may protect viruses against otherwise adverse environmental conditions. PMID:21450741

  14. Skin disease in pregnancy: The approach of the obstetric medicine physician.

    PubMed

    Mehta, Niharika; Chen, Kenneth K; Kroumpouzos, George

    2016-01-01

    This review presents the approach of the obstetric medicine physician to skin disease in pregnancy. It elaborates on common skin-related problems during gestation, such as pruritus, with or without eruption, and drug eruptions. An algorithmic approach to the differential diagnosis of pruritus in pregnancy is outlined. Also, the review focuses on how to diagnose promptly endocrinopathies presenting with skin manifestations in pregnancy, such as Addison disease, diabetes, and hyperthyroidism. The prompt diagnosis of endocrine disorders can help to optimize management and improve outcomes. Finally, the authors outline their approach to minimizing maternal and fetal risks associated with skin disease. The risks associated with obstetric cholestasis, pemphigoid gestationis, and impetigo herpetiformis are discussed. Prompt diagnosis helps to minimize the serious risks associated with certain infections. Preconception counseling and a multidisciplinary approach are crucial to preventing risks associated with rheumatic skin disease and genodermatoses. Challenging, real-life obstetric medicine cases are discussed. PMID:27265069

  15. Yeasts in a hospital for patients with skin diseases

    PubMed Central

    Somerville, Dorothy A.

    1972-01-01

    The incidence and acquisition of Candida albicans and other yeasts in two wards of a skin hospital is described. Carriage rates on the skin in hospital patients is higher than is generally supposed, and cutaneous sites may act as sources of infection with these organisms. PMID:4567312

  16. Redox Imbalance in T Cell-Mediated Skin Diseases

    PubMed Central

    Pastore, Saveria; Korkina, Liudmila

    2010-01-01

    The skin is permanently exposed to physical, chemical, and biological aggression by the environment. In addition, acute and chronic inflammatory events taking place in the skin are accompanied by abnormal release of pro-oxidative mediators. In this paper, we will briefly overview the homeostatic systems active in the skin to maintain the redox balance and also to counteract abnormal oxidative stress. We will concentrate on the evidence that a local and/or systemic redox dysregulation accompanies the chronic inflammatory disorder events associated to psoriasis, contact dermatitis, and atopic dermatitis. We will also discuss the fact that several well-established treatments for the therapy of chronic inflammatory skin disorders are based on the application of strong physical or chemical oxidants onto the skin, indicating that, in selected conditions, a further increase of the oxidative imbalance may lead to a beneficial outcome. PMID:20847812

  17. New experimental models of skin homeostasis and diseases.

    PubMed

    Larcher, F; Espada, J; Díaz-Ley, B; Jaén, P; Juarranz, A; Quintanilla, M

    2015-01-01

    Homeostasis, whose regulation at the molecular level is still poorly understood, is intimately related to the functions of epidermal stem cells. Five research groups have been brought together to work on new in vitro and in vivo skin models through the SkinModel-CM program, under the auspices of the Spanish Autonomous Community of Madrid. This project aims to analyze the functions of DNA methyltransferase 1, endoglin, and podoplanin in epidermal stem cell activity, homeostasis, and skin cancer. These new models include 3-dimensional organotypic cultures, immunodeficient skin-humanized mice, and genetically modified mice. Another aim of the program is to use skin-humanized mice to model dermatoses such as Gorlin syndrome and xeroderma pigmentosum in order to optimize new protocols for photodynamic therapy. PMID:24878038

  18. Differential Features between Chronic Skin Inflammatory Diseases Revealed in Skin-Humanized Psoriasis and Atopic Dermatitis Mouse Models.

    PubMed

    Carretero, Marta; Guerrero-Aspizua, Sara; Illera, Nuria; Galvez, Victoria; Navarro, Manuel; García-García, Francisco; Dopazo, Joaquin; Jorcano, Jose Luis; Larcher, Fernando; del Rio, Marcela

    2016-01-01

    Psoriasis and atopic dermatitis are chronic and relapsing inflammatory diseases of the skin affecting a large number of patients worldwide. Psoriasis is characterized by a T helper type 1 and/or T helper type 17 immunological response, whereas acute atopic dermatitis lesions exhibit T helper type 2-dominant inflammation. Current single gene and signaling pathways-based models of inflammatory skin diseases are incomplete. Previous work allowed us to model psoriasis in skin-humanized mice through proper combinations of inflammatory cell components and disruption of barrier function. Herein, we describe and characterize an animal model for atopic dermatitis using similar bioengineered-based approaches, by intradermal injection of human T helper type 2 lymphocytes in regenerated human skin after partial removal of stratum corneum. In this work, we have extensively compared this model with the previous and an improved version of the psoriasis model, in which T helper type 1 and/or T helper type 17 lymphocytes replace exogenous cytokines. Comparative expression analyses revealed marked differences in specific epidermal proliferation and differentiation markers and immune-related molecules, including antimicrobial peptides. Likewise, the composition of the dermal inflammatory infiltrate presented important differences. The availability of accurate and reliable animal models for these diseases will contribute to the understanding of the pathogenesis and provide valuable tools for drug development and testing. PMID:26763433

  19. Ethnomedicinal plants used in the treatment of skin diseases in Hyderabad Karnataka region, Karnataka, India

    PubMed Central

    Policepatel, Shivakumar Singh; Manikrao, Vidyasagar Gunagambhire

    2013-01-01

    Objective To document traditional medicinal plants knowledge used in treating skin diseases at Hyderabad Karnataka Region. Methods The information on the use of medicinal plants in the treatment of skin diseases was gathered from traditional herbal healers and other villagers through interviews. Results A total of 60 plants species belonging to 57 genera and 34 families were found useful and herewith described them along with the method of drug preparation, mode of administration, probable dosage and duration of treatment. Several new findings on the traditional rural practices were reported. Conclusions The present study revealed that the Hyderabad Karnataka rural people is primarily dependent on medicinal plants for treating skin diseases.

  20. Discovery in Genetic Skin Disease: The Impact of High Throughput Genetic Technologies

    PubMed Central

    Maruthappu, Thiviyani; Scott, Claire A.; Kelsell, David P.

    2014-01-01

    The last decade has seen considerable advances in our understanding of the genetic basis of skin disease, as a consequence of high throughput sequencing technologies including next generation sequencing and whole exome sequencing. We have now determined the genes underlying several monogenic diseases, such as harlequin ichthyosis, Olmsted syndrome, and exfoliative ichthyosis, which have provided unique insights into the structure and function of the skin. In addition, through genome wide association studies we now have an understanding of how low penetrance variants contribute to inflammatory skin diseases such as psoriasis vulgaris and atopic dermatitis, and how they contribute to underlying pathophysiological disease processes. In this review we discuss strategies used to unravel the genes underlying both monogenic and complex trait skin diseases in the last 10 years and the implications on mechanistic studies, diagnostics, and therapeutics. PMID:25093584

  1. Skin microbiota: Microbial community structure and its potential association with health and disease

    PubMed Central

    Rosenthal, Mariana; Goldberg, Deborah; Aiello, Allison; Larson, Elaine; Foxman, Betsy

    2011-01-01

    Skin, the largest human organ, is a complex and dynamic ecosystem inhabited by a multitude of microorganisms. Host demographics and genetics, human behavior, local and regional environmental characteristics, and transmission events may all potentially drive human skin microbiota variability, resulting in an alteration of microbial community structure. This alteration may have important consequences regarding health and disease outcomes among individuals. More specifically, certain diversity patterns of human microbiota may be predictive or diagnostic of disease. The purpose of this review is to briefly describe the skin microbiota, outline the potential determining factors driving its variability, posit the likelihood of an association between the resulting microbial community structure on the skin with disease outcomes among individuals, and finally, to present some challenges and implications for studying the skin microbiota. PMID:21463709

  2. Impaired sympathetic skin response in chronic obstructive pulmonary disease.

    PubMed

    Bir, Levent Sinan; Ozkurt, Sibel; Daloğlu, Güner; Kurt, Tülay

    2005-12-01

    The sympathetic skin response (SSR) is considered as one of the indexes of autonomic nervous system functions, especially related with the sudomotor function of unmyelinated sympathetic fibers. SSRs are recorded as the potentials with biphasic or multiphasic waveforms by conventional electromyography. SSRs are evaluated by measuring latency (time from the stimulus to the onset), amplitude, and area (the space under the curve of the waveform). Although dysautonomia is a feature of chronic obstructive pulmonary disease (COPD), as demonstrated by acetylcholine sweat-spot test, there are no data concerning SSR in COPD patients. In this study, we electrophysiologically investigated the sudomotor function of the sympathetic nervous system in patients with COPD. SSRs were recorded in 30 patients with COPD and 21 healthy volunteers. Normal responses were obtained from all subjects in the control group. No response was observed in three patients with COPD. The mean latency, amplitude and area values of the potentials recorded of the remaining 27 patients were compared to the control. The mean latency was longer (p<0.01) and the mean amplitude and area values were lower (p=0.012, p=0.021, respectively) in the patients compared to the control. We also demonstrated significant correlations between the latency, amplitude, or area values of the SSR and two parameters of pulmonary function tests forced expiratory volume one second/forced vital capacity (FEV1/FVC) and FEV1/FVC %. In conclusion, SSR is impaired in patients with COPD, which indicates the dysfunction of the sympathetic nervous system. Furthermore, the degree of impairment in SSR may reflect the severity of airway obstruction in patients with COPD. PMID:16272793

  3. 77 FR 61011 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

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  18. Sex differences in the incidence of skin and skin-related diseases in Olmsted County, Minnesota, United States, and a comparison with other rates published worldwide.

    PubMed

    Andersen, Louise K; Davis, Mark D P

    2016-09-01

    Many skin and skin-related diseases affect the sexes unequally, with attendant implications for public health and resource allocation. To evaluate better the incidence of skin and skin-related diseases affecting males vs. females, we reviewed published population-based epidemiology studies of skin disorders performed utilizing Rochester Epidemiology Project data. Females had a higher incidence of the following diseases: connective tissue diseases (scleroderma, morphea, dermatomyositis, primary Sjögren syndrome, systemic lupus erythematosus [not in all studies]), pityriasis rosea, herpes progenitalis, condyloma acuminatum, hidradenitis suppurativa, herpes zoster (except in children), erythromelalgia, venous stasis syndrome, and venous ulcers. Males had a higher incidence of psoriasis and psoriatic arthritis, basal cell carcinoma (exception, females aged ≤40 years), squamous cell carcinoma, and lentigo maligna. Incidence rates were equal in males and females for cutaneous malignant melanoma (exception, higher in females aged 18-39 years), lower-extremity cellulitis, cutaneous nontuberculous mycobacterial infection, Behçet disease, delusional infestation, alopecia areata, and bullous pemphigoid. Many of the population-based sex-specific incidence rates of skin and skin-related diseases derived from the Rochester Epidemiology Project are strikingly different from those estimated elsewhere. In general, females are more commonly affected by skin and skin-related diseases. The reasons for this imbalance remain to be determined and are likely multifactorial. PMID:27009931

  19. AB171. RNA alternative splicing modulator can effectively increase lymphoblast enzyme activity in patients with cardiac fabry disease caused by IVS4+919G >A mutation

    PubMed Central

    Lu, Yung-Hsiu; Li, Cheng-Fang; Huang, Chun-Kai; Lin, Yu-Ting; Hsu, Ting-Rong; Niu, Dau-Ming

    2015-01-01

    Background In Taiwan, DNA-based newborn screening showed a surprisingly high incidence (1/875 in males and 1/399 in females) of a cardiac fabry mutation (IVS4 + 919G >A). The common cardiac variant fabry mutation, IVS4+919G >A, affects the splicing of GLA RNA by introducing a 57-nucleotide insertion between exons 4 and 5 that contains a stop codon and leads to a truncated protein and inactive enzyme. And this mutation affected males have up to 10% residual enzyme activity and present clinically with late-onset hypertrophic cardiomyopathy. Due to the high cost of enzyme replacement therapy and the large number of patients with this mutation, the development of alternative therapies is essential. Several low-molecular-mass compounds, such as histone deacetylase inhibitors or kinase/phosphatase inhibitors, have been identified as modulators of alternative splicing. It may offer a potential alternative to enzyme replacement therapy. We expect to find out a more economic and effective drug by the detailed study of the mechanism of the small molecule modulators on the IVS4+919G >A mutation for the greater benefits of patients with this mutation. Methods In this study, we used to generate Epstein-Barr virus-transformed lymphoblast cell lines and incubated with different concentrations of three HDIs (sodium butyrate, valproic acid, and trichostatin A) and Amiloride hydrochloride (Amiloride HCl). To identify the respond of these compound, we were monitored the relative amounts of normal and aberrant splice forms by quantitative real-time polymerase chain reaction, the relative amounts of the normal and truncated α-Gal A protein products were analyzed by Western blotting and enzyme activities. Results Western blotting revealed those females heterozygous for the IVS4+919G >A mutation had approximately 50% of the normal level of α-Gal A protein, whereas hemizygous males had approximately 10% of the normal level. The three HDIs were all found to rescue the aberrant RNA

  20. Lumpy Skin Disease in Jordan: Disease Emergence, Clinical Signs, Complications and Preliminary-associated Economic Losses.

    PubMed

    Abutarbush, S M; Ababneh, M M; Al Zoubi, I G; Al Sheyab, O M; Al Zoubi, M G; Alekish, M O; Al Gharabat, R J

    2015-10-01

    The objectives of this study are to report the emergence of lumpy skin disease (LSD) in Jordan and associated clinical signs, complications and preliminary economic losses. In mid-April, 2013, two adult dairy cattle developed clinical signs suggestive of LSD and were confirmed as positive by PCR. The two cases were in Bani Kenanah district, Irbid governorate, on the Jordanian border of Israel and Syria. The disease spread rapidly to all the districts of Irbid governorate. During the month following the emergence of the disease, data were collected related to the epidemiology of the disease and the numbers of affected cattle on the premises. Forty-one dairy cattle holdings were surveyed. The morbidity rate ranged from 3% to 100%, (Mean = 35.1%, SD ±28.5%). The mortality rate ranged from 0% to 20%, (Mean = 1.3%, SD ±4.4%). The case fatality rate ranged from 0% to 100%, (Mean = 6.2%, SD ±22%). The overall morbidity rate was 26%, mortality rate 1.9% and case fatality rate 7.5%. Skin nodules, anorexia, decreased milk production and decreased body weight were common clinical signs, while mastitis and myiasis were seen as complications in a few affected animals. Decreased body weight ranged from 0% to 80%, (Mean = 23.1%, SD ±15.7%). Decreased milk production ranged from 0% to 100%, (Mean = 51.5%, SD ±22.2%). Affected cattle were treated mainly with broad-spectrum antibiotics and anti-inflammatory drugs. The cost of treatment ranged from 0 to 84.3 British Pound/animal, (Mean = 27.9 GBP, SD ±22.5 GBP). LSD continues to spread through the Middle East region and poses a serious threat to the rest of Asia and Europe. International collaboration and communication is warranted to prevent the further spread of the disease to the rest of Asia and Europe. PMID:24148185

  1. Infliximab-induced skin manifestations in patients with inflammatory bowel disease.

    PubMed

    Eligius Hellström, Alec; Färkkilä, Martti; Kolho, Kaija-Leena

    2016-05-01

    Objective The use of infliximab in rheumatoid and inflammatory bowel diseases (IBD) has been associated with a variety of adverse skin reactions, including paradoxical psoriatic lesions. The prevalence and possible predictors for these lesions were under observation in our cross-sectional prospective study. Material and methods Nurses screened the skin of 118 adult patients with IBD during infliximab infusions between 4 September 2013 and 30 September 2014 based on the structured questionnaire. Data on skin manifestations, concomitant medications, extraintestinal manifestations and inflammatory markers were collected for analysis. Results Non-infectious skin manifestations were observed in 27 (22.9%) patients during the study period, of which eight (29.6%) were new-onset, eight (29.6%) were exacerbations of existing lesions and 11 (40.7%) were baseline lesions that did not worsen during the study. Scaling eczema was the most commonly described skin manifestation (n = 8; 29.6%), followed by exacerbated atopic eczema (n = 5; 18.5%) and plausible infliximab-induced psoriasiform lesions (n = 5; 18.5%). The strongest associating factor for skin manifestations was Crohn's disease, in nearly 80% of afflicted patients. Conclusions Anti-TNF-α therapy is frequently associated with newly onset skin reactions, most commonly in patients with Crohn's disease. Non-infectious skin manifestations can be treated topically and do not require cessation of anti-TNF-α therapy. PMID:26728295

  2. Sequence analysis of attachment gene of lumpy skin disease and sheep poxviruses.

    PubMed

    El-Kenawy, A A; El-Tholoth, M S

    2010-12-01

    In Egypt, protection of cattle against lumpy skin disease (LSD) was carried out using a sheep poxvirus (Kenyan strain) vaccination strategy. In the present study 15 skin nodules from LSD suspected cows and 5 scab samples from sheep pox (SP) suspected sheep were collected. Hyperimmune rabbit sera to Lumpy skin disease virus (LSDV)/Ismailyia88 strain and sheep pox virus (SPV)/ Kenyan vaccinal strain were prepared. The causative agent in the collected samples was identified using immunoflourescence (IF) and immunoperoxidase techniques. Of the 15 skin nodules suspected of LSD, 10 showed a positive reaction and 3 out of 5 skin scabs suspected of sheeppox were found to be positive. An antigenic correlation between field skin isolate of LSDV, tissue culture adapted LSDV/Ismailyia88 strain, field skin isolate of SPV and SPV/Kenyan vaccinal strain was studied using prepared hyperimmune sera. Also, nucleotide sequence of the PCR amplified attachment gene fragments of field skin isolate of LSDV, tissue culture adapted LSDV/Ismailyia88 strain, field skin isolate of SPV and SPV /Kenyan vaccinal strain were compared. The results revealed that the four used viruses were antigenically identical. Sequence analysis indicated that field skin LSDV isolate is more related to tissue culture adapted LSDV/Ismailyia88 strain than to vaccinal SPV/ Kenyan strain and the skin isolate of SPV is more closely related to field skin isolate of LSDV than to SPV/Kenyan vaccinal strain. Thus, further study should be applied on the advantage of a LSD vaccine prepared from LSDV in protection of cattle against LSD compared to the commonly used sheep pox vaccine. PMID:21221919

  3. Natural ingredients in atopic dermatitis and other inflammatory skin disease.

    PubMed

    Dohil, Magdalene A

    2013-09-01

    Active naturals in dermatology have been experiencing a renaissance. Many of the naturals that have been known for centuries to be effective for various skin conditions have now been scientifically validated with the unraveling of the pathophysiology behind their medicinal mechanism. This article seeks to present data on the clinical use of key dermatological active naturals such as oatmeal, feverfew, chamomile, aloe vera, licorice, and dexpanthenol, as well as on recent multicenter and international clinical studies that support their efficacy and safety profile for a variety of inflammatory skin conditions. PMID:24002161

  4. Ambient humidity and the skin: the impact of air humidity in healthy and diseased states.

    PubMed

    Goad, N; Gawkrodger, D J

    2016-08-01

    Humidity, along with other climatic factors such as temperature and ultraviolet radiation, can have an important impact on the skin. Limited data suggest that external humidity influences the water content of the stratum corneum. An online literature search was conducted through Pub-Med using combinations of the following keywords: skin, skin disease, humidity, dermatoses, dermatitis, eczema, and mist. Publications included in this review were limited to (i) studies in humans or animals, (ii) publications showing relevance to the field of dermatology, (iii) studies published in English and (iv) publications discussing humidity as an independent influence on skin function. Studies examining environmental factors as composite influences on skin health are only included where the impact of humidity on the skin is also explored in isolation of other environmental factors. A formal systematic review was not feasible for this topic due to the heterogeneity of the available research. Epidemiological studies indicated an increase in eczema with low internal (indoors) humidity and an increase in eczema with external high humidity. Other studies suggest that symptoms of dry skin appear with low humidity internal air-conditioned environments. Murine studies determined that low humidity caused a number of changes in the skin, including the impairment of the desquamation process. Studies in humans demonstrated a reduction in transepidermal water loss (TEWL) (a measure of the integrity of the skin's barrier function) with low humidity, alterations in the water content in the stratum corneum, decreased skin elasticity and increased roughness. Intervention with a humidifying mist increased the water content of the stratum corneum. Conversely, there is some evidence that low humidity conditions can actually improve the barrier function of the skin. Ambient relative humidity has an impact on a range of parameters involved in skin health but the literature is inconclusive. Further

  5. Phosphorylated α-synuclein in skin nerve fibres differentiates Parkinson's disease from multiple system atrophy.

    PubMed

    Zange, Leonora; Noack, Cornelia; Hahn, Katrin; Stenzel, Werner; Lipp, Axel

    2015-08-01

    Deposition of phosphorylated SNCA (also known as α-synuclein) in cutaneous nerve fibres has been shown pre- and post-mortem in Parkinson's disease. Thus far, no pre-mortem studies investigating the presence of phosphorylated SNCA in skin sympathetic nerve fibres of multiple system atrophy, another synucleinopathy, have been conducted. In this in vivo study, skin from the ventral forearm of 10 patients with multiple system atrophy and 10 with Parkinson's disease, together with six control subjects with essential tremor, were examined by immunohistochemistry. Phosphorylated SNCA deposits in skin sympathetic nerve fibres and dermal nerve fibre density were assessed. All patients with Parkinson's disease expressed phosphorylated SNCA in sympathetic skin nerve fibres, correlating with an age-independent denervation of autonomic skin elements. In contrast, no phosphorylated SNCA was found in autonomic skin nerve fibres of patients with multiple system atrophy and essential tremor control subjects. These findings support that phosphorylated SNCA deposition is causative for nerve fibre degeneration in Parkinson's disease. Moreover, pre-mortem investigation of phosphorylated SNCA in cutaneous nerve fibres may prove a relevant and easily conductible diagnostic procedure to differentiate Parkinson's disease from multiple system atrophy. PMID:26017579

  6. Rapid, noninvasive quantitation of skin disease in systemic sclerosis using optical coherence elastography

    NASA Astrophysics Data System (ADS)

    Du, Yong; Liu, Chih-Hao; Lei, Ling; Singh, Manmohan; Li, Jiasong; Hicks, M. John; Larin, Kirill V.; Mohan, Chandra

    2016-04-01

    Systemic sclerosis (SSc) is a connective tissue disease that results in excessive accumulation of collagen in the skin and internal organs. Overall, SSc has a rare morbidity (276 cases per million adults in the United States), but has a 10-year survival rate of 55%. Currently, the modified Rodnan skin score (mRSS) is assessed by palpation on 17 sites on the body. However, the mRSS assessed score is subjective and may be influenced by the experience of the rheumatologists. In addition, the inherent elasticity of skin may bias the mRSS assessment in the early stage of SSc, such as oedematous. Optical coherence elastography (OCE) is a rapidly emerging technique, which can assess mechanical contrast in tissues with micrometer spatial resolution. In this work, the OCE technique is applied to assess the mechanical properties of skin in both control and bleomycin (BLM) induced SSc-like disease noninvasively. Young's modulus of the BLM-SSc skin was found be significantly higher than that of normal skin, in both the in vivo and in vitro studies (p<0.05). Thus, OCE is able to differentiate healthy and fibrotic skin using mechanical contrast. It is a promising new technology for quantifying skin involvement in SSc in a rapid, unbiased, and noninvasive manner.

  7. Periodic Acid-Schiff Staining Parallels the Immunoreactivity Seen By Direct Immunofluorescence in Autoimmune Skin Diseases

    PubMed Central

    Abreu Velez, Ana Maria; Upegui Zapata, Yulieth Alexandra; Howard, Michael S

    2016-01-01

    Background: In many countries and laboratories, techniques such as direct immunofluorescence (DIF) are not available for the diagnosis of skin diseases. Thus, these laboratories are limited in the full diagnoses of autoimmune skin diseases, vasculitis, and rheumatologic diseases. In our experience with these diseases and the patient's skin biopsies, we have noted a positive correlation between periodic acid-Schiff (PAS) staining and immunofluorescence patterns; however, these were just empiric observations. In the current study, we aim to confirm these observations, given the concept that the majority of autoantibodies are glycoproteins and should thus be recognized by PAS staining. Aims: To compare direct immunofluorescent and PAS staining, in multiple autoimmune diseases that are known to exhibit specific direct immunofluorescent patterns. Materials and Methods: We studied multiple autoimmune skin diseases: Five cases of bullous pemphigoid, five cases of pemphigus vulgaris, ten cases of cutaneous lupus, ten cases of autoimmune vasculitis, ten cases of lichen planus (LP), and five cases of cutaneous drug reactions (including one case of erythema multiforme). In addition, we utilized 45 normal skin control specimens from plastic surgery reductions. Results: We found a 98% positive correlation between DIF and PAS staining patterns over all the disease samples. Conclusion: We recommend that laboratories without access to DIF always perform PAS staining in addition to hematoxylin and eosin (H&E) staining, for a review of the reactivity pattern. PMID:27114972

  8. Diet and dermatology: the role of dietary intervention in skin disease.

    PubMed

    Katta, Rajani; Desai, Samir P

    2014-07-01

    For decades, it was thought that many common dermatological conditions had no relationship to diet. Studies from recent years, however, have made it clear that diet may influence outcome. In this review, the authors focus on conditions for which the role of diet has traditionally been an underappreciated aspect of therapy. In some cases, dietary interventions may influence the course of the skin disease, as in acne. In others, dietary change may serve as one aspect of prevention, such as in skin cancer and aging of the skin. In others, dermatological disease may be linked to systemic disease, and dietary changes may affect health outcomes, as in psoriasis. Lastly, systemic medications prescribed for dermatological disease, such as steroids, are known to raise the risk of other diseases, and dietary change may reduce this risk. PMID:25053983

  9. Role of soluble and cell surface molecules in the pathogenesis of autoimmune skin diseases.

    PubMed

    Drosera, M; Facchetti, F; Landolfo, S; Mondini, M; Nyberg, F; Parodi, A; Santoro, A; Zampieri, S; Doria, A

    2006-01-01

    The skin is one of the most commonly involved tissue in rheumatic autoimmune diseases. Different mechanisms are thought to be implicated in the pathogenesis of skin lesions. In genetically predisposed individuals, ultraviolet (UV) light can contribute to the induction of skin lesions via an inflammatory process. UV light promotes the release of cytokines by keratinocytes and the induction of adhesion molecules on the surface of epidermal cells initiating a cascade of inflammatory events and recruiting immunoinflammatory cells into the skin. In this review data regarding the expression of TNF-alpha in lesional skin tissue from subacute cutaneous lupus erythematosus patients and the role of interferons in the pathogenesis of skin manifestations of rheumatic autoimmune diseases are reported. In addition, an overview on the expression of cellular adhesion molecules in these diseases is provided.UV light can also induce apoptosis in keratinocytes. During this cell death several enzymes became activated. Among them, desoxyribonuclease (DNase) is an enzyme involved in degrading DNA during apoptosis. Data regarding the activity of DNAse in patients with cutaneous lupus erythematosus as a possible risk factor for the development of systemic disease are here reported. PMID:16466628

  10. Elafin is a biomarker of graft versus host disease of the skin

    PubMed Central

    Paczesny, Sophie; Braun, Thomas M; Levine, John E; Hogan, Jason; Crawford, Jeffrey; Coffing, Bryan; Olsen, Stephen; Choi, Sung W; Wang, Hong; Faca, Vitor; Pitteri, Sharon; Zhang, Qing; Chin, Alice; Kitko, Carrie; Mineishi, Shin; Yanik, Gregory; Peres, Edward; Hanauer, David; Wang, Ying; Reddy, Pavan; Hanash, Samir; Ferrara, James LM

    2010-01-01

    Graft-versus-host-disease (GVHD), the major complication of allogeneic bone marrow transplantation (BMT), affects the skin, liver and gastrointestinal (GI) tract. There are no plasma biomarkers specific for any acute GVHD target organ. We used a large scale, quantitative proteomic discovery procedure to identify biomarker candidates of skin GVHD and validated the lead candidate, elafin, by ELISA in samples from 492 patients. Elafin was overexpressed in GVHD skin biopsies. Plasma levels of elafin were significantly higher at the onset of skin GVHD, correlated with the eventual maximum grade of GVHD, and were associated with a greater risk of death relative to other known risk factors (hazard ratio of 1.78). We conclude that elafin has significant diagnostic and prognostic value as a biomarker of skin GVHD. PMID:20371463

  11. Elafin is a biomarker of graft-versus-host disease of the skin.

    PubMed

    Paczesny, Sophie; Braun, Thomas M; Levine, John E; Hogan, Jason; Crawford, Jeffrey; Coffing, Bryan; Olsen, Stephen; Choi, Sung W; Wang, Hong; Faca, Vitor; Pitteri, Sharon; Zhang, Qing; Chin, Alice; Kitko, Carrie; Mineishi, Shin; Yanik, Gregory; Peres, Edward; Hanauer, David; Wang, Ying; Reddy, Pavan; Hanash, Samir; Ferrara, James L M

    2010-01-01

    Graft-versus-host disease (GVHD), the major complication of allogeneic bone marrow transplantation, affects the skin, liver, and gastrointestinal tract. There are no plasma biomarkers specific for any acute GVHD target organ. We used a large-scale quantitative proteomic discovery procedure to identify biomarker candidates of skin GVHD and validated the lead candidate, elafin, with enzyme-linked immunosorbent assay in samples from 492 patients. Elafin was overexpressed in GVHD skin biopsies. Plasma concentrations of elafin were significantly higher at the onset of skin GVHD, correlated with the eventual maximum grade of GVHD, and were associated with a greater risk of death relative to other known risk factors (hazard ratio, 1.78). We conclude that elafin has significant diagnostic and prognostic value as a biomarker of skin GVHD. PMID:20371463

  12. Coronary heart disease risk factors in men with light and dark skin in Puerto Rico.

    PubMed Central

    Costas, R; Garcia-Palmieri, M R; Sorlie, P; Hertzmark, E

    1981-01-01

    The association of skin color with coronary heart disease risk factors was studied in 4,000 urban Puerto Rican men. Skin color on the inner upper arm was classified according to the von Luschan color tiles. Using this grading, men were separated into two groups of light or dark skin color. The dark group had a lower socioeconomic status (SES) based on income, education, and occupation. Dark men had slightly higher mean systolic blood pressures (SBP) and lower mean serum cholesterol levels than the light, but the relative weights and cigarette smoking habits of both groups were similar. After controlling for the differences in SES, skin color showed a small but statistically significant association with SBP. Whether this association with skin color represents genetic or environmental influences on SBP could not be determined from this study. PMID:7235099

  13. Steroid synthesis by primary human keratinocytes; implications for skin disease

    SciTech Connect

    Hannen, Rosalind F.; Michael, Anthony E.; Jaulim, Adil; Bhogal, Ranjit; Burrin, Jacky M.; Philpott, Michael P.

    2011-01-07

    Research highlights: {yields} Primary keratinocytes express the steroid enzymes required for cortisol synthesis. {yields} Normal primary human keratinocytes can synthesise cortisol. {yields} Steroidogenic regulators, StAR and MLN64, are expressed in normal epidermis. {yields} StAR expression is down regulated in eczema and psoriatic epidermis. -- Abstract: Cortisol-based therapy is one of the most potent anti-inflammatory treatments available for skin conditions including psoriasis and atopic dermatitis. Previous studies have investigated the steroidogenic capabilities of keratinocytes, though none have demonstrated that these skin cells, which form up to 90% of the epidermis are able to synthesise cortisol. Here we demonstrate that primary human keratinocytes (PHK) express all the elements required for cortisol steroidogenesis and metabolise pregnenolone through each intermediate steroid to cortisol. We show that normal epidermis and cultured PHK express each of the enzymes (CYP11A1, CYP17A1, 3{beta}HSD1, CYP21 and CYP11B1) that are required for cortisol synthesis. These enzymes were shown to be metabolically active for cortisol synthesis since radiometric conversion assays traced the metabolism of [7-{sup 3}H]-pregnenolone through each steroid intermediate to [7-{sup 3}H]-cortisol in cultured PHK. Trilostane (a 3{beta}HSD1 inhibitor) and ketoconazole (a CYP17A1 inhibitor) blocked the metabolism of both pregnenolone and progesterone. Finally, we show that normal skin expresses two cholesterol transporters, steroidogenic acute regulatory protein (StAR), regarded as the rate-determining protein for steroid synthesis, and metastatic lymph node 64 (MLN64) whose function has been linked to cholesterol transport in steroidogenesis. The expression of StAR and MLN64 was aberrant in two skin disorders, psoriasis and atopic dermatitis, that are commonly treated with cortisol, suggesting dysregulation of epidermal steroid synthesis in these patients. Collectively these data

  14. Identification of mast cells in buffy coat preparations from dogs with inflammatory skin diseases.

    PubMed

    Cayatte, S M; McManus, P M; Miller, W H; Scott, D W

    1995-02-01

    In 100 dogs with 4 inflammatory dermatologic diseases, buffy coat preparations from EDTA-treated blood samples were examined cytologically. Fifty-four dogs had atopy, 26 had flea-bite hypersensitivity, 17 had sarcoptic mange, and 3 had food allergy. Twenty-eight dogs had 2 or more concurrent skin diseases; most of these had secondary pyoderma. Dogs did not have mast cell tumors. Thirteen samples contained 1 or more mast cells/4 slides reviewed. This study revealed that dogs with inflammatory skin diseases can have a few to many mast cells evident on cytologic examination of buffy coat preparations. PMID:7751239

  15. Evidence of vertical transmission of lumpy skin disease virus in Rhipicephalus decoloratus ticks.

    PubMed

    Tuppurainen, Eeva S M; Lubinga, Jimmy C; Stoltsz, Wilhelm H; Troskie, Milana; Carpenter, Simon T; Coetzer, Jacobus A W; Venter, Estelle H; Oura, Chris A L

    2013-06-01

    Lumpy skin disease (LSD) is an economically important acute or sub-acute disease of cattle that occurs across Africa and in the Middle East. The aim of this study was to assess whether Rhipicephalus decoloratus ticks were able to transmit lumpy skin disease virus (LSDV) transovarially. Uninfected, laboratory-bred R. decoloratus larvae were placed to feed on experimentally infected "donor" cattle. After completion of the life cycle on donor animals, fully engorged adult female ticks were harvested and allowed to lay eggs. Larvae that hatched from these eggs were then transferred to feed on uninfected "recipient" cattle. The latter became viraemic and showed mild clinical disease with characteristic skin lesions and markedly enlarged precrural and subscapular lymph nodes. This is the first report of transovarial transmission of poxviruses by R. decoloratus ticks, and the importance of this mode of transmission in the spread of LSDV in endemic settings requires further investigation. PMID:23545323

  16. Analysis of Published Criteria for Clinically Inactive Disease in a Large Juvenile Dermatomyositis Cohort Shows That Skin Disease Is Underestimated

    PubMed Central

    Almeida, Beverley; Campanilho‐Marques, Raquel; Arnold, Katie; Pilkington, Clarissa A.; Wedderburn, Lucy R.; Armon, Kate; Briggs, Vanja; Ellis‐Gage, Joe; Roper, Holly; Watts, Joanna; Baildam, Eileen; Hanna, Louise; Lloyd, Olivia; McCann, Liza; Roberts, Ian; McGovern, Ann; Riley, Phil; Al‐Abadi, Eslam; Ryder, Clive; Scott, Janis; Southwood, Taunton; Thomas, Beverley; Amin, Tania; Burton, Deborah; Jackson, Gillian; Van Rooyen, Vanessa; Wood, Mark; Wyatt, Sue; Browne, Michael; Davidson, Joyce; Ferguson, Sue; Gardner‐Medwin, Janet; Martin, Neil; Waxman, Liz; Foster, Helen; Friswell, Mark; Jandial, Sharmila; Qiao, Lisa; Sen, Ethan; Smith, Eve; Stevenson, Vicky; Swift, Alison; Wade, Debbie; Watson, Stuart; Crate, Lindsay; Frost, Anna; Jordan, Mary; Mosley, Ellen; Satyapal, Rangaraj; Stretton, Elizabeth; Venning, Helen; Warrier, Kishore; Almeida, Beverley; Arnold, Katie; Beard, Laura; Brown, Virginia; Campanilho‐Marques, Raquel; Enayat, Elli; Glackin, Yvonne; Halkon, Elizabeth; Hasson, Nathan; Juggins, Audrey; Kassoumeri, Laura; Lunt, Sian; Maillard, Sue; Nistala, Kiran; Pilkington, Clarissa; Simou, Stephanie; Smith, Sally; Varsani, Hemlata; Wedderburn, Lucy; Murray, Kevin; Ioannou, John; Suffield, Linda; Al‐Obaidi, Muthana; Leach, Sam; Lee, Helen; Smith, Helen; Inness, Emma; Kendall, Eunice; Mayers, David; Wilkinson, Nick; Clinch, Jacqui; Pluess‐Hall, Helen

    2015-01-01

    Objective The Pediatric Rheumatology International Trials Organisation (PRINTO) recently published criteria for classification of patients with juvenile dermatomyositis (DM) as having clinically inactive disease. The criteria require that at least 3 of 4 conditions be met, i.e., creatine kinase level ≤150 units/liter, Childhood Myositis Assessment Scale score ≥48, Manual Muscle Testing in 8 muscles score ≥78, and physician's global assessment of overall disease activity (PGA) ≤0.2. The present study was undertaken to test these criteria in a UK cohort of patients with juvenile DM. Methods We assessed 1,114 patient visits for the 4 items in the PRINTO criteria for clinically inactive disease. Each visit was analyzed to determine whether skin disease was present. The Disease Activity Score (DAS) for juvenile DM was determined in 59 patients. Results At 307 of the 1,114 visits, clinically inactive disease was achieved based on the 3 muscle criteria (but with a PGA of >0.2); rash was present at 65.8% of these visits and nailfold capillary abnormalities at 35.2%. When PGA ≤0.2 was one of the 3 criteria that were met, the frequency of skin signs was significantly lower (rash in 23.1% and nailfold capillary abnormalities in 8.7%). If PGA was considered an essential criterion for clinically inactive disease (P‐CID), patients with active skin disease were less likely to be categorized as having clinically inactive disease (a median DAS skin score of 0 [of a possible maximum of 9] in visits where the PGA was ≤0.2, versus a median DAS skin score of 4 in patients meeting the 3 muscle criteria [with a PGA of >0.2]; P < 0.001). Use of the P‐CID led to improvements in the positive predictive value and the positive likelihood ratio (85.4% and 11.0, respectively, compared to 72.9% and 5.1 with the current criteria). Conclusion There was a high frequency of skin disease among patients with juvenile DM who did not meet the PGA criterion for inactive disease but met

  17. Ionic liquids as antimicrobials, solvents, and prodrugs for treating skin disease

    NASA Astrophysics Data System (ADS)

    Zakrewsky, Michael A.

    The skin is the largest organ in the body. It provides a compliant interface for needle-free drug delivery, while avoiding major degradative pathways associated with the GI tract. These can result in improved patient compliance and sustained and controlled release compared to other standard delivery methods such as intravenous injection, subcutaneous injection, and oral delivery. Concurrently, for the treatment of skin related diseases (e.g. bacterial infection, skin cancer, psoriasis, atopic dermatitis, etc.) cutaneous application provides targeted delivery to the disease site, allowing the use of more potent therapeutics with fewer systemic side effects. Unfortunately, the outer layer of the skin -- the stratum corneum (SC) -- presents a significant barrier to most foreign material. This is particularly true for large hydrophilic molecules (>500Da), which must partition through tortuous lipid channels in the SC to penetrate deep tissue layers where the majority of skin-related diseases reside. Interestingly, over the last few decades ionic liquids (ILs) have emerged as a burgeoning class of designer solvents. ILs have been proven beneficial for use in industrial processing, catalysis, pharmaceuticals, and electrochemistry to name a few. The ability to modulate either the cation or anion individually presents an advantageous framework for tuning secondary characteristics without sacrificing the primary function of the IL. Here we report the use of novel ILs for cutaneous drug delivery. Specifically, we demonstrate their potential as potent, broad-spectrum antimicrobials, as solvents for topical delivery of hydrophilic and hydrophobic drugs, and as prodrugs to either reduce the dose-dependent toxicity of drugs that cause skin irritation or enhance delivery of macromolecules into skin and cells. Thus, our results clearly demonstrate ILs holds promise as a transformative platform for treating skin disease.

  18. Pathogenetic and therapeutic implications of the histamine H4 receptor in inflammatory skin diseases and pruritus.

    PubMed

    Gutzmer, Ralf; Gschwandtner, Maria; Rossbach, Kristine; Mommert, Susanne; Werfel, Thomas; Kietzmann, Manfred; Baeumer, Wolfgang

    2011-01-01

    Chronic inflammatory skin diseases such as atopic dermatitis (AD) are clinically characterized by erythematous and pruritic skin lesions, immunologically mediated by an inflammatory infiltrate consisting of T-cells, antigen presenting cells (APC) and eosinophilic granulocytes. Histamine levels are increased in lesions of inflammatory skin diseases. It is likely that histamine also plays a pathogenetic role since various relevant cell types such as T-cells and APC express functional histamine receptors. However, therapeutic blockade of the histamine H1 and H2 receptor is inefficient at least in the treatment of atopic dermatitis. We summarize here current data on the role of the recently described histamine H4 receptor (H4R) in chronic inflammatory skin diseases. The H4R is functionally expressed on relevant cell types such as T-cells, APC and keratinocytes. In murine models of contact hypersensitivity and pruritus, H4R blockade had significant in vivo effects. Taken together, several lines of evidence suggest a role of the H4R in chronic inflammatory skin disease and the H4R might be a therapeutic target for diseases such as AD. PMID:21622248

  19. Gender and ethnic differences in onchocercal skin disease in Oyo State, Nigeria.

    PubMed

    Brieger, W R; Ososanya, O O; Kale, O O; Oshiname, F O; Oke, G A

    1997-06-01

    During preparation for a study on the effects of ivermectin treatment on onchocercal skin disease in the Ifeloju Local Government Area of Oyo State, Nigeria, 1032 adults aged 20 years and older were examined for skin lesions and palpable nodules. It was found that for 4 types of skin lesions, acute papular onchodermatitis (APOD), chronic papular onchodermatitis (CPOD), lichenified onchodermatitis (LOD) and depigmentation (leopard skin), as well as for subcutaneous nodules, females had a significantly higher prevalence than males. Although the area is inhabited primarily by the Yoruba people, the study also included some of the cattle-herding Fulani ethnic group. The reactive skin lesions, APOD, CPOD and LOD, were found to be more common among the Fulani, although there were no significant differences in leopard skin and nodules between both groups. While there is need for further research on both immunological and behavioural factors that may lead to these differences in disease. The need to achieve equity in health programming by ensuring that women and ethnic minorities receive full disease control services is of more immediate concern. PMID:9236819

  20. Exposure to ambient bioaerosols is associated with allergic skin diseases in Greater Taipei residents.

    PubMed

    Kallawicha, Kraiwuth; Chuang, Ying-Chih; Lung, Shih-Chun Candice; Han, Bor-Cheng; Ting, Yi-Fang; Chao, Hsing Jasmine

    2016-09-01

    Allergic skin diseases may result from various types of chemical and biological allergens. This study investigated the association between ambient bioaerosol exposure and allergic skin diseases by using the exposure data obtained from land use regression models and interpolated data. Data on daily average outpatient visits for atopic dermatitis (ICD-9-CM 691.8) and contact dermatitis and other eczema (ICD-9-CM 692.9) between November 2011 and August 2012 were obtained from the National Health Insurance Research Database. A generalized estimating equation was used to analyze the associations between the skin diseases and ambient bioaerosol levels. The results indicated that during the study period, contact dermatitis and other eczema were more prevalent than atopic dermatitis in the study area. Most cases were observed in districts of Taipei City and 3 major districts of New Taipei City, namely Xinzhuang, Banqiao, and Xindian. In univariate analysis, most bioaerosols were positively associated with both skin diseases. After adjustment for air pollution and sociodemographic factors, exposure to total fungal spores was significantly associated with atopic dermatitis in males (relative risk [RR] = 1.12; 95% confidence interval [CI] = 1.05-1.19). Contact dermatitis and other eczema had significant relationships with Cladosporium in males (RR = 1.07; 95% CI = 1.02-1.14) and with Aspergillus/Penicillium in females (RR = 1.04; 95% CI = 1.02-1.07). Meteorological parameters, namely wind speed, temperature, and rainfall, were also significantly associated with skin diseases. Our findings reveal that exposure to ambient bioaerosols is a significant and independent risk factor for allergic skin diseases. PMID:27389548

  1. Prevalence of Common Skin Diseases and Their Associated Factors among Military Personnel in Korea: A Cross-sectional Study

    PubMed Central

    Bae, Jung Min; Ha, Beomman; Lee, Hongsun; Park, Chang Keun; Kim, Hyun Joon

    2012-01-01

    This study was conducted to clarify the prevalence of common skin diseases and their associated factors among military personnel in Korea. Four dermatologists visited adjacent military units and examined soldiers. A structured questionnaire that included questions about known skin diseases, demographic information, and questions for the Perceived Stress Index was completed for each participant. The soldiers that had been diagnosed with a skin disease answered one additional questionnaire (Skindex-29) which assess the influence of an individual's skin disease on daily life. Of 1,321 soldiers examined, 798 (60.4%) had one or more skin diseases. The three most common skin problems were acne (35.6%), tinea pedis (15.2%) and atopic dermatitis (5.1%). The diseases closely related to the period of military service were acne, tinea pedis, viral warts and corns. The diseases related to the amount of stress were atopic dermatitis, seborrheic dermatitis, and acne. The most troublesome skin diseases were atopic dermatitis, tinea cruris, and seborrheic dermatitis. These results demonstrated that the prevalence of skin disease among military personnel in Korea is very high, and that some of the skin disorders may have a significant influence on their daily lives. PMID:23091325

  2. Inhibition of collagen synthesis and changes in skin morphology in murine graft-versus-host disease and tight skin mice: effect of halofuginone.

    PubMed

    Levi-Schaffer, F; Nagler, A; Slavin, S; Knopov, V; Pines, M

    1996-01-01

    The effect of halofuginone, a plant alkaloid known to inhibit collagen type I synthesis, on skin collagen content and skin morphology was evaluated in two in vivo models of scleroderma: the murine chronic graft-versus-host disease (cGvHD) and the tight skin mouse. Skin collagen was assessed by hydroxyproline levels in skin biopsies and by immunohistochemistry using anti-collagen type I antibodies. Daily intraperitoneal injections of halofuginone (1 microgram/mouse) for 52 d starting 3 d before spleen cell transplantation, abrogated the increase in skin collagen and prevented the thickening of the dermis and the loss of the subdermal fat, all of which are characteristic of the cGvHD mice. Halofuginone had a minimal effect on collagen content of the control mice. The halofuginone-dependent decrease in skin collagen content was concentration-dependent and was not accompanied by changes in body weight in either the cGvHD or the control mice. Injections of halofuginone (1 microgram/mouse) for 45 d caused a decrease in the collagen content and dermis width in tight skin mice, but did not affect the dermis width of control mice. Collagen content determination from skin biopsies confirmed the immunohistochemical results in the same mice. The low concentration of halofuginone needed to prevent collagen deposition in fibrotic skin without affecting body weight suggests that halofuginone may serve as a novel and promising anti-fibrotic therapy. PMID:8592087

  3. Effects and dose-response relationships of skin cancer and blackfoot disease with arsenic

    PubMed Central

    Tseng, Wen-Ping

    1977-01-01

    In a limited area on the southwest coast of Taiwan, where artesian well water with a high concentration of arsenic has been used for more than 60 years, a high prevalence of chronic arsenicism has been observed in recent years. The total population of this “endemic” area is approximately 100,000. A general survey of 40,421 inhabitants and follow-up of 1,108 patients with blackfoot disease were made. Blackfoot disease, so-termed locally, is a peripheral vascular disorder resulting in gangrene of the extremities, especially the feet. The overall prevalence rates for skin cancer was 10.6 per 1000, and for blackfoot disease 8.9 per 1000. Generally speaking, the prevalence increased steadily with age in both diseases. The prevalence rates for skin cancer and blackfoot disease increased with the arsenic content of well water, i.e., the higher the arsenic content, the more patients with skin cancer and blackfoot disease. A dose–response relationship between blackfoot disease and the duration of water intake was also noted. Furthermore, the degree of permanent impairment of function in the patient was directly related to duration of intake of arsenical water and to duration of such intake at the time of onset. The most common cause of death in the patients with skin cancer and blackfoot disease was carcinoma of various sites. The 5-year survival rate after the onset of blackfoot disease was 76.3%; the 10-year survival rate was 63.3% and 15-year survival rate, 52.2%. The 50% survival point was 16 years after onset of the disease. ImagesFIGURE 1.FIGURE 2. PMID:908285

  4. Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase

    PubMed Central

    Warnock, David G.; Bichet, Daniel G.; Holida, Myrl; Goker-Alpan, Ozlem; Nicholls, Kathy; Thomas, Mark; Eyskens, Francois; Shankar, Suma; Adera, Mathews; Sitaraman, Sheela; Khanna, Richie; Flanagan, John J.; Wustman, Brandon A.; Barth, Jay; Barlow, Carrolee; Valenzano, Kenneth J.; Lockhart, David J.; Boudes, Pol; Johnson, Franklin K.

    2015-01-01

    Migalastat HCl (AT1001, 1-Deoxygalactonojirimycin) is an investigational pharmacological chaperone for the treatment of α-galactosidase A (α-Gal A) deficiency, which leads to Fabry disease, an X-linked, lysosomal storage disorder. The currently approved, biologics-based therapy for Fabry disease is enzyme replacement therapy (ERT) with either agalsidase alfa (Replagal) or agalsidase beta (Fabrazyme). Based on preclinical data, migalastat HCl in combination with agalsidase is expected to result in the pharmacokinetic (PK) enhancement of agalsidase in plasma by increasing the systemic exposure of active agalsidase, thereby leading to increased cellular levels in disease-relevant tissues. This Phase 2a study design consisted of an open-label, fixed-treatment sequence that evaluated the effects of single oral doses of 150 mg or 450 mg migalastat HCl on the PK and tissue levels of intravenously infused agalsidase (0.2, 0.5, or 1.0 mg/kg) in male Fabry patients. As expected, intravenous administration of agalsidase alone resulted in increased α-Gal A activity in plasma, skin, and peripheral blood mononuclear cells (PBMCs) compared to baseline. Following co-administration of migalastat HCl and agalsidase, α-Gal A activity in plasma was further significantly increased 1.2- to 5.1-fold compared to agalsidase administration alone, in 22 of 23 patients (95.6%). Importantly, similar increases in skin and PBMC α-Gal A activity were seen following co-administration of migalastat HCl and agalsidase. The effects were not related to the administered migalastat HCl dose, as the 150 mg dose of migalastat HCl increased α-Gal A activity to the same extent as the 450 mg dose. Conversely, agalsidase had no effect on the plasma PK of migalastat. No migalastat HCl-related adverse events or drug-related tolerability issues were identified. Trial Registration ClinicalTrials.gov NCT01196871 PMID:26252393

  5. Topical hypochlorite ameliorates NF-κB–mediated skin diseases in mice

    PubMed Central

    Leung, Thomas H.; Zhang, Lillian F.; Wang, Jing; Ning, Shoucheng; Knox, Susan J.; Kim, Seung K.

    2013-01-01

    Nuclear factor-κB (NF-κB) regulates cellular responses to inflammation and aging, and alterations in NF-κB signaling underlie the pathogenesis of multiple human diseases. Effective clinical therapeutics targeting this pathway remain unavailable. In primary human keratinocytes, we found that hypochlorite (HOCl) reversibly inhibited the expression of CCL2 and SOD2, two NF-κB–dependent genes. In cultured cells, HOCl inhibited the activity of inhibitor of NF-κB kinase (IKK), a key regulator of NF-κB activation, by oxidizing cysteine residues Cys114 and Cys115. In NF-κB reporter mice, topical HOCl reduced LPS-induced NF-κB signaling in skin. We further evaluated topical HOCl use in two mouse models of NF-κB–driven epidermal disease. For mice with acute radiation dermatitis, topical HOCl inhibited the expression of NF-κB–dependent genes, decreased disease severity, and prevented skin ulceration. In aged mice, topical HOCl attenuated age-dependent production of p16INK4a and expression of the DNA repair gene Rad50. Additionally, skin of aged HOCl-treated mice acquired enhanced epidermal thickness and proliferation, comparable to skin in juvenile animals. These data suggest that topical HOCl reduces NF-κB–mediated epidermal pathology in radiation dermatitis and skin aging through IKK modulation and motivate the exploration of HOCl use for clinical aims. PMID:24231355

  6. Immunofluorescence Patterns in Selected Dermatoses, Including Blistering Skin Diseases Utilizing Multiple Fluorochromes

    PubMed Central

    Abreu-Velez, Ana Maria; Calle-Isaza, Juliana; Howard, Michael S.

    2015-01-01

    Background: Autoimmune vesiculobullous disorders represent a heterogeneous group of dermatoses whose diagnosis is made based on clinical history, histologic features, and immunopathologic features. The most commonly used techniques for the diagnosis of these diseases are direct and indirect immunofluorescence (DIF and IIF), including salt-split processing. NaCl split skin is used to determine the level of blister formation, and the localization of autoantibodies relative to the split. Classically, immunofluorescence has been performed with one fluorochrome in the diagnosis of autoimmune bullous skin diseases. Aims: To compare DIF and IIF of the skin, using a single fluorochrome versus multiple fluorochromes. Materials and Methods: We studied 20 autoimmune skin disease cases using fluorescein isothiocyanate (FITC) alone, in comparison to multiple fluorochromes (with or without DNA counterstaining). Results: The use of multiple fluorochromes helped to simultaneously visualize reactivity in multiple skin areas, in contrast to using FITC alone. Conclusions: Using multiple fluorochromes allows simultaneous labeling of two or more antigens within the same cell/or tissue section, assists in colocalization of unknown antigens with known molecules, and helps in ruling out “background” staining. PMID:26605203

  7. Clinical combination of multiphoton tomography and high frequency ultrasound imaging for evaluation of skin diseases

    NASA Astrophysics Data System (ADS)

    König, K.; Speicher, M.; Koehler, M. J.; Scharenberg, R.; Elsner, P.; Kaatz, M.

    2010-02-01

    For the first time, high frequency ultrasound imaging, multiphoton tomography, and dermoscopy were combined in a clinical study. Different dermatoses such as benign and malign skin cancers, connective tissue diseases, inflammatory skin diseases and autoimmune bullous skin diseases have been investigated with (i) state-of-the-art and highly sophisticated ultrasound systems for dermatology, (ii) the femtosecond-laser multiphoton tomograph DermaInspectTM and (iii) dermoscopes. Dermoscopy provides two-dimensional color imaging of the skin surface with a magnification up to 70x. Ultrasound images are generated from reflections of the emitted ultrasound signal, based on inhomogeneities of the tissue. These echoes are converted to electrical signals. Depending on the ultrasound frequency the penetration depth varies from about 1 mm to 16 mm in dermatological application. The 100-MHz-ultrasound system provided an axial resolution down to 16 μm and a lateral resolution down to 32 μm. In contrast to the wide-field ultrasound images, multiphoton tomography provided horizontal optical sections of 0.36×0.36 mm2 down to 200 μm tissue depth with submicron resolution. The autofluorescence of mitochondrial coenzymes, melanin, and elastin as well as the secondharmonic- generation signal of the collagen network were imaged. The combination of ultrasound and multiphoton tomography provides a novel opportunity for diagnostics of skin disorders.

  8. miRNAs in inflammatory skin diseases and their clinical implications.

    PubMed

    Løvendorf, Marianne B; Skov, Lone

    2015-04-01

    miRNAs are a class of non-coding RNA molecules that modulate gene expression post-transcriptionally. They have a major impact on several physiological and pathological cellular processes including modulation of the innate and the adaptive immune system. The role of miRNAs in skin biology is still incomplete; however, it is known that miRNAs are implicated in various cellular processes of both normal and diseased skin. Some miRNAs appear to be consistently deregulated in several different inflammatory skin diseases, including psoriasis and atopic dermatitis, indicating a common role in fundamental biological processes. The clinical implications of miRNAs are intriguing, both from a diagnostic and a therapeutic perspective. Accordingly, there is emerging evidence for the clinical potential of miRNAs as both biomarkers and possible therapeutic targets in skin diseases. Future studies will hopefully establish the biological significance of miRNAs in skin biology, paving the way for new miRNA-based diagnostic and therapeutic applications in dermatology. PMID:25719822

  9. Discrimination of skin diseases using the multimodal imaging approach

    NASA Astrophysics Data System (ADS)

    Vogler, N.; Heuke, S.; Akimov, D.; Latka, I.; Kluschke, F.; Röwert-Huber, H.-J.; Lademann, J.; Dietzek, B.; Popp, J.

    2012-06-01

    Optical microspectroscopic tools reveal great potential for dermatologic diagnostics in the clinical day-to-day routine. To enhance the diagnostic value of individual nonlinear optical imaging modalities such as coherent anti-Stokes Raman scattering (CARS), second harmonic generation (SHG) or two-photon excited fluorescence (TPF), the approach of multimodal imaging has recently been developed. Here, we present an application of nonlinear optical multimodal imaging with Raman-scattering microscopy to study sizable human-tissue cross-sections. The samples investigated contain both healthy tissue and various skin tumors. This contribution details the rich information content, which can be obtained from the multimodal approach: While CARS microscopy, which - in contrast to spontaneous Raman-scattering microscopy - is not hampered by single-photon excited fluorescence, is used to monitor the lipid and protein distribution in the samples, SHG imaging selectively highlights the distribution of collagen structures within the tissue. This is due to the fact, that SHG is only generated in structures which lack inversion geometry. Finally, TPF reveals the distribution of autofluorophores in tissue. The combination of these techniques, i.e. multimodal imaging, allows for recording chemical images of large area samples and is - as this contribution will highlight - of high clinically diagnostic value.

  10. Development of atopic dermatitis-like skin disease from the chronic loss of epidermal caspase-8.

    PubMed

    Li, Christopher; Lasse, Samuel; Lee, Pedro; Nakasaki, Manando; Chen, Shih-Wei; Yamasaki, Kenshi; Gallo, Richard L; Jamora, Colin

    2010-12-21

    Atopic dermatitis is an inflammatory skin disease that affects approximately 20% of children worldwide. Left untreated, the barrier function of the skin is compromised, increasing susceptibility to dehydration and infection. Despite its prevalence, its multifactorial nature has complicated the unraveling of its etiology. We found that chronic loss of epidermal caspase-8 recapitulates many aspects of atopic dermatitis, including a spongiotic phenotype whereby intercellular adhesion between epidermal keratinocytes is disrupted, adversely affecting tissue architecture and function. Although spongiosis is generally thought to be secondary to edema, we found that suppression of matrix metalloproteinase-2 activity is sufficient to abrogate this defect. p38 MAPK induces matrix metalloproteinase-2 expression to cleave E-cadherin, which mediates keratinocyte cohesion in the epidermis. Thus, the conditional loss of caspase-8, which we previously found to mimic a wound response, can be used to gain insights into how these same wound-healing processes are commandeered in inflammatory skin diseases. PMID:21135236

  11. Occupational skin diseases from 1997 to 2004 at the Department of Dermatology, University Hospital of Northern Norway (UNN): an investigation into the course and treatment of occupational skin disease 10–15 years after first consultations with a dermatologist

    PubMed Central

    Braun, Rosemarie; Dotterud, Lars Kåre

    2016-01-01

    Objectives We investigate the impact of occupational skin disease consultations among outpatients at the Dermatological Department, University Hospital, Northern Norway. Study design From 1997 until 2004, 386 patients with occupational skin disease were examined and given advice on skin care, skin disease treatment, skin protection in further work, and on the legal rights of patients with this disease. Ten to fifteen years later, we wanted to look at these patients in terms of their work situation, the current status of their disease, the help they received from the labour offices, and their subjective quality of life. Material and methods In the autumn of 2011 until the spring of 2012, a number of the patients examined in the period from 1997 to 2004 were selected and sent a questionnaire, which they were asked to answer and return, regarding their work situation and the progress and current status of their occupational disease. Results A total of 153 (77%) patients answered the questionnaire; 71% of these patients were still in work, and further 15% had old-age retired, 13% were working until then; 16% had retired early because of disability; 54% had changed jobs because of their occupational skin disease; 86% of the patients indicated that the skin disease had improved since our previous investigation. Conclusions Our investigation into patients with occupational skin disease documented that the majority of patients who had received professional dermatological consultation and intervention offers were still in the labour market and had good control of their skin disease 10–15 years later. We discovered that 71% of the patients were still employed. 13% had remained in work until they became old age pensioners. Only 16% dropped out of work because of disability. These high percentages may indicate that our intervention has contributed positively to patients’ work conditions and the course of their skin disease. PMID:27172061

  12. 76 FR 55399 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-07

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  13. 77 FR 64814 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-10-23

    ... rheumatoid arthritis and skin diseases. Date: November 16, 2012. Time: 9:00 a.m. to 12:00 p.m. Agenda: To... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and... unwarranted invasion of personal privacy. Name of Committee: National Institute of Arthritis...

  14. The Occurrence and Prevalence of Giraffe Skin Disease in Protected Areas of Northern Tanzania.

    PubMed

    Lee, Derek E; Bond, Monica L

    2016-07-01

    Giraffe skin disease (GSD) is a disorder of undetermined etiology that causes lesions on the forelimbs of Masai giraffe ( Giraffa camelopardalis tippelskirchi). We estimated occurrence and prevalence of GSD in six wildlife conservation areas of Tanzania. The disjunct spatial pattern of occurrence implies that environmental factors may influence GSD. PMID:27310168

  15. 77 FR 67824 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-14

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Amended Notice of Meeting Notice is hereby given of a change in the meeting of the National Institute of Arthritis and...

  16. 77 FR 63844 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-10-17

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  17. 77 FR 4051 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-01-26

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  18. 78 FR 64223 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-28

    ..., Bethesda, MD, 20892 which was published in the Federal Register on September 30, 2013, 78 FR 59945. This... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Amended Notice of Meeting Notice is hereby given of a change in the meeting of...

  19. 78 FR 66029 - National Institute of Arthritis and Musculoskeletal and Skin Diseases Amended; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-04

    ... Road, Bethesda, MD 20852, which was published in the Federal Register on September 23, 2013, 78 FR... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases Amended; Notice of Meeting Notice is hereby given of a change in the meeting of...

  20. 78 FR 76634 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-18

    ... 30, 2013, 78 FR 59945. This teleconference, originally scheduled for October 23, 2013, will be held... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Amended Notice of Meeting Notice is hereby given of a change in the meeting of...

  1. 76 FR 24896 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-03

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is hereby given...

  2. 77 FR 14407 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Amended Notice of Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-03-09

    ... Democracy Boulevard, Bethesda, MD 20892 which was published in the Federal Register on February 17, 2012, FR... HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Amended Notice of Meeting Notice is hereby given of a change in the meeting of...

  3. 76 FR 24892 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-03

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  4. 76 FR 65737 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-10-24

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  5. 76 FR 14035 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-15

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  6. 77 FR 4048 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-01-26

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  7. 77 FR 35416 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-06-13

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  8. Cathelicidin LL-37: An Antimicrobial Peptide with a Role in Inflammatory Skin Disease

    PubMed Central

    Reinholz, Markus; Ruzicka, Thomas

    2012-01-01

    Chronic inflammatory skin diseases such as atopic dermatitis, psoriasis or rosacea are very common. Although their exact pathogenesis is not completely understood all three diseases are characterized by dysregulation of cutaneous innate immunity. Cathelicidin LL-37 is an important effector molecule of innate immunity in the skin and atopic dermatitis, psoriasis or rosacea show defects in cathelicidin expression, function or processing. In atopic dermatitis, cathelicidin induction might be disturbed resulting in defective antimicrobial barrier function. In contrast, psoriasis is characterized by overexpression of cathelicidin. However to date it is unclear whether pro- or anti-inflammatory functions of cathelicidin predominate in lesional skin in psoriasis. In rosacea, cathelicidin processing is disturbed resulting in peptide fragments causing inflammation, erythema and telangiectasias. In this review, the current evidence on the role of cathelicidin LL-37 in the pathogenesis of inflammatory skin diseases will be outlined. As cathelicidin LL-37 might also serve as a future treatment target potential novel treatment strategies for those diseases will be discussed. PMID:22577261

  9. 78 FR 64223 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-28

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  10. 78 FR 21617 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-11

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  11. 78 FR 36789 - National Institute of Arthritis And Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-06-19

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis And Musculoskeletal and Skin Diseases; Notice of Closed Meeting Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  12. 78 FR 13364 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-02-27

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meetings Pursuant to section 10(d) of the Federal Advisory Committee Act, as amended (5 U.S.C. App.), notice is...

  13. Loss of serum response factor in keratinocytes results in hyperproliferative skin disease in mice

    PubMed Central

    Koegel, Heidi; von Tobel, Lukas; Schäfer, Matthias; Alberti, Siegfried; Kremmer, Elisabeth; Mauch, Cornelia; Hohl, Daniel; Wang, Xiao-Jing; Beer, Hans-Dietmar; Bloch, Wilhelm; Nordheim, Alfred; Werner, Sabine

    2009-01-01

    The transcription factor serum response factor (SRF) plays a crucial role in the development of several organs. However, its role in the skin has not been explored. Here, we show that keratinocytes in normal human and mouse skin expressed high levels of SRF but that SRF expression was strongly downregulated in the hyperproliferative epidermis of wounded and psoriatic skin. Keratinocyte-specific deletion within the mouse SRF locus during embryonic development caused edema and skin blistering, and all animals died in utero. Postnatal loss of mouse SRF in keratinocytes resulted in the development of psoriasis-like skin lesions. These lesions were characterized by inflammation, hyperproliferation, and abnormal differentiation of keratinocytes as well as by disruption of the actin cytoskeleton. Ultrastructural analysis revealed markedly reduced cell-cell and cell-matrix contacts and loss of cell compaction in all epidermal layers. siRNA-mediated knockdown of SRF in primary human keratinocytes revealed that the cytoskeletal abnormalities and adhesion defects were a direct consequence of the loss of SRF. In contrast, the hyperproliferation observed in vivo was an indirect effect that was most likely a consequence of the inflammation. These results reveal that loss of SRF disrupts epidermal homeostasis and strongly suggest its involvement in the pathogenesis of hyperproliferative skin diseases, including psoriasis. PMID:19307725

  14. The role of filaggrin mutations during pregnancy and postpartum: atopic dermatitis and genital skin diseases.

    PubMed

    Bager, P; Wohlfahrt, J; Boyd, H; Thyssen, J P; Melbye, M

    2016-05-01

    Mutations in the epidermal filaggrin gene (FLG) are associated with skin barrier dysfunction (dry skin, less acidic skin, and fissured skin), and atopic dermatitis (AD) with a severe and persistent course. Because pregnancy and delivery further impairs normal skin barrier functions (immune suppression, mechanical stress), we studied the possible role of FLG mutations on the risk of AD flares, genital infections, and postpartum problems related to perineal trauma. FLG-genotyping was performed in a population-based sample of 1837 women interviewed in the 12th and 30th weeks of pregnancy and 6 months postpartum as part of the Danish National Birth Cohort study 1996-2002. We found that FLG mutations also influence pregnancy-related skin disease; thus, women with FLG mutations had an increased risk of AD flares during pregnancy (OR 10.5, 95% CI 3.6-30.5) and of enduring postpartum physical problems linked to perineal trauma during delivery (OR 11.1, 95% CI 1.1-107.7). PMID:26835886

  15. Near-infrared Hyperspectral Reflectance Imaging for Early Detection of Sour Skin Disease in Vidalia Sweet Onions

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Sour skin is a major onion disease caused by the bacterium Burkholderia cepacia (B. cepacia). It not only causes substantial economic loss from diseased onions but also could lead to pulmonary infection in humans. It is critical to prevent onions infected by sour skin from entering storage rooms or ...

  16. Skin and wound issues in patients with Parkinson's disease: an overview of common disorders.

    PubMed

    Beitz, Janice M

    2013-06-01

    Parkinson's Disease is a chronic neurodegenerative disorder that is expected to increase in coming decades as the American population continues to age. Although the motor dysfunction (bradykinesia, tremor, rigidity) of Parkinson's Disease is well described in the literature, the nonmotor dysfunction related to autonomic system changes is not as commonly addressed. Ironically, nonmotor changes, such as seborrhea, sialorrhea, hyperhidrosis, and sensory denervation occur earlier in the disease process and exert a profound effect on patients' quality of life. The depletion of dopamine, a critically important neurotransmitter, is the critical pathology of Parkinson's disease. Therapies targeting this abnormality and the effect of insufficient dopamine itself can affect the integumentary system and potentially wound healing. The purpose of this review is to describe changes in the autonomic nervous system due to Parkinson's Disease with a focused overview of common skin and wound care issues that may affect wound care clinician practice. Implications for nurses and other clinicians caring for Parkinson's Disease patients include surveillance for melanoma and other skin cancers, skin protection against excessive moisture or the effects of insufficient moisture, monitoring of wound healing progress, and interventions to prevent or ameliorate complications of immobility. PMID:23749660

  17. Senescent phenotypes of skin fibroblasts from patients with Tangier disease

    SciTech Connect

    Matsuura, Fumihiko . E-mail: fumihiko@imed2.med.osaka-u.ac.jp; Hirano, Ken-ichi; Ikegami, Chiaki; Sandoval, Jose C.; Oku, Hiroyuki; Yuasa-Kawase, Miyako; Tsubakio-Yamamoto, Kazumi; Koseki, Masahiro; Masuda, Daisaku; Tsujii, Ken-ichi; Shimomura, Iichiro; Hori, Masatsugu; Yamashita, Shizuya; Ishigami, Masato; Nishida, Makoto

    2007-06-01

    Tangier disease (TD) is characterized by a deficiency of high density lipoprotein (HDL) in plasma and patients with TD have an increased risk for coronary artery disease (CAD). Recently, we reported that fibroblasts from TD exhibited large and flattened morphology, which is often observed in senescent cells. On the other hand, data have accumulated to show the relationship between cellular senescence and development of atherosclerotic CAD. The aim of the present study was to investigate whether TD fibroblasts exhibited cellular senescence. The proliferation of TD fibroblasts was gradually decreased at population doubling level (PDL) {approx}10 compared with control cells. TD cells practically ceased proliferation at PDL {approx}30. DNA synthesis was markedly decreased in TD fibroblasts. TD cells exhibited a higher positive rate for senescence-associated {beta}-galactosidase (SA-{beta}-gal), which is one of the biomarkers of cellular senescence in vitro. These data showed that TD cells reached cellular senescence at an earlier PDL compared with controls. Although, there was no difference in the telomere length of fibroblasts between TD and controls at the earlier passage (PDL 6), the telomere length of TD cells was shorter than that of controls at the late passage (PDL 25). Taken together, the current study demonstrates that the late-passaged TD fibroblasts showed senescent phenotype in vitro, which might be related to the increased cardiovascular manifestations in TD patients.

  18. Skin Autofluorescence Is Associated with the Progression of Chronic Kidney Disease: A Prospective Observational Study

    PubMed Central

    Tanaka, Kenichi; Nakayama, Masaaki; Kanno, Makoto; Kimura, Hiroshi; Watanabe, Kimio; Tani, Yoshihiro; Kusano, Yuki; Suzuki, Hodaka; Hayashi, Yoshimitsu; Asahi, Koichi; Sato, Keiji; Miyata, Toshio; Watanabe, Tsuyoshi

    2013-01-01

    Background Advanced glycation end product (AGE) accumulation is thought to be a measure of cumulative metabolic stress that has been reported to independently predict cardiovascular disease in diabetes and renal failure. The aim of this study was to evaluate the association between AGE accumulation, measured as skin autofluorescence, and the progression of renal disease in pre-dialysis patients with chronic kidney disease (CKD). Methods Skin autofluorescence was measured noninvasively with an autofluorescence reader at baseline in 449 pre-dialysis patients with CKD. The primary end point was defined as a doubling of serum creatinine and/or need for dialysis. Results Thirty-three patients were lost to follow-up. Forty six patients reached the primary end point during the follow-up period (Median 39 months). Kaplan-Meier analysis showed a significantly higher risk of development of the primary end points in patients with skin autofluorescence levels above the optimal cut-off level of 2.31 arbitrary units, derived by receiver operator curve analysis. Cox regression analysis revealed that skin autofluorescence was an independent predictor of the primary end point, even after adjustment for age, gender, smoking history, diabetes, estimated glomerular filtration rate and proteinuria (adjusted hazard ratio 2.58, P = 0.004). Conclusions Tissue accumulation of AGEs, measured as skin autofluorescence, is a strong and independent predictor of progression of CKD. Skin autofluorescence may be useful for risk stratification in this group of patients; further studies should clarify whether AGE accumulation could be one of the therapeutic targets to improve the prognosis of CKD. PMID:24349550

  19. Fine-needle aspiration in the diagnosis of equine skin disease and the epidemiology of equine skin cytology submissions in a western Canadian diagnostic laboratory.

    PubMed

    Zachar, Erin K; Burgess, Hilary J; Wobeser, Bruce K

    2016-06-01

    Fine-needle aspiration (FNA) is commonly used to diagnose skin disease in companion animals, but its use in horses appears to be infrequent. Equine veterinarians in western Canada were surveyed to determine their opinions about FNA and 15 years of diagnostic submissions were used to compare the perceived to actual value of FNA in the diagnosis of skin disease in horses. Practitioners viewed FNA as quick, easy, economical, and minimally invasive. However, most veterinarians rarely chose to use FNA due to a perception that sample quality and diagnostic yield were poor and there was a narrow range of diseases the technique could diagnose. Analysis of the FNA cytology samples from a veterinary diagnostic laboratory showed a wide variety of equine skin disease conditions, but the frequency of non-diagnostic results was significantly higher in equine submissions compared to those from dogs and cats. PMID:27247463

  20. The Skindex instruments to measure the effects of skin disease on quality of life.

    PubMed

    Chren, Mary-Margaret

    2012-04-01

    Skindex-29 and Skindex-16 are validated measures of the effects of skin diseases on patients' quality of life. This article reviews the development of both versions of Skindex, discusses their measurement properties and interpretability, and gives examples of how they have been used and adapted for dermatologic research internationally. Studies of quality of life in patients with nonmelanoma skin cancer are described to illustrate the use of Skindex to understand quality of life and to compare effectiveness of different treatments for this highly prevalent condition. PMID:22284137

  1. The role of filaggrin in the skin barrier and disease development.

    PubMed

    Armengot-Carbo, M; Hernández-Martín, Á; Torrelo, A

    2015-03-01

    Filaggrin is a structural protein that is fundamental in the development and maintenance of the skin barrier. The function of filaggrin and its involvement in various cutaneous and extracutaneous disorders has been the subject of considerable research in recent years. Mutations in FLG, the gene that encodes filaggrin, have been shown to cause ichthyosis vulgaris, increase the risk of atopic dermatitis and other atopic diseases, and exacerbate certain conditions. The present article reviews the current knowledge on the role of filaggrin in the skin barrier, FLG mutations, and the consequences of filaggrin deficiency. PMID:24674607

  2. Skin in health and diseases in ṛgveda saṃhiṭa: an overview.

    PubMed

    Mukhopadhyay, Amiya Kumar

    2013-11-01

    Ṛgveda is the oldest religious book of the Aryans. It picturises the early lives of the Aryans. We get mention of various diseases in this Veda. Skin - both in health and diseases had caught attention of the Vedic sages. Skin was not merely an organ of attraction and look but its colour was important socially. Mentions of various diseases like leprosy, guinea worm, jaundice etc., are interesting. Mention of different disorders of the nails and hair are also there, though in a very primitive and mystic form. Management strategy was consisted of herbs, amulates, chanting of mantras, touching the body, uses of water and sunrays etc. This may be presumed that this Veda founded the base for the Āyurveda of the later period. PMID:24249889

  3. Stressed skin? - a molecular psychosomatic update on stress-causes and effects in dermatologic diseases.

    PubMed

    Peters, Eva M J

    2016-03-01

    A pathogenetically relevant link between stress, in terms of psychosocial stress, and disease was first described in the 1970s, when it was proven that viral diseases of mucous membranes (such as rhinovirus and Coxsackie virus infections) develop faster and more severe after stress exposure. Since then, there has been an annual increase in the number of publications which investigate this relationship and break it down to the molecular level. Nevertheless, the evidences for the impact of psychosocial stress on chronic inflammatory skin diseases and skin tumors are hardly known. In the present review, we outline current insights into epidemiology, psychoneuroimmunology, and molecular psychosomatics which demonstrate the manifold disease-relevant interactions between the endocrine, nervous, and immune systems. The focus is on stress-induced shifts in immune balance in exemplary disorders such as atopic dermatitis, psoriasis, and malignant melanoma. The objective of this article is to convey basic psychosomatic knowledge with respect to etiology, symptomatology, and therapeutic options for chronic skin diseases. Particular attention is directed towards the underlying molecular relationships, both from a somatic to mental as well as a mental to somatic perspective. PMID:26972185

  4. The neuroimmune connection interferes with tissue regeneration and chronic inflammatory disease in the skin.

    PubMed

    Peters, Eva M J; Liezmann, Christiane; Klapp, Burghard F; Kruse, Johannes

    2012-07-01

    Research over the past decades has revealed close interactions between the nervous and immune systems that regulate peripheral inflammation and link psychosocial stress with chronic somatic disease. Besides activation of the sympathetic and the hypothalamus-pituitary-adrenal axis, stress leads to increased neurotrophin and neuropeptide production in organs at the self-environment interface. The scope of this short review is to discuss key functions of these stress mediators in the skin, an exemplary stress-targeted and stress-sensitive organ. We will focus on the skin's response to acute and chronic stress in tissue regeneration and pathogenesis of allergic inflammation, psoriasis, and skin cancer to illustrate the impact of local stress-induced neuroimmune interaction on chronic inflammation. PMID:22823443

  5. The involvement of the JAK-STAT signaling pathway in chronic inflammatory skin disease atopic dermatitis

    PubMed Central

    Bao, Lei; Zhang, Huayi; Chan, Lawrence S

    2013-01-01

    Atopic dermatitis (AD), a common chronic inflammatory skin disease, is characterized by inflammatory cell skin infiltration. The JAK-STAT pathway has been shown to play an essential role in the dysregulation of immune responses in AD, including the exaggeration of Th2 cell response, the activation of eosinophils, the maturation of B cells, and the suppression of regulatory T cells (Tregs). In addition, the JAK-STAT pathway, activated by IL-4, also plays a critical role in the pathogenesis of AD by upregulating epidermal chemokines, pro-inflammatroy cytokines, and pro-angiogenic factors as well as by downregulating antimicrobial peptides (AMPs) and factors responsible for skin barrier function. In this review, we will highlight the recent advances in our understanding of the JAK-STAT pathway in the pathogenesis of AD. PMID:24069552

  6. Observational Study of the Genetic Architecture of Neutrophil-Mediated Inflammatory Skin Diseases

    ClinicalTrials.gov

    2014-06-11

    Other Specified Inflammatory Disorders of Skin or Subcutaneous Tissue; Pyoderma Gangrenosum; Erosive Pustular Dermatosis of the Scalp; Sweet's Syndrome; Behcet's Disease; Bowel-associated Dermatosis-arthritis Syndrome; Pustular Psoriasis; Acute Generalized Exanthematous Pustulosis; Keratoderma Blenorrhagicum; Sneddon-Wilkinson Disease; IgA Pemphigus; Amicrobial Pustulosis of the Folds; Infantile Acropustulosis; Transient Neonatal Pustulosis; Neutrophilic Eccrine Hidradenitis; Rheumatoid Neutrophilic Dermatitis; Neutrophilic Urticaria; Still's Disease; Erythema Marginatum; Unclassified Periodic Fever Syndromes / Autoinflammatory Syndromes; Dermatitis Herpetiformis; Linear IgA Bullous Dermatosis; Bullous Systemic Lupus Erythematosus; Inflammatory Epidermolysis Bullosa Aquisita; Neutrophilic Dermatosis of the Dorsal Hands (Pustular Vasculitis); Small Vessel Vasculitis Including Urticarial Vasculitis; Erythema Elevatum Diutinum; Medium Vessel Vasculitis

  7. Update on the role of plasmacytoid dendritic cells in inflammatory/autoimmune skin diseases.

    PubMed

    Saadeh, Dana; Kurban, Mazen; Abbas, Ossama

    2016-06-01

    Plasmacytoid dendritic cells (pDCs) represent a specialized dendritic cell population that exhibit plasma cell morphology, express CD4, CD123, blood-derived dendritic cell antigen-2 (BDCA-2) and Toll-like receptor (TLR)7 and TLR9 within endosomal compartments. When activated, pDCs are capable of producing large quantities of type I IFNs (mainly IFN-α/β), which provide antiviral resistance and link the innate and adaptive immunity. While generally lacking from normal skin, pDCs infiltrate the skin and appear to be involved in the pathogenesis of several inflammatory, infectious (especially viral) and neoplastic entities. In recent years, pDC role in inflammatory/autoimmune skin conditions has been extensively studied. Unlike type I IFN-mediated protective immunity that pDCs provide at the level of the skin by regulated sensing of microbial or self-nucleic acids upon skin damage, excessive sensing may elicit IFN-driven inflammatory/autoimmune diseases. In this review, focus will be on the role of pDCs in cutaneous inflammatory/autoimmune dermatoses. PMID:26837058

  8. Causative Agent of Pogosta Disease Isolated from Blood and Skin Lesions

    PubMed Central

    Manni, Tytti; Vaheri, Antti; Vapalahti, Olli

    2004-01-01

    Pogosta disease is a mosquito-borne viral disease in Finland, which is clinically manifested by rash and arthritis; larger outbreaks occur in 7-year intervals. The causative agent of the disease has been suspected of being closely related to Sindbis virus (SINV). We isolated SINV from five patients with acute Pogosta disease during an outbreak in fall 2002 in Finland. One virus strain was recovered from a whole blood sample and four other strains from skin lesions. The etiology of Pogosta disease was confirmed by these first Finnish SINV strains, which also represent the first human SINV isolates from Europe. Phylogenetic analysis indicates that the Finnish SINV strains are closely related to the viral agents isolated from mosquitoes and that cause clinically similar diseases in nearby geographic areas. PMID:15200824

  9. Water outage increases the risk of gastroenteritis and eyes and skin diseases

    PubMed Central

    2011-01-01

    Background The present study used insurance claims data to investigate infections associated with short-term water outage because of constructions or pipe breaks. Methods The present study used medical claims of one million insured persons for 2004-2006. We estimated incidences of gastroenteritis and eye and skin complaints for 10 days before, during, and after 10 days of water supply restriction for outpatient visits and for emergency and in-patient care combined. Results There was an increase in medical services for these complaints in outpatient visits because of water outages. Poisson regression analyses showed that increased risks of medical services were significant for gastroenteritis (relative risk [RR] 1.31, 95% confidence interval [CI] 1.26-1.37), skin disease (RR 1.36, 95% CI 1.30-1.42), and eye disease patients (RR 1.34, 95% CI 1.26-1.44). Similar risks were observed during 10-day lag periods. Compared with those in cool days, risks of medical services are higher when average daily temperature is above 30°C for gastroenteritis (RR 12.1, 95% CI 6.17-23.7), skin diseases (RR 4.48, 95% CI 2.29-8.78), and eye diseases (RR 40.3, 95% CI 7.23-224). Conclusion We suggest promoting personal hygiene education during water supply shortages, particularly during the warm months. PMID:21943080

  10. Skindex, a quality-of-life measure for patients with skin disease: reliability, validity, and responsiveness.

    PubMed

    Chren, M M; Lasek, R J; Quinn, L M; Mostow, E N; Zyzanski, S J

    1996-11-01

    To measure the effects of skin disease on patients' quality of life, we developed a 61-item self-administered survey instrument called Skindex. Skindex has eight scales, each of which addresses a construct, or an abstract component, in a comprehensive conceptual framework: cognitive effects, social effects, depression, fear, embarrassment, anger, physical discomfort, and physical limitations. Item responses are standardized from 0 (no effect) to 100 (maximal effect); a scale score is the average of responses to items addressing a construct. In 201 patients seen by dermatologists, mean scale scores (+/-SD) ranged from 14 (+/-17) for physical limitations to 31 (+/-22) for physical discomfort. Scale scores were reproducible after 72 h (r = 0.68-0.90) and were internally consistent (Cronbach's alpha = 0.76-0.86). Construct validity was assessed in two ways: (i) in a comparison of patients with inflammatory dermatoses and patients with isolated lesions, patients with inflammatory dermatoses had higher scale scores, and (ii) in an exploratory factor analysis, 78% of the common variance was explained by seven factors that correlated with the scale scores of Skindex. Most of the a priori scale scores changed in the expected direction in patients who reported that their skin conditions had improved or worsened after 6 mo. Finally, physicians' judgments of disease severity did not consistently correlate with Skindex scores. These preliminary data suggest that Skindex reliably and responsively measures the effects of skin disease on patients' quality of life and may supplement clinical judgments of disease severity. PMID:8875954

  11. Signalling in inflammatory skin disease by AP-1 (Fos/Jun).

    PubMed

    Uluçkan, Özge; Guinea-Viniegra, Juan; Jimenez, Maria; Wagner, Erwin F

    2015-01-01

    Skin inflammation is a physiological reaction to tissue injury, pathogen invasion and irritants. During this process, innate and/or adaptive immune cells are activated and recruited to the site of inflammation to either promote or suppress inflammation. The sequential recruitment and activation of immune cells is modulated by a combination of cytokines and chemokines, which are regulated by transcription factors, such as AP-1 (Fos/Jun), NF-κB, NFATs, and STATs. Here we review the present evidence and the underlying mechanisms of how Jun/AP-1 proteins control skin inflammation. Genetically engineered mouse models (GEMMs) in which AP-1 proteins are deleted in the epidermis have revealed that these proteins control cytokine expression at multiple levels. Constitutive epidermal deletion of JunB in mice leads to a multi-organ disease characterised by increased levels of pro-inflammatory cytokines. These JunB-deficient mutant mice display several phenotypes from skin inflammation to a G-CSF-dependent myeloproliferative disease, as well as kidney atrophy and bone loss, reminiscent of psoriasis and systemic lupus erythematosus. Importantly, epidermal deletion of both JunB and c-Jun in an inducible manner in adult mice leads to a psoriasis-like disease, in which the epidermal proteome expression profile is comparable to the one from psoriasis patient samples. In this GEMM and in psoriasis patient-derived material, S100A8/A9-dependent C3/CFB complement activation, as well as a miR-21-dependent TIMP-3/TACE pathway leading to TNF-α shedding, plays causal roles in disease development. The newly identified therapeutic targets from GEMMs together with investigations in human patient samples open up new avenues for therapeutic interventions for psoriasis and related inflammatory skin diseases. PMID:26458100

  12. α-Synuclein inclusions in the skin of Parkinson's disease and parkinsonism

    PubMed Central

    Rodríguez-Leyva, Ildefonso; Calderón-Garcidueñas, Ana Laura; Jiménez-Capdeville, María E; Rentería-Palomo, Ana Arely; Hernandez-Rodriguez, Héctor Gerardo; Valdés-Rodríguez, Rodrigo; Fuentes-Ahumada, Cornelia; Torres-Álvarez, Bertha; Sepúlveda-Saavedra, Julio; Soto-Domínguez, Adolfo; Santoyo, Martha E; Rodriguez-Moreno, José Ildefonso; Castanedo-Cázares, Juan Pablo

    2014-01-01

    Objective The presence in the brain of α-synuclein containing Lewy neurites, or bodies, is the histological hallmark of Parkinson's disease (PD). The discovery of α-synuclein aggregates in nerve endings of the heart, digestive tract, and skin has lent support to the concept of PD as a systemic disease. Our goals were, first, to demonstrate the presence of α-synuclein inclusions in the skin and, second, to detect quantitative differences between patients with PD and atypical parkinsonism (AP). Methods Skin biopsies were taken from 67 patients and 20 controls. The biopsies underwent immunohistochemistry (IHC) and immunofluorescence (IF) testing for α-synuclein, whereupon its presence was quantified as the percentage of positive cells. Patients were divided into those with PD and those with AP. AP patients included AP with neurodegenerative disease (proteinopathies) and secondary AP. Results Sixty-seven patients (34 with PD) and 20 controls were recruited. In the PD group, α-synuclein was detected in 58% of the cells in the spinous cell layer (SCL), 62% in the pilosebaceous unit (PSU), and 58% in the eccrine glands (EG). The AP-proteinopathies group showed 7%, 7%, and 0% expression of α-synuclein, respectively. No expression was found in the skin of the control group. Conclusions The expression of α-synuclein in the skin was relatively high in the PD group, scarce in AP, and null for the individuals in the control group. While these findings require further confirmation, this minimally invasive technique may aid in the improvement of the accuracy of PD diagnoses. PMID:25356418

  13. The endocannabinoid system of the skin in health and disease: novel perspectives and therapeutic opportunities

    PubMed Central

    Bíró, Tamás; Tóth, Balázs I.; Haskó, György; Paus, Ralf; Pacher, Pál

    2009-01-01

    The newly discovered endocannabinoid system (ECS; comprising the endogenous lipid mediators endocannabinoids present in virtually all tissues, their G-protein-coupled cannabinoid receptors, biosynthetic pathways and metabolizing enzymes) has been implicated in multiple regulatory functions both in health and disease. Recent studies have intriguingly suggested the existence of a functional ECS in the skin and implicated it in various biological processes (e.g. proliferation, growth, differentiation, apoptosis and cytokine, mediator or hormone production of various cell types of the skin and appendages, such as the hair follicle and sebaceous gland). It seems that the main physiological function of the cutaneous ECS is to constitutively control the proper and well-balanced proliferation, differentiation and survival, as well as immune competence and/or tolerance, of skin cells. The disruption of this delicate balance might facilitate the development of multiple pathological conditions and diseases of the skin (e.g. acne, seborrhea, allergic dermatitis, itch and pain, psoriasis, hair growth disorders, systemic sclerosis and cancer). PMID:19608284

  14. Skin as a route of exposure and sensitization in chronic beryllium disease.

    PubMed Central

    Tinkle, Sally S; Antonini, James M; Rich, Brenda A; Roberts, Jenny R; Salmen, Rebecca; DePree, Karyn; Adkins, Eric J

    2003-01-01

    Chronic beryllium disease is an occupational lung disease that begins as a cell-mediated immune response to beryllium. Although respiratory and engineering controls have significantly decreased occupational beryllium exposures over the last decade, the rate of beryllium sensitization has not declined. We hypothesized that skin exposure to beryllium particles would provide an alternative route for sensitization to this metal. We employed optical scanning laser confocal microscopy and size-selected fluorospheres to demonstrate that 0.5- and 1.0- micro m particles, in conjunction with motion, as at the wrist, penetrate the stratum corneum of human skin and reach the epidermis and, occasionally, the dermis. The cutaneous immune response to chemical sensitizers is initiated in the skin, matures in the local lymph node (LN), and releases hapten-specific T cells into the peripheral blood. Topical application of beryllium to C3H mice generated beryllium-specific sensitization that was documented by peripheral blood and LN beryllium lymphocyte proliferation tests (BeLPT) and by changes in LN T-cell activation markers, increased expression of CD44, and decreased CD62L. In a sensitization-challenge treatment paradigm, epicutaneous beryllium increased murine ear thickness following chemical challenge. These data are consistent with development of a hapten-specific, cell-mediated immune response following topical application of beryllium and suggest a mechanistic link between the persistent rate of beryllium worker sensitization and skin exposure to fine and ultrafine beryllium particles. PMID:12842774

  15. Adverse Reactions to Field Vaccination Against Lumpy Skin Disease in Jordan.

    PubMed

    Abutarbush, S M; Hananeh, W M; Ramadan, W; Al Sheyab, O M; Alnajjar, A R; Al Zoubi, I G; Knowles, N J; Bachanek-Bankowska, K; Tuppurainen, E S M

    2016-04-01

    Lumpy skin disease (LSD) is an emerging disease in the Middle East region and has been recently reported in Jordan. The aim of this study was to investigate the adverse reactions that were reported after vaccine administration. Geographical areas enrolled in the study were free of the disease and away from the outbreak governorate. Sixty-three dairy cattle farms, with a total of 19,539 animals, were included in the study. Of those, 56 farms reported adverse clinical signs after vaccine administration. The duration between vaccine administration and appearance of adverse clinical signs ranged from 1 to 20 days (Mean = 10.3, SD ± 3.9). Clinical signs were similar to those observed with natural cases of lumpy skin disease. These were mainly fever, decreased feed intake, decreased milk production and variable sized cutaneous nodules (a few millimetres to around 2 cm in diameter) that could be seen anywhere on the body (head, neck, trunk, perineum), udder, and/or teats. Nodules were raised and firm initially and then formed dry scabs that could be peeled off the skin. The characteristic deep 'sit fast' appearance was rarely seen and most lesions were superficial. Some cattle had swollen lymph nodes, while a few pregnant animals aborted. The percentage of affected cattle ranged from 0.3 to 25% (Mean = 8, SD ± 5.1). Fever, decreased feed intake, and decreased milk production were seen in 83.9, 85.7, and 94.6% in cattle on the affected farms, respectively. All affected cattle displayed skin nodules over their entire bodies, while 33.9 and 7.1% of the affected farms reported nodular lesions present on the udders and teats, respectively. No mortalities were reported due to vaccine adverse reactions. Duration (course) of clinical signs ranged from 3 to 20 days (Mean = 13.7, SD ± 4.1). Two types of LSD vaccines were used by the farmers in this study. The first one was a sheep pox virus (SPPV) vaccine derived from the RM65 isolate [Jovivac, manufactured by Jordan

  16. Staphylococcus δ-toxin promotes mouse allergic skin disease by inducing mast cell degranulation

    PubMed Central

    Nakamura, Yuumi; Oscherwitz, Jon; Cease, Kemp B.; Chan, Susana M.; Muñoz-Planillo, Raul; Hasegawa, Mizuho; Villaruz, Amer E.; Cheung, Gordon Y. C.; McGavin, Martin J.; Travers, Jeffrey B.; Otto, Michael; Inohara, Naohiro; Núñez, Gabriel

    2013-01-01

    Atopic dermatitis (AD) is a chronic inflammatory skin disease that affects 15 to 30% of children and ~5% of adults in industrialized countries1. Although the pathogenesis of AD is not fully understood, the disease is mediated by an abnormal immunoglobulin E (IgE) immune response in the setting of skin barrier dysfunction2. Mast cells (MCs) contribute to IgE-mediated allergic disorders including AD3. Upon activation, MCs release their membrane-bound cytosolic granules leading to the release of multiple molecules that are important in the pathogenesis of AD and host defense4. More than 90% of AD patients are colonized with Staphylococcus aureus in the lesional skin whereas most healthy individuals do not harbor the pathogen5. Several Staphylococcal exotoxins (SEs) can act as superantigens and/or antigens in models of AD6. However, the role of these SEs in disease pathogenesis remains unclear. Here, we report that culture supernatants of S. aureus contain potent MC degranulation activity. Biochemical analysis identified δ-toxin as the MC degranulation-inducing factor produced by S. aureus. MC degranulation induced by δ-toxin depended on phosphoinositide 3-kinase (PI3K) and calcium (Ca2+) influx, but unlike that mediated by IgE crosslinking, it did not require the spleen tyrosine kinase (Syk). In addition, IgE enhanced δ-toxin-induced MC degranulation in the absence of antigen. Furthermore, S. aureus isolates recovered from AD patients produced high levels of δ-toxin. Importantly, skin colonization with S. aureus, but not a mutant deficient in δ-toxin, promoted IgE and IL-4 production, as well as inflammatory skin disease. Furthermore, enhancement of IgE production and dermatitis by δ-toxin was abrogated in KitW-sh/W-sh MC-deficient mice and restored by MC reconstitution. These studies identify δ-toxin as a potent inducer of MC degranulation and suggest a mechanistic link between S. aureus colonization and allergic skin disease. PMID:24172897

  17. Mechanical characteristics of antibacterial epoxy resin adhesive wood biocomposites against skin disease

    PubMed Central

    Chen, Zi-xiang; Zhang, Zhong-feng; Aqma, Wan Syaidatul

    2015-01-01

    Moldy wood can cause some skin disease. However epoxy resin adhesive (EP) can inhibit mold growth. Therefore, antibacterial EP/wood biocomposites were reinforced and analyzed by the nonlinear finite element. Results show that glass fiber cloth and aluminum foil have the obvious reinforced effect under flat pressure, but this was not the case under side pressure. And when the assemble pattern was presented in 5A way, the strengthening effect was better. The nonlinear finite element showed that the aluminum foil and glass fiber cloth have the obvious reinforced effect. The mutual influence and effect of span, thickness and length on the ultimate bearing capacity of specimen were studied. And the simulation results agreed with the test. It provided a theoretical basis on the preparation of antibacterial EP/wood biocomposites against skin disease. PMID:26858557

  18. Mechanical characteristics of antibacterial epoxy resin adhesive wood biocomposites against skin disease.

    PubMed

    Chen, Zi-Xiang; Zhang, Zhong-Feng; Aqma, Wan Syaidatul

    2016-01-01

    Moldy wood can cause some skin disease. However epoxy resin adhesive (EP) can inhibit mold growth. Therefore, antibacterial EP/wood biocomposites were reinforced and analyzed by the nonlinear finite element. Results show that glass fiber cloth and aluminum foil have the obvious reinforced effect under flat pressure, but this was not the case under side pressure. And when the assemble pattern was presented in 5A way, the strengthening effect was better. The nonlinear finite element showed that the aluminum foil and glass fiber cloth have the obvious reinforced effect. The mutual influence and effect of span, thickness and length on the ultimate bearing capacity of specimen were studied. And the simulation results agreed with the test. It provided a theoretical basis on the preparation of antibacterial EP/wood biocomposites against skin disease. PMID:26858557

  19. Investigation of photothermolysis therapy of human skin diseases using optical phantoms

    NASA Astrophysics Data System (ADS)

    Jedrzejewska-Szczerska, M.; Wróbel, M. S.; Galla, S.; Popov, A. P.; Bykov, A. V.; Tuchin, V. V.; Cenian, A.

    2015-01-01

    Dermatological diseases, such as neurofibroma (Recklinghausen disease) or hemangiomas can be efficiently treated using photothermolysis from laser irradiation. We have utilized a developed 975 nm fiber diode laser as a low-cost alternative over common Nd:YAG lasers. This paper describes the investigations of interaction of 975 nm diode laser radiation-pulses with optical skin phantoms which were designed and manufactured in our laboratory. Such phantoms match the scattering and absorption coefficients of real human skin. Spatial and temporal temperature evolutions during laser irradiation with various laser settings (pulsed and CW mode), were recorded by an IR camera. Subsequent analysis yielded optimum choice of parameters for laser therapy of coetaneous lesions.

  20. Hidradenitis suppurativa: a common and burdensome, yet under-recognised, inflammatory skin disease

    PubMed Central

    Dufour, Deirdre Nathalie; Emtestam, Lennart; Jemec, Gregor B

    2014-01-01

    Hidradenitis suppurativa (HS) is a chronic, relapsing, inflammatory skin condition that typically occurs after puberty. The primary clinical presentation is painful inflamed nodules or boils in the apocrine gland-bearing regions (armpits, genital area, groin, breasts and buttocks/anus) that progress to abscesses, sinus tracts and scarring. Severity is typically described according to three Hurley categories, with most patients having mild or moderate disease. Estimated prevalence is 1–4% worldwide and HS is three times more common in women than men. Patients’ disease burden includes intense pain, work disability and overall poor quality of life. Although the clinical signs of the disease can often be hidden by clothing, active HS is associated with a malodorous discharge that contributes to the disabling social stigma. Risk factors include smoking and obesity. Comorbidities include inflammatory bowel disease and spondyloarthropathies. The presentation of the disease is distinct, yet HS is not well-recognised except in dermatology clinics. PMID:24567417

  1. ‘…Re-written in the skin’ – Clues to skin biology and aging from inherited disease

    PubMed Central

    Monnat, Raymond J.

    2015-01-01

    The growing diversity of heritable skin diseases, a practical challenge to clinicians and dermatonosologists alike, has nonetheless served as a rich source of insight into skin biology and disease mechanisms. I summarize below some key insights from the recent gene-driven phase of research on Werner syndrome, a heritable adult progeroid syndrome with prominent dermatologic features, constitutional genomic instability and an elevated risk of cancer. I also indicate how new insights into skin biology, disease and aging may come from unexpected sources. PMID:25810110

  2. Patterns of skin disease in a sample of the federal prison population: a retrospective chart review

    PubMed Central

    Gavigan, Geneviève; McEvoy, Alana; Walker, James

    2016-01-01

    Background: Dermatology in vulnerable populations is under-researched. Our objective was to analyze the most commonly referred skin diseases affecting the Correctional Service Canada inmates in Ontario. Methods: An observational, cross-sectional, retrospective chart review of inmate patients seen from 2008 until 2013 was performed. Two groups of patients were included in the analysis: those assessed in-person, and those evaluated by e-consult. Results: In the in-person patient group, the 3 most common diagnoses were acne, psoriasis and other superficial mycoses. For the e-consult group, the 3 most frequent diagnoses were acne, psoriasis and rosacea. There was a clear bias toward more inmates being seen in-person where the service was provided (Collins Bay Institution) than from other correctional institutions in Eastern Ontario. Interpretation: Most of the skin diseases that affected the incarcerated population studied were common afflictions, similar to those affecting the general population, which is in agreement with other studies. Future studies investigating skin diseases in male and female inmates across Canada would bestow more generalizable data. PMID:27398381

  3. Quality of life in patients with skin diseases in central Saudi Arabia

    PubMed Central

    Abolfotouh, Mostafa A; Al-Khowailed, Mohammad S; Suliman, Wijdan E; Al-Turaif, Deema A; Al-Bluwi, Eman; Al-Kahtani, Hassan S

    2012-01-01

    Background Previous national and international studies of quality of life (QoL) in patients with skin diseases have revealed different levels of QoL impairment. The aims of this study were to assess QoL in patients with skin diseases in central Saudi Arabia using the newly validated Skindex-16 instrument and to determine the association between QoL in patients with skin disease, sociodemographic data, and disease characteristics. Methods A cross-sectional study was conducted in 283 adult patients who visited the outpatient dermatology clinics of King Abdulaziz Medical City, Riyadh, Saudi Arabia, over 3 months. The patients were interviewed using a pretested Arabic version of the Skindex-16 to measure the effect of skin disorders on their QoL during the previous 7 days. Patient characteristics, medical history, and clinical findings were collected. Multiple linear regression analyses were used to relate the demographic and clinical characteristics to the percentage mean QoL score, and P ≤ 0.05 was considered to be statistically significant. Results QoL was good in 69% of the respondents, with a total percent mean score of 31.80 ± 20.16. The emotional domain was the most affected (mean percentage score 44.27 ± 27.06), followed by symptoms (31.45 ± 28.40) and functioning (14.61 ± 22.75). After adjustment for potential confounders, poorer QoL was significantly associated with female gender (P = 0.03), older age (P = 0.003), rural origin (P = 0.03), positive family history of the same lesion(s) (P = 0.01), shorter duration of ≤6 months (P = 0.02), generalized spread (P ≤ 0.02), and lack of isotretinoin treatment (P = 0.02). Conclusion . The QoL results in this study were generally more optimistic than those of many previous studies. This discrepancy may be due to biases in questionnaire responses or to cultural differences in experience of skin disease and perception of disability. Significant predictors of QoL were not the same for the three domains of the

  4. Puffy Skin Disease Is an Emerging Transmissible Condition in Rainbow Trout Oncorhynchus mykiss Walbaum

    PubMed Central

    Cano, Irene; Verner-Jeffreys, David W.; van Aerle, Ronny; Paley, Richard K.; Peeler, Edmund J.; Green, Matthew; Rimmer, Georgina S. E.; Savage, Jacqueline; Joiner, Claire L.; Bayley, Amanda E.; Mewett, Jason; Hulland, Jonathan; Feist, Stephen W.

    2016-01-01

    The transmission of puffy skin disease (PSD) to rainbow trout Oncorhynchus mykiss Walbaum was tested in the laboratory by conducting co-habitation challenges with puffy skin (PS)-affected fish (Trojans) collected from the field. Two separate challenges were conducted using Trojans sourced from two different sites and diploid (first trial) or triploid (second trial) naïve fish. PSD-specific clinical signs were observed in both groups of naïve fish, with 66% of the fish sampled during the challenges showing signs of varying severity. The first clinical features of PSD were presented as white oval skin patches on one or both flanks 15–21 days post-challenge (dpc). The extent of the lesions ranged from 10 to 90% of the body surface, depending on the severity of the lesion. Both the severity and number of affected fish increased during the challenge. Macroscopically, oedema of the skin and multifocal petechial haemorrhaging were observed towards the end of the trials. Abnormal fish behaviour consisting of “flashing” and excessive mucous production was noted from 15 dpc onwards. Fish with severe PSD lesions also displayed inappetence and associated emaciation. Rodlet cells were observed in 41% of the fresh skin scrapes analysed from the second trial. Histologically epidermal oedema was observed in 31% of the naive fish showing gross pathology, with additional 12% displaying epidermal hyperplasia, mostly observed at the end of the challenge. Other concomitant features of the PSD lesions in challenged fish were epithelial erosion and sloughing, and occasionally mild or focal inflammation. No consistent pathology of internal organs was observed. The parasites Ichthyophthirius multifiliis and Ichthyobodo necator were observed in skin samples of a proportion of naïve challenged fish and in Trojans but not in control fish. The presence of these and other known fish pathogens in the skin of PSD-fish was confirmed by high-throughput sequencing analysis. In summary, we

  5. Puffy Skin Disease Is an Emerging Transmissible Condition in Rainbow Trout Oncorhynchus mykiss Walbaum.

    PubMed

    Cano, Irene; Verner-Jeffreys, David W; van Aerle, Ronny; Paley, Richard K; Peeler, Edmund J; Green, Matthew; Rimmer, Georgina S E; Savage, Jacqueline; Joiner, Claire L; Bayley, Amanda E; Mewett, Jason; Hulland, Jonathan; Feist, Stephen W

    2016-01-01

    The transmission of puffy skin disease (PSD) to rainbow trout Oncorhynchus mykiss Walbaum was tested in the laboratory by conducting co-habitation challenges with puffy skin (PS)-affected fish (Trojans) collected from the field. Two separate challenges were conducted using Trojans sourced from two different sites and diploid (first trial) or triploid (second trial) naïve fish. PSD-specific clinical signs were observed in both groups of naïve fish, with 66% of the fish sampled during the challenges showing signs of varying severity. The first clinical features of PSD were presented as white oval skin patches on one or both flanks 15-21 days post-challenge (dpc). The extent of the lesions ranged from 10 to 90% of the body surface, depending on the severity of the lesion. Both the severity and number of affected fish increased during the challenge. Macroscopically, oedema of the skin and multifocal petechial haemorrhaging were observed towards the end of the trials. Abnormal fish behaviour consisting of "flashing" and excessive mucous production was noted from 15 dpc onwards. Fish with severe PSD lesions also displayed inappetence and associated emaciation. Rodlet cells were observed in 41% of the fresh skin scrapes analysed from the second trial. Histologically epidermal oedema was observed in 31% of the naive fish showing gross pathology, with additional 12% displaying epidermal hyperplasia, mostly observed at the end of the challenge. Other concomitant features of the PSD lesions in challenged fish were epithelial erosion and sloughing, and occasionally mild or focal inflammation. No consistent pathology of internal organs was observed. The parasites Ichthyophthirius multifiliis and Ichthyobodo necator were observed in skin samples of a proportion of naïve challenged fish and in Trojans but not in control fish. The presence of these and other known fish pathogens in the skin of PSD-fish was confirmed by high-throughput sequencing analysis. In summary, we have

  6. Epidermal parasitic skin diseases: a neglected category of poverty-associated plagues

    PubMed Central

    Heukelbach, Jorg

    2009-01-01

    Abstract Epidermal parasitic skin diseases (EPSD) are a heterogeneous category of infectious diseases in which parasite–host interactions are confined to the upper layer of the skin. The six major EPSD are scabies, pediculosis (capitis, corporis and pubis), tungiasis and hookworm-related cutaneous larva migrans. We summarize the current knowledge on EPSD and show that these diseases are widespread, polyparasitism is common, and significant primary and secondary morbidity occurs. We show that poverty favours the presence of animal reservoirs, ensures ongoing transmission, facilitates atypical methods of spreading infectious agents and increases the chances of exposure. This results in an extraordinarily high prevalence and intensity of infestation of EPSD in resource-poor populations. Stigma, lack of access to health care and deficient behaviour in seeking health care are the reasons why EPSD frequently progress untreated and why in resource-poor populations severe morbidity is common. The ongoing uncontrolled urbanization in many developing countries makes it likely that EPSD will remain the overriding parasitic diseases for people living in extreme poverty. We advocate integrating control of EPSD into intervention measures directed against other neglected diseases such as filariasis and intestinal helminthiases. PMID:19274368

  7. Topical PDT in the Treatment of Benign Skin Diseases: Principles and New Applications.

    PubMed

    Kim, Miri; Jung, Haw Young; Park, Hyun Jeong

    2015-01-01

    Photodynamic therapy (PDT) uses a photosensitizer, light energy, and molecular oxygen to cause cell damage. Cells exposed to the photosensitizer are susceptible to destruction upon light absorption because excitation of the photosensitizing agents leads to the production of reactive oxygen species and, subsequently, direct cytotoxicity. Using the intrinsic cellular heme biosynthetic pathway, topical PDT selectively targets abnormal cells, while preserving normal surrounding tissues. This selective cytotoxic effect is the basis for the use of PDT in antitumor treatment. Clinically, PDT is a widely used therapeutic regimen for oncologic skin conditions such as actinic keratosis, squamous cell carcinoma in situ, and basal cell carcinoma. PDT has been shown, under certain circumstances, to stimulate the immune system and produce antibacterial, and/or regenerative effects while protecting cell viability. Thus, it may be useful for treating benign skin conditions. An increasing number of studies support the idea that PDT may be effective for treating acne vulgaris and several other inflammatory/infective skin diseases, including psoriasis, rosacea, viral warts, and aging-related changes. This review provides an overview of the clinical investigations of PDT and discusses each of the essential aspects of the sequence: its mechanism of action, common photosensitizers, light sources, and clinical applications in dermatology. Of the numerous clinical trials of PDT in dermatology, this review focuses on those studies that have reported remarkable therapeutic benefits following topical PDT for benign skin conditions such as acne vulgaris, viral warts, and photorejuvenation without causing severe side effects. PMID:26404243

  8. Topical PDT in the Treatment of Benign Skin Diseases: Principles and New Applications

    PubMed Central

    Kim, Miri; Jung, Haw Young; Park, Hyun Jeong

    2015-01-01

    Photodynamic therapy (PDT) uses a photosensitizer, light energy, and molecular oxygen to cause cell damage. Cells exposed to the photosensitizer are susceptible to destruction upon light absorption because excitation of the photosensitizing agents leads to the production of reactive oxygen species and, subsequently, direct cytotoxicity. Using the intrinsic cellular heme biosynthetic pathway, topical PDT selectively targets abnormal cells, while preserving normal surrounding tissues. This selective cytotoxic effect is the basis for the use of PDT in antitumor treatment. Clinically, PDT is a widely used therapeutic regimen for oncologic skin conditions such as actinic keratosis, squamous cell carcinoma in situ, and basal cell carcinoma. PDT has been shown, under certain circumstances, to stimulate the immune system and produce antibacterial, and/or regenerative effects while protecting cell viability. Thus, it may be useful for treating benign skin conditions. An increasing number of studies support the idea that PDT may be effective for treating acne vulgaris and several other inflammatory/infective skin diseases, including psoriasis, rosacea, viral warts, and aging-related changes. This review provides an overview of the clinical investigations of PDT and discusses each of the essential aspects of the sequence: its mechanism of action, common photosensitizers, light sources, and clinical applications in dermatology. Of the numerous clinical trials of PDT in dermatology, this review focuses on those studies that have reported remarkable therapeutic benefits following topical PDT for benign skin conditions such as acne vulgaris, viral warts, and photorejuvenation without causing severe side effects. PMID:26404243

  9. Advanced glycation end-products and skin autofluorescence in end-stage renal disease: a review.

    PubMed

    Arsov, Stefan; Graaff, Reindert; van Oeveren, Wim; Stegmayr, Bernd; Sikole, Aleksandar; Rakhorst, Gerhard; Smit, Andries J

    2014-01-01

    Chronic kidney disease (CKD), especially in its end stage, is marked by extremely high cardiovascular rates of morbidity and mortality; hemodialysis patients have a five-fold shorter life expectancy than healthy subjects of the same age. In CKD the metabolic products that accumulate in the body are so-called uremic toxins. These include advanced glycation end-products (AGE). AGE levels are markedly increased in CKD patients not only because of impaired excretion but also because of increased production. AGE formation has initially been described as a non-enzymatic reaction between proteins and glucose in the so-called Maillard reaction, but they are also more rapidly formed during oxidative stress and subsequent formation of reactive carbonyl compounds like (methyl)glyoxal. AGE accumulate in tissue where they cross-link with proteins, e.g., collagen, inducing tissue stiffening of blood vessels and skin. They may also interact with receptor of AGE (RAGE) and other receptors, which lead to activation of intracellular transduction mechanisms resulting in cytokine release and further tissue damage in CKD. The accumulation of AGE in the skin can be measured non-invasively using autofluorescence. The skin autofluorescence is a strong marker of cardiovascular mortality in CKD. The focus of this review is on the role of tissue and plasma AGE, and of skin autofluorescence as a proxy of tissue AGE accumulation, in the increase in cardiovascular disease in end stage renal disease (ESRD). This review will also present the possibility of reducing the AGE accumulation in ESRD patients using the following five methods: 1) use of low AGE peritoneal dialysis solutions; 2) use of advanced hemodialysis techniques; 3) use of AGE reducing drugs; 4) optimizing the nutrition of hemodialysis patients; and 5) renal transplantation. PMID:23612551

  10. Prevalence of skin diseases in female prisoners in Turkey: analysis of impact of prison conditions and psychological stress.

    PubMed

    Kocatürk, Emek; Kocatürk, Asiye; Kavala, Mukaddes

    2014-01-01

    Prisons have been studied as communal places where risk of contagious diseases and dermatological diseases associated with stress are more frequent. We aimed to investigate the prevalence of skin diseases in female prisoners with special focus on psychological stress. We held a day-time dermatology polyclinic for 6-weeks. The patients were given Beck Depression Inventory (BDI) and a questionnaire on the psychological impact of skin disease. A total of 383 female prisoners were examined; 41 dermatological diseases were diagnosed. Acne was the most prevalent condition (34%), followed by hair loss (19%), dry skin (16%), and eczema (12%). Thirty-six percent of the prisoners felt embarrassed, 34% felt anxious, and 45% felt sad about their skin disease. Fourty seven of the responders were found to be in severe depression according to BDI responses. We could not find any association between BDI results and any kind of skin disease diagnosed in inmates. Our study demonstrates that prisoners have benign and common skin conditions similar to those in the general population. PMID:24813838

  11. What is the discrepancy between drug permeation into/across intact and diseased skins? Atopic dermatitis as a model.

    PubMed

    Fang, Yi-Ping; Yang, Sien-Hung; Lee, Chih-Hung; Aljuffali, Ibrahim A; Kao, Hsiao-Ching; Fang, Jia-You

    2016-01-30

    The discrepancy in drug absorption between healthy and diseased skins is an issue that needs to be elucidated. The present study attempted to explore the percutaneous absorption of drugs via lesional skin by using atopic dermatitis (AD) as a model. Tape-stripping and ovalbumin (OVA) sensitization induced AD-like skin. The lesions were evaluated by physiological parameters, histology, cytokines, and differentiation proteins. The permeants of tacrolimus, 8-methoxypsoralen, methotrexate, and dextran were used to examine in vitro and in vivo cutaneous permeation. Transepidermal water loss (TEWL) increased from 5.2 to 27.4 g/m(2)/h by OVA treatment. AD-like lesions were characterized by hyperplasia, skin redness, desquamation, and infiltration of inflammatory cells. Repeated OVA challenge produced a T-helper 2 (Th2) hypersensitivity accompanied by downregulation of filaggrin, involucrin, and integrin β. Tacrolimus, the most lipophilic permeant, revealed an increase of cutaneous deposition by 2.7-fold in AD-like skin compared to intact skin. The transdermal flux of methotrexate and dextran, the hydrophilic permeants, across AD-like skin increased about 18 times compared to the control skin. Surprisingly, AD-like skin showed less skin deposition of 8-methoxypsoralen than intact skin. This may be because the deficient lipids in the atopic-affected stratum corneum (SC) diminished drug partitioning into the superficial skin layer. The fluorescence and confocal microscopic images demonstrated a broad and deep passage of small-molecular and macromolecular dyes into AD-like skin. The results obtained from this report were advantageous for showing how the lesional skin influenced percutaneous absorption. PMID:26657274

  12. Acne: a new model of immune-mediated chronic inflammatory skin disease.

    PubMed

    Antiga, E; Verdelli, A; Bonciani, D; Bonciolini, V; Caproni, M; Fabbri, P

    2015-04-01

    Acne is a chronic inflammatory disease of the sebaceous-pilosebaceous unit. Interestingly, inflammation can be detected by histopathological examination and immuohistochemical analysis even in the apparently non-inflammatory acneic lesions, such as comedones. In the last years, it has been clearly demonstrated that acne development is linked to the combination of predisposing genetic factors and environmental triggers, among which a prominent role is played by the follicular colonization by Propionibacterium acnes (P. acnes). P. acnes displays several activities able to promote the development of acne skin lesions, including the promotion of follicular hyperkeratinisation, the induction of sebogenesis, and the stimulation of an inflammatory response by the secretion of proinflammatory molecules and by the activation of innate immunity, that is followed by a P. acnes-specific adaptive immune response. In addition, P. acnes-independent inflammation mediated by androgens or by a neurogenic activation, followed by the secretion in the skin of pro-inflammatory neuropeptides, can occur in acne lesions. In conclusion, acne can be considered as a model of immune-mediated chronic inflammatory skin disease, characterized by an innate immune response that is not able to control P. acnes followed by a Th1-mediated adaptive immune response, that becomes self-maintaining independently from P. acnes itself. PMID:25876146

  13. Cutaneous Surgical Denervation: A Method for Testing the Requirement for Nerves in Mouse Models of Skin Disease.

    PubMed

    Peterson, Shelby C; Brownell, Isaac; Wong, Sunny Y

    2016-01-01

    Cutaneous somatosensory nerves function to detect diverse stimuli that act upon the skin. In addition to their established sensory roles, recent studies have suggested that nerves may also modulate skin disorders including atopic dermatitis, psoriasis and cancer. Here, we describe protocols for testing the requirement for nerves in maintaining a cutaneous mechanosensory organ, the touch dome (TD). Specifically, we discuss methods for genetically labeling, harvesting and visualizing TDs by whole-mount staining, and for performing unilateral surgical denervation on mouse dorsal back skin. Together, these approaches can be used to directly compare TD morphology and gene expression in denervated as well as sham-operated skin from the same animal. These methods can also be readily adapted to examine the requirement for nerves in mouse models of skin pathology. Finally, the ability to repeatedly sample the skin provides an opportunity to monitor disease progression at different stages and times after initiation. PMID:27404892

  14. Skin diseases and conditions among students of a medical college in southern India

    PubMed Central

    Joseph, Nitin; Kumar, Ganesh S; Nelliyanil, Maria

    2014-01-01

    Introduction: Skin diseases are a common problem among young adults. There is paucity of data about it among medical students. This study aimed to find out the pattern of skin disorders and to describe their association with various socio-demographic factors among medical students. Materials and Methods: This cross-sectional study was conducted in June 2011 in a medical college in Mangalore, Karnataka. Two-hundred and seventy eight medical students were chosen from the 4th, 6th and 8th semester through convenient sampling method. Data on hair and skin morbidities suffered over past 1 year and its associated factors were collected using a self-administered questionnaire. Results: Most of the participants 171 (61.5%) were of the age group 20-21 years and majority were females 148 (53.2%). The most common hair/skin morbidities suffered in the past one year were acne 185 (66.6%), hair loss 165 (59.3%), and sun tan 147 (52.9%). Fungal infection (P = 0.051) and severe type of acne (P = 0.041) were seen significantly more among males while hair morbidities like hair loss (P = 0.003), split ends of hairs (P < 0.0001) and dandruff (P =0.006) were seen significantly more among female students. Patterned baldness (P = 0.018) and sun tan (P < 0.0001) were significantly more among non-Mangalorean students than native Mangaloreans. Presence of dandruff was significantly associated with hair loss (P = 0.039) and usage of sunscreen was found to protect from developing sun tans (P = 0.049). Conclusion: Skin disorders, particularly the cosmetic problems are very common among medical students. Gender and place of origin were found to significantly influence the development of certain morbidities. PMID:24616849

  15. Cowden's Disease: Familial Goiter and Skin Hamartomas—A Report of Three Cases

    PubMed Central

    Sogol, Paul B.; Sugawara, Masahiro; Gordon, H. Earl; Shellow, William V. R.; Hernandez, Felix; Hershman, Jerome M.

    1983-01-01

    Multiple hamartoma syndrome (Cowden's disease) consists of characteristic skin lesions of the face, mucous membranes and distal extremities in association with a variety of benign and malignant internal tumors, especially of the thyroid and breast. We describe a family in which the father, daughter and son were found to have goiter associated with the skin lesions of Cowden's disease. Review of the 40 reported cases of this syndrome indicates that thyroid disease occurs in two thirds of patients with Cowden's disease and most often presents as goiter at an early age. Thyroid cancer has occurred in only three (7.5%) of the patients. Surgical removal of the large goiter of the son showed that it was composed of multiple encapsulated follicular adenomas and a few areas of lymphocytic thyroiditis. Studies of the thyroid tissue showed that peroxidase activity was decreased, the thyroglobulin had a reduced content of thyroxine and triiodothyronine (perhaps due to the therapeutic suppression of thyroid-stimulating hormone) and thyroxine 5'-monodeiodinase was greatly increased; increased outer ring monodeiodinase activity may be a characteristic of human follicular adenomas. Images PMID:6636746

  16. Toward the first class of suicide inhibitors of kallikreins involved in skin diseases.

    PubMed

    Tan, Xiao; Soualmia, Feryel; Furio, Laetitia; Renard, Jean-François; Kempen, Isabelle; Qin, Lixian; Pagano, Maurice; Pirotte, Bernard; El Amri, Chahrazade; Hovnanian, Alain; Reboud-Ravaux, Michèle

    2015-01-22

    The inhibition of kallikreins 5 and 7, and possibly kallikrein 14 and matriptase, (that initiates the kallikrein proteolytic cascade) constitutes an innovative way to treat some skin diseases such as Netherton syndrome. We present here the inhibitory properties of coumarin-3-carboxylate derivatives against these enzymes. Our small collection of these versatile organic compounds was enriched by newly synthesized derivatives in order to obtain molecules selective against one, two, three enzymes or acting on the four ones. We evidenced a series of compounds with IC50 values in the nanomolar range. A suicide mechanism was observed against kallikrein 7 whereas the inactivation was either definitive (suicide type) or transient for kallikreins 5 and 14, and matriptase. Most of these potent inhibitors were devoid of cytotoxicity toward healthy human keratinocytes. In situ zymography investigations on skin sections from human kallikrein 5 transgenic mouse revealed significant reduction of the global proteolytic activity by several compounds. PMID:25489658

  17. A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients

    NASA Astrophysics Data System (ADS)

    Alharbi, Fahad J.; Geberhiwot, Tarekegn; Hughes, Derralynn A.; Ward, Douglas G.

    2016-04-01

    Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs. Globotriaosylceramide (Gb3) and its isoforms and analogues have been identified and quantified as biomarkers of disease severity and treatment efficacy. The current study aimed to establish rapid methods for urinary Gb3 extraction and quantitation. Urine samples from 15 Fabry patients and 21 healthy control subjects were processed to extract Gb3 by mixing equal volumes of urine, methanol containing an internal standard, and chloroform followed by sonication and centrifugation. Thereafter, the lower phase was analyzed by MALDI-TOF MS and the relative peak areas of the internal standard and four major species of Gb3 determined. The results showed high reproducibility with intra- and inter-assay coefficients variation of 9.9% and 13.7%, respectively. The limit of detection was 0.15 ng/μL and the limit of quantitation was 0.30 ng/μL. Total urinary Gb3 levels in both genders of classic Fabry patients were significantly higher than in healthy controls (p < 0.0001). Gb3 levels in Fabry males were higher than in Fabry females (p = 0.08). We have established a novel assay for urinary total Gb3 that takes less than 15 min from start to finish.

  18. A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients.

    PubMed

    Alharbi, Fahad J; Geberhiwot, Tarekegn; Hughes, Derralynn A; Ward, Douglas G

    2016-04-01

    Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in the accumulation of glycosphingolipids in various organs. Globotriaosylceramide (Gb3) and its isoforms and analogues have been identified and quantified as biomarkers of disease severity and treatment efficacy. The current study aimed to establish rapid methods for urinary Gb3 extraction and quantitation. Urine samples from 15 Fabry patients and 21 healthy control subjects were processed to extract Gb3 by mixing equal volumes of urine, methanol containing an internal standard, and chloroform followed by sonication and centrifugation. Thereafter, the lower phase was analyzed by MALDI-TOF MS and the relative peak areas of the internal standard and four major species of Gb3 determined. The results showed high reproducibility with intra- and inter-assay coefficients variation of 9.9% and 13.7%, respectively. The limit of detection was 0.15 ng/μL and the limit of quantitation was 0.30 ng/μL. Total urinary Gb3 levels in both genders of classic Fabry patients were significantly higher than in healthy controls (p < 0.0001). Gb3 levels in Fabry males were higher than in Fabry females (p = 0.08). We have established a novel assay for urinary total Gb3 that takes less than 15 min from start to finish. Graphical Abstract ᅟ. PMID:26797827

  19. Vaccinia viruses isolated from skin infection in horses produced cutaneous and systemic disease in experimentally infected rabbits.

    PubMed

    Cargnelutti, Juliana Felipetto; Schmidt, Candice; Masuda, Eduardo Kenji; Nogueira, Paula Rochelle Kurrle; Weiblen, Rudi; Flores, Eduardo Furtado

    2012-10-01

    The susceptibility of rabbits to two isolates of Vaccinia virus (VACV) recovered from cutaneous disease in horses in Southern Brazil was investigated. Rabbits were inoculated in the ear skin with both VACV isolates, either in single or mixed infection. All inoculated animals presented local skin lesions characterized by hyperaemia, papules, vesicles, pustules and ulcers. Infectious virus was detected in the lungs and intestine of rabbits that died during acute disease. Histological examination of the skin revealed changes characteristic of those associated with members of the genus Orthopoxvirus. These results demonstrate that rabbits develop skin disease accompanied by systemic signs upon intradermal inoculation of these two equine VACV isolates, either alone or in combination, opening the way for using rabbits to study selected aspects of the biology and pathogenesis of VACV infection. PMID:22244689

  20. Innate immunity and the role of the antimicrobial peptide cathelicidin in inflammatory skin disease

    PubMed Central

    Roby, Keith D; Nardo, Anna Di

    2013-01-01

    Cathelicidin antimicrobial peptide is an important mediator of the innate immune response. In addition to its potent antimicrobial activity, cathelicidin has been shown to have chemoattractant and angiogenic properties. Recent research has demonstrated that, in addition to its aforementioned functions, cathelicidin plays an important role in the complex pathogenesis of several chronic inflammatory skin diseases. This review will present a concise overview of the role of cathelicidin in infection and in the development of atopic dermatitis, psoriasis, and rosacea. This understanding will direct future research efforts to identify therapeutic approaches that use cathelicidin as a novel drug itself, or aim to modify its expression and regulation. PMID:24489580

  1. A review of nicotinamide: treatment of skin diseases and potential side effects.

    PubMed

    Rolfe, Heidi M

    2014-12-01

    Nicotinamide, also known as niacinamide, is the amide form of vitamin B3. It is a precursor of essential coenzymes for numerous reactions in the body including adenosine triphosphate (ATP) production. Nicotinic acid, also known as niacin, is converted into nicotinamide in the body. The use of topical nicotinamide in the treatment of acne vulgaris; melasma; atopic dermatitis; rosacea; and oral nicotinamide in preventing nonmelanoma skin cancer is discussed. The possible side effects and consequences of excessive nicotinamide exposure are reviewed, including suggestions nicotinamide might have a role in the development of diabetes, Parkinson's disease, and liver damage. PMID:25399625

  2. Interleukin-17 inhibitors. A new era in treatment of psoriasis and other skin diseases

    PubMed Central

    Wasilewska, Agnieszka; Winiarska, Marta; Olszewska, Małgorzata

    2016-01-01

    Psoriasis is a chronic skin disease caused by the excessive secretion of inflammatory cytokines. Available therapeutic options include biologic drugs such as tumor necrosis factor alpha inhibitors and interleukin 12/23 (IL-12/23) inhibitors. The recent discovery of IL-17, which contributes to development of psoriasis, opened new possibilities for further treatment modalities. Currently, one anti-IL17 biological agent is approved for the treatment – a fully human monoclonal antibody that targets IL-17A (secukinumab). Further clinical trials, including a humanized IgG4 specific for IL-17 (ixekizumab) and a fully human antibody that targets the IL-17 receptor A (brodalumab). PMID:27605893

  3. Interleukin-17 inhibitors. A new era in treatment of psoriasis and other skin diseases.

    PubMed

    Wasilewska, Agnieszka; Winiarska, Marta; Olszewska, Małgorzata; Rudnicka, Lidia

    2016-08-01

    Psoriasis is a chronic skin disease caused by the excessive secretion of inflammatory cytokines. Available therapeutic options include biologic drugs such as tumor necrosis factor alpha inhibitors and interleukin 12/23 (IL-12/23) inhibitors. The recent discovery of IL-17, which contributes to development of psoriasis, opened new possibilities for further treatment modalities. Currently, one anti-IL17 biological agent is approved for the treatment - a fully human monoclonal antibody that targets IL-17A (secukinumab). Further clinical trials, including a humanized IgG4 specific for IL-17 (ixekizumab) and a fully human antibody that targets the IL-17 receptor A (brodalumab). PMID:27605893

  4. Mathematical modeling of temperature mapping over skin surface and its implementation in thermal disease diagnostics.

    PubMed

    Deng, Zhong-Shan; Liu, Jing

    2004-09-01

    In non-invasive thermal diagnostics, accurate correlations between the thermal image on skin surface and interior human pathophysiology are often desired, which require general solutions for the bioheat equation. In this study, the Monte Carlo method was implemented to solve the transient three-dimensional bio-heat transfer problem with non-linear boundary conditions (simultaneously with convection, radiation and evaporation) and space-dependent thermal physiological parameters. Detailed computations indicated that the thermal states of biological bodies, reflecting physiological conditions, could be correlated to the temperature or heat flux mapping recorded at the skin surface. The effect of the skin emissivity and humidity, the convective heat transfer coefficient, the relative humidity and temperature of the surrounding air, the metabolic rate and blood perfusion rate in the tumor, and the tumor size and number on the sensitivity of thermography are comprehensively investigated. Moreover, several thermal criteria for disease diagnostic were proposed based on statistical principles. Implementations of this study for the clinical thermal diagnostics are discussed. PMID:15265721

  5. Impact of daily cooling treatment on skin inflammation in patients with chronic venous disease

    PubMed Central

    Mueller, Martina; King, Dana E.; Madisetti, Mohan; Prentice, Margie

    2015-01-01

    People with chronic venous disease are at high risk for developing venous leg ulcers. Inflammation is posited as a pathological factor for this chronic condition as evidenced by persistently elevated skin temperature. As part of a larger trial to test the effects of a cooling regimen on leg ulcer prevention, the objective of this preliminary study was to evaluate the first 30 days of intense daily cooling. Compared to a placebo control cuff, a gel cuff applied to the most severely affected lower leg skin for 30 minutes daily showed no statistically significant differences between temperatures taken in the home at baseline compared to those measured at the 1 month follow up visit. There were also no differences in temperatures noted between the two groups, although the temperatures in the treatment group were lower 30 minutes after treatment, an indication of adherence. There was no discernable decrease or increase in temperature at a given time point during the 30 day treatment period compared to the control group. It may be better to have patients monitor skin temperature on a daily basis and then apply the cuff as necessary, rather than requiring daily cooling based on baseline measurement. This “prn” approach may provide a sufficient cooling milieu to prevent escalation of inflammation and thwart ulcer occurrence or recurrence. Clinical trials registration #NCT01509599 PMID:25703058

  6. Advances in allergic skin disease, anaphylaxis, and hypersensitivity reactions to foods, drugs, and insects in 2013.

    PubMed

    Sicherer, Scott H; Leung, Donald Y M

    2014-02-01

    This review highlights some of the research advances in anaphylaxis; hypersensitivity reactions to foods, drugs, and insects; and allergic skin diseases that were reported in the Journal in 2013. Studies on food allergy suggest that (1) 7.6% of the US population is affected, (2) a "healthy" early diet might prevent food allergy, (3) the skin might be an important route of sensitization, (4) allergen component testing might aid diagnosis, (5) the prognosis of milk allergy might be predictable through early testing, (6) oral or sublingual immunotherapy show promise but also have caveats, and (7) preclinical studies show promising alternative modes of immunotherapy and desensitization. Studies on eosinophilic esophagitis show a relationship to connective tissue disorders and that dietary management is an effective treatment for adults. Markers of anaphylaxis severity have been determined and might inform potential diagnostics and therapeutic targets. Insights on serum tests for drug and insect sting allergy might result in improved diagnostics. Genetic and immune-mediated defects in skin epithelial differentiation contribute to the severity of atopic dermatitis. Novel management approaches to treatment of chronic urticaria, including use of omalizumab, are being identified. PMID:24373349

  7. A longitudinal application of three health behaviour models in the context of skin protection behaviour in individuals with occupational skin disease.

    PubMed

    Matterne, Uwe; Diepgen, Thomas L; Weisshaar, Elke

    2011-09-01

    Occupational skin disease (OSD) is common, associated with poor prognosis and poses a significant burden to the individual and society. We applied the theory of planned behaviour (TPB), the prototype-willingness model (PWM) and the health action process approach (HAPA) to the prediction and explanation of occupationally relevant skin protection behaviour in individuals with OSD. We used a longitudinal design. In this study, 150 individuals participating in a 3-week inpatient tertiary prevention programme completed measures assessing the constructs of the TPB, PWM and HAPA at admission (T 0), discharge (T 1) and once the individual had returned to work and worked for 4 consecutive weeks (T 2) (n = 117). Intention was measured at T 0 and skin protection behaviour at T 2. Path analysis was used to assess the longitudinal associations of the models' constructs with intention and skin protection behaviour. TPB as well as PWM variables accounted for 30% of variance in behaviour, HAPA variables for 33%. While not all predictions were confirmed by the data, all three models are able to inform us about the formation of skin protection intention and behaviour in individuals with OSD. The findings are discussed in light of future interventions and research. PMID:21678190

  8. Skin Diseases: Skin Health and Skin Diseases

    MedlinePlus

    ... suggest over-the-counter (OTC) or prescription drugs. Eczema © 2008 Logical Images, Inc. Eczema —Also known as atopic dermatitis, this is a ... Currently, there is no single test to diagnose eczema, so doctors rely on information about you and ...

  9. Clinical application of multiphoton tomography in combination with high-frequency ultrasound for evaluation of skin diseases.

    PubMed

    König, Karsten; Speicher, Marco; Köhler, Martin J; Scharenberg, Rüdiger; Kaatz, Martin

    2010-12-01

    The first-ever application of high-frequency ultrasound combined with multiphoton tomography (MPT) and dermoscopy in a clinical trial is reported. 47 patients with different dermatoses such as benign and malign skin cancers, connective tissue diseases, inflammatory skin diseases, and autoimmune bullous skin diseases have been investigated with (i) state-of-the-art and highly sophisticated ultrasound systems for dermatology, (ii) the femtosecond laser multiphoton tomograph and (iii) dermoscopes. Dermoscopy provides two-dimensional color images of the skin surface with a magnification up to 70 x. Depending on the ultrasonic frequencies from 7.5 MHz to 100 MHz, the signal depth varies from about 1 mm to 80 mm. Vertical ultrasound wide-field images provide fast information on depth and volume of the lesion. The 100 MHz ultrasound allows imaging with resolutions down to 16 μm (axial) and 32 μm (lateral). Multiphoton tomography provides 0.36 x 0.36 x 0.001 mm³ horizontal optical sections of a particular region of interest with submicron resolution down to 200 μm tissue depth. The autofluorescence of mitochondrial coenzymes, keratin, melanin, and elastin as well as the network of collagen structures can be imaged. The combination of ultrasound and MPT opens novel synergistic possibilities in diagnostics of skin diseases with a special focus on the early detection of skin cancer as well as the evaluation of treatments. PMID:20680976

  10. Immunological, hematological, biochemical, and histopathological studies on cows naturally infected with lumpy skin disease

    PubMed Central

    Neamat-Allah, Ahmed N. F.

    2015-01-01

    Aim: Lumpy skin disease (LSD) is an infectious viral disease of cattle caused by LSD virus (LSDV) of the family Poxviridae characterized by skin nodules covering all parts of the body. There are many aspects of LSD remaining unknown, thus immunological, hematological, and biochemical parameters were estimated. Materials and Methods: During an outbreak of LSD in Sharkia governorate from Egypt, 211 cows aging (2-4 years) were examined clinically for the presence of LSD lesions during the period from July to November 2014. A total of 134 cows from those showed lesions suspected to be LSD. Results: Recorded clinical signs were pyrexia with the development of skin nodules of varying sizes which ranged from a few to several hundred sometimes coalesced together. Enlargements of the peripheral lymph nodes. Intracytoplasmic inclusion bodies were noticed in the histopathological examination. Immunological studies revealed a significant decrease of lymphocyte transformation rate, phagocytic % and killing % which was marked within 2 weeks postinfection. LSD resulted in non-significant in hemogram in 1st-2nd day post-infection while a macrocytic hypochromic anemia within 10-14th days post-infection. Leucopenia and lymphopenia were recorded 1st-2nd day post-infection while at 10-14th showed granulocytic leucocytosis. Biochemical analysis revealed hypoproteinemia, hypoalbuminemia, and hyperglobulinemia especially gamma globulins. There were a significant increase in serum alanine aminotransferase, aspartate aminotransferase activities, creatinine level, blood urea nitrogen and creatine phosphokinase Conclusion: LSDV infected cows in early stages revealed leucopenia. Immunosuppressive effect was pronounced later. In late stage revealed hemolytic anemia, leucocytosis and increase of serum CK, which could aid in diagnosis. Disturbance in liver and kidney function tests have been occurred. PMID:27047209

  11. The wound/burn guidelines - 4: Guidelines for the management of skin ulcers associated with connective tissue disease/vasculitis.

    PubMed

    Fujimoto, Manabu; Asano, Yoshihide; Ishii, Takayuki; Ogawa, Fumihide; Kawakami, Tamihiro; Kodera, Masanari; Abe, Masatoshi; Isei, Taiki; Ito, Takaaki; Inoue, Yuji; Imafuku, Shinichi; Irisawa, Ryokichi; Ohtsuka, Masaki; Ohtsuka, Mikio; Kadono, Takafumi; Kawaguchi, Masakazu; Kukino, Ryuichi; Kono, Takeshi; Sakai, Keisuke; Takahara, Masakazu; Tanioka, Miki; Nakanishi, Takeshi; Nakamura, Yasuhiro; Hashimoto, Akira; Hasegawa, Minoru; Hayashi, Masahiro; Fujiwara, Hiroshi; Maekawa, Takeo; Matsuo, Koma; Madokoro, Naoki; Yamasaki, Osamu; Yoshino, Yuichiro; Le Pavoux, Andres; Tachibana, Takao; Ihn, Hironobu

    2016-07-01

    The Japanese Dermatological Association prepared guidelines focused on the treatment of skin ulcers associated with connective tissue disease/vasculitis practical in clinical settings of dermatological care. Skin ulcers associated with connective tissue diseases or vasculitis occur on the background of a wide variety of diseases including, typically, systemic sclerosis but also systemic lupus erythematosus (SLE), dermatomyositis, rheumatoid arthritis (RA), various vasculitides and antiphospholipid antibody syndrome (APS). Therefore, in preparing the present guidelines, we considered diagnostic/therapeutic approaches appropriate for each of these disorders to be necessary and developed algorithms and clinical questions for systemic sclerosis, SLE, dermatomyositis, RA, vasculitis and APS. PMID:26972733

  12. Clinical application of versapulse laser in the treatment of skin pigmentation diseases

    NASA Astrophysics Data System (ADS)

    Liu, Chun-Li; Yuan, Wai-Hua; Yuan, Wei-Wei; Fu, Qiang

    1998-11-01

    387 cases of various skin pigmentous diseases were treated by Versapulse 'C' laser in our department Versapulse 'C' laser consist of 4 kinds of laser with wavelength of VP532nm, Q532nrn, Q755nm, Q1064nm. The vascular lesions, prot wine strain, cherry angioma, strawberry nevus, perckles, solar lentigines, melasma and junctional moles were treated by VP532 or Q532 laser; the nevus of Ota and tattoo were treated by Q755 or Q1064 laser. Satisfactory results were obtained in this paper, we also discussed the therapeutic and the main points of varying diseases with varying laser of wavelength, the use of FMLA anesthesia, controlled cold therapy an the physical protection to laser.

  13. Cytoskeletal Regulation of Inflammation and Its Impact on Skin Blistering Disease Epidermolysis Bullosa Acquisita.

    PubMed

    Kopecki, Zlatko; Ludwig, Ralf J; Cowin, Allison J

    2016-01-01

    Actin remodelling proteins regulate cytoskeletal cell responses and are important in both innate and adaptive immunity. These responses play a major role in providing a fine balance in a cascade of biological events that results in either protective acute inflammation or chronic inflammation that leads to a host of diseases including autoimmune inflammation mediated epidermolysis bullosa acquisita (EBA). This review describes the role of the actin cytoskeleton and in particular the actin remodelling protein called Flightless I (Flii) in regulating cellular inflammatory responses and its subsequent effect on the autoimmune skin blistering disease EBA. It also outlines the potential of an antibody based therapy for decreasing Flii expression in vivo to ameliorate the symptoms associated with EBA. PMID:27420054

  14. Cytoskeletal Regulation of Inflammation and Its Impact on Skin Blistering Disease Epidermolysis Bullosa Acquisita

    PubMed Central

    Kopecki, Zlatko; Ludwig, Ralf J.; Cowin, Allison J.

    2016-01-01

    Actin remodelling proteins regulate cytoskeletal cell responses and are important in both innate and adaptive immunity. These responses play a major role in providing a fine balance in a cascade of biological events that results in either protective acute inflammation or chronic inflammation that leads to a host of diseases including autoimmune inflammation mediated epidermolysis bullosa acquisita (EBA). This review describes the role of the actin cytoskeleton and in particular the actin remodelling protein called Flightless I (Flii) in regulating cellular inflammatory responses and its subsequent effect on the autoimmune skin blistering disease EBA. It also outlines the potential of an antibody based therapy for decreasing Flii expression in vivo to ameliorate the symptoms associated with EBA. PMID:27420054

  15. Prevalence of self-medication for skin diseases: a systematic review*

    PubMed Central

    Corrêa-Fissmer, Mariane; Mendonça, Mariana Gaspar; Martins, Anesio Henrique; Galato, Dayani

    2014-01-01

    Self-medication is the selection and use of drugs without medical prescription, to treat diseases or for symptomatic relief. This article is a systematic review on self-medication in skin diseases. A search was conducted on Virtual Health Library and PubMed databases using predetermined descriptors. Two researchers performed the article selection process independently, with the degree of inter-observer agreement measured by the kappa index. The prevalence of self-medication ranged from 6.0 to 45.0%. Topical corticosteroids were the most commonly used therapeutic strategies for self-medication, as found in the reviewed articles. This study revealed that published data on self-medication in dermatology are scarce, although the findings showed that it was a common practice.

  16. Neutrophilic dermatoses and autoinflammatory diseases with skin involvement--innate immune disorders.

    PubMed

    Navarini, Alexander A; Satoh, Takashi K; French, Lars E

    2016-01-01

    Neutrophilic dermatoses (NDs) such as Sweet's syndrome and pyoderma gangrenosum were first described more than 50 years ago and grouped based on their clinical features combined with the typical, neutrophil-rich cutaneous inflammation. In contrast, the recently identified autoinflammatory diseases (ADs) that are also associated with neutrophil granulocyte infiltration of the skin were first characterized based on their genetic architecture. Though both the older ND and the newer AD encompass distinct conditions, they can be seen as parts of a spectrum of innate inflammation. Both groups of diseases show so many overlapping clinical, pathogenetic, histologic, and genetic features that together they should likely be considered as innate immune disorders. PMID:26620372

  17. Demonstration of lumpy skin disease virus infection in Amblyomma hebraeum and Rhipicephalus appendiculatus ticks using immunohistochemistry.

    PubMed

    Lubinga, Jimmy C; Clift, Sarah J; Tuppurainen, Eeva S M; Stoltsz, Wilhem H; Babiuk, Shawn; Coetzer, Jacobus A W; Venter, Estelle H

    2014-03-01

    Lumpy skin disease (LSD) is caused by lumpy skin disease virus (LSDV), a member of the genus Capripoxvirus. Transmission of the virus has been associated with haematophagous insects such as Stomoxys calcitrans as well as Aedes and Culex species of mosquitoes. Recent studies have reported the transmission of the virus by Amblyomma hebraeum, Rhipicephalus appendiculatus, and Rhipicephalus decoloratus ticks and the presence of LSDV in saliva of A. hebraeum and R. appendiculatus ticks. The aim of this study was to determine which tick organs become infected by LSDV following intrastadial infection and transstadial persistence of the virus in A. hebraeum and R. appendiculatus ticks. Nymphal and adult ticks were orally infected by feeding them on LSDV-infected cattle. Partially fed adult ticks were processed for testing while nymphs were fed to repletion and allowed to moult to adults before being processed for testing. The infection in tick organs was determined by testing for the presence of the viral antigen using monoclonal antibodies with immunohistochemical staining. The viral antigen was detected in salivary glands, haemocytes, synganglia, ovaries, testes, fat bodies, and midgut. Since the virus was shown to be able to cross the midgut wall and infect various tick organs, this may indicate potential for biological development and transmission of LSDV in ticks. This study strengthens the previously reported evidence of the occurrence of LSDV in tick saliva. PMID:24287140

  18. Non-infectious environmental antigens as a trigger for the initiation of an autoimmune skin disease.

    PubMed

    Qian, Ye; Culton, Donna A; Jeong, Joseph S; Trupiano, Nicole; Valenzuela, Jesus G; Diaz, Luis A

    2016-09-01

    Pemphigus represents a group of organ specific autoimmune blistering disorders of the skin mediated by pathogenic autoantibodies with well-defined antigenic targets. While most of these diseases are sporadic, endemic forms of disease do exist. The endemic form of pemphigus foliaceus (also known as fogo selvagem, FS) exhibits epidemiological features that suggest exposure to hematophagous insect bites are a possible precipitating factor of this autoimmune disease, and provides a unique opportunity to study how environmental factors contribute to autoimmune disease development. FS patients and healthy individuals from endemic regions show an autoreactive IgM response that starts in early childhood and becomes restricted to IgG4 autoantibodies in FS patients. In searching for triggering environmental antigens, we have found that IgG4 and IgE autoantibodies from FS patients cross-react with a salivary antigen from sand flies. The presence of these cross-reactive antibodies and antibody genetic analysis confirming that these antibodies evolve from the same naïve B cells provides compelling evidence that this non-infectious environmental antigen could be the initial target of the autoantibody response in FS. Consequently, FS serves as an ideal model to study the impact of environmental antigens in the development of autoimmune disease. PMID:27396816

  19. Strained layer Fabry-Perot device

    DOEpatents

    Brennan, Thomas M.; Fritz, Ian J.; Hammons, Burrell E.

    1994-01-01

    An asymmetric Fabry-Perot reflectance modulator (AFPM) consists of an active region between top and bottom mirrors, the bottom mirror being affixed to a substrate by a buffer layer. The active region comprises a strained-layer region having a bandgap and thickness chosen for resonance at the Fabry-Perot frequency. The mirrors are lattice matched to the active region, and the buffer layer is lattice matched to the mirror at the interface. The device operates at wavelengths of commercially available semiconductor lasers.

  20. Oxidative stress in skin fibroblasts cultures from patients with Parkinson's disease

    PubMed Central

    2010-01-01

    Background In the substantia nigra of Parkinson's disease (PD) patients, increased lipid peroxidation, decreased activities of the mitochondrial complex I of the respiratory chain, catalase and glutathione-peroxidase, and decreased levels of reduced glutathione have been reported. These observations suggest that oxidative stress and mitochondrial dysfunction play a role in the neurodegeneration in PD. We assessed enzymatic activities of respiratory chain and other enzymes involved in oxidative processes in skin fibroblasts cultures of patients with PD. Methods We studied respiratory chain enzyme activities, activities of total, Cu/Zn- and Mn-superoxide-dismutase, gluthatione-peroxidase and catalase, and coenzyme Q10 levels in skin fibroblasts cultures from 20 Parkinson's disease (PD) patients and 19 age- and sex- matched healthy controls. Results When compared with controls, PD patients showed significantly lower specific activities for complex V (both corrected by citrate synthase activity and protein concentrations). Oxidized, reduced and total coenzyme Q10 levels (both corrected by citrate synthase and protein concentrations), and activities of total, Cu/Zn- and Mn-superoxide-dismutase, gluthatione-peroxidase and catalase, did not differ significantly between PD-patients and control groups. Values for enzyme activities in the PD group did not correlate with age at onset, duration, scores of the Unified Parkinson's Disease Rating scales and Hoehn-Yahr staging. Conclusions The main result of this study was the decreased activity of complex V in PD patients. This complex synthesizes ATP from ADP using an electrochemical gradient generated by complexes I-IV. These results suggest decreased energetic metabolism in fibroblasts of patients with PD. PMID:20958999

  1. Interacting Symbionts and Immunity in the Amphibian Skin Mucosome Predict Disease Risk and Probiotic Effectiveness

    PubMed Central

    Woodhams, Douglas C.; Brandt, Hannelore; Baumgartner, Simone; Kielgast, Jos; Küpfer, Eliane; Tobler, Ursina; Davis, Leyla R.; Schmidt, Benedikt R.; Bel, Christian; Hodel, Sandro; Knight, Rob; McKenzie, Valerie

    2014-01-01

    Pathogenesis is strongly dependent on microbial context, but development of probiotic therapies has neglected the impact of ecological interactions. Dynamics among microbial communities, host immune responses, and environmental conditions may alter the effect of probiotics in human and veterinary medicine, agriculture and aquaculture, and the proposed treatment of emerging wildlife and zoonotic diseases such as those occurring on amphibians or vectored by mosquitoes. Here we use a holistic measure of amphibian mucosal defenses to test the effects of probiotic treatments and to assess disease risk under different ecological contexts. We developed a non-invasive assay for antifungal function of the skin mucosal ecosystem (mucosome function) integrating host immune factors and the microbial community as an alternative to pathogen exposure experiments. From approximately 8500 amphibians sampled across Europe, we compared field infection prevalence with mucosome function against the emerging fungal pathogen Batrachochytrium dendrobatidis. Four species were tested with laboratory exposure experiments, and a highly susceptible species, Alytes obstetricans, was treated with a variety of temperature and microbial conditions to test the effects of probiotic therapies and environmental conditions on mucosome function. We found that antifungal function of the amphibian skin mucosome predicts the prevalence of infection with the fungal pathogen in natural populations, and is linked to survival in laboratory exposure experiments. When altered by probiotic therapy, the mucosome increased antifungal capacity, while previous exposure to the pathogen was suppressive. In culture, antifungal properties of probiotics depended strongly on immunological and environmental context including temperature, competition, and pathogen presence. Functional changes in microbiota with shifts in temperature provide an alternative mechanistic explanation for patterns of disease susceptibility related

  2. High Prevalence of Skin Diseases and Need for Treatment in a Middle-Aged Population. A Northern Finland Birth Cohort 1966 Study

    PubMed Central

    Sinikumpu, Suvi-Päivikki; Huilaja, Laura; Jokelainen, Jari; Koiranen, Markku; Auvinen, Juha; Hägg, Päivi M.; Wikström, Erika; Timonen, Markku; Tasanen, Kaisa

    2014-01-01

    To determine the overall prevalence of skin diseases a whole-body skin examination was performed for 1,932 members (46-years of age) of the Northern Finland Birth Cohort (NFBC 1966), which is a comprehensive longitudinal research program (N = 12,058). A high prevalence of all skin diseases needing treatment was found (N = 1,158). Half of the cases of skin findings were evaluated to be serious enough to require diagnostic evaluation, treatment or follow-up either in a general health care, occupational health care or a secondary care setting. The remaining half were thought to be slight and self-treatment was advised. Males (70%) had more skin diseases needing treatment than females (52%) (P<0.001). The most common skin finding was a benign skin tumor, which was found in every cohort member. Skin infections (44%), eczemas (27%) and sebaceous gland diseases (27%) were the most common skin diseases in the cohort. Moreover, skin infections and eczemas were more commonly seen in the group with low education compared to those with high education (P<0.005). The results strengthen the postulate that skin diseases are common in an adult population. PMID:24911008

  3. Risk of Flood-Related Diseases of Eyes, Skin and Gastrointestinal Tract in Taiwan: A Retrospective Cohort Study

    PubMed Central

    Huang, Ling-Ya; Wang, Yu-Chun; Wu, Chin-Ching

    2016-01-01

    Floods are known to cause serious environmental damage and health impacts. Studies on flood-related diseases have been primarily on individual events, and limited evidence could be drawn on potential health impacts from floods using large population data. This study used reimbursement records of one million people of the Taiwan National Health Insurance program to compare incident diseases of the eyes, skin and gastrointestinal (GI) tract associated with floods. Incidence rates for the selected diseases were calculated according to outpatient/emergency visit data. The incidence rates were evaluated by flood status: in 10 days before floods, during floods and within 10 days after the floods receded. Outpatient/emergency visit rates for the eye, skin and GI tract diseases were highest after floods and lowest during floods. Results from multivariate Poisson regression analyses showed that, when compared with the incidence in 10 days before floods, the incidence rate ratios (IRR) of diseases within 10 days after floods were 1.15 (95% confidence interval (CI) = 1.10–1.20) for eyes, 1.08 (95% C.I. = 1.05–1.10) for skin, and 1.11 (95% CI = 1.08–1.14) for GI tract, after controlling for covariates. All risks increased with ambient temperature. V-shaped trends were found between age and eye diseases, and between age and GI tract diseases. In contrast, the risk of skin diseases increased with age. In conclusion, more diseases of eyes, skin and GI tract could be diagnosed after the flood. PMID:27171415

  4. Risk of Flood-Related Diseases of Eyes, Skin and Gastrointestinal Tract in Taiwan: A Retrospective Cohort Study.

    PubMed

    Huang, Ling-Ya; Wang, Yu-Chun; Wu, Chin-Ching; Chen, Yi-Chun; Huang, Yu-Li

    2016-01-01

    Floods are known to cause serious environmental damage and health impacts. Studies on flood-related diseases have been primarily on individual events, and limited evidence could be drawn on potential health impacts from floods using large population data. This study used reimbursement records of one million people of the Taiwan National Health Insurance program to compare incident diseases of the eyes, skin and gastrointestinal (GI) tract associated with floods. Incidence rates for the selected diseases were calculated according to outpatient/emergency visit data. The incidence rates were evaluated by flood status: in 10 days before floods, during floods and within 10 days after the floods receded. Outpatient/emergency visit rates for the eye, skin and GI tract diseases were highest after floods and lowest during floods. Results from multivariate Poisson regression analyses showed that, when compared with the incidence in 10 days before floods, the incidence rate ratios (IRR) of diseases within 10 days after floods were 1.15 (95% confidence interval (CI) = 1.10-1.20) for eyes, 1.08 (95% C.I. = 1.05-1.10) for skin, and 1.11 (95% CI = 1.08-1.14) for GI tract, after controlling for covariates. All risks increased with ambient temperature. V-shaped trends were found between age and eye diseases, and between age and GI tract diseases. In contrast, the risk of skin diseases increased with age. In conclusion, more diseases of eyes, skin and GI tract could be diagnosed after the flood. PMID:27171415

  5. Chronic Pruritus in the Absence of Skin Disease: Pathophysiology, Diagnosis and Treatment.

    PubMed

    Pereira, Manuel P; Kremer, Andreas E; Mettang, Thomas; Ständer, Sonja

    2016-08-01

    Chronic pruritus arises not only from dermatoses, but also, in up to half of cases, from extracutaneous origins. A multitude of systemic, neurological, psychiatric, and somatoform conditions are associated with pruritus in the absence of skin disease. Moreover, pruritus is a frequently observed side effect of many drugs. It is therefore difficult for physicians to make a correct diagnosis. Chronic pruritus patients frequently present to the dermatologist with skin lesions secondary to a long-lasting scratching behavior, such as lichenification and prurigo nodularis. A structured clinical history and physical examination are essential in order to evaluate the pruritus, along with systematic, medical history-adapted laboratory and radiological tests carried out according to the differential diagnosis. For therapeutic reasons, a symptomatic therapy should be promptly initiated parallel to the diagnostic procedures. Once the underlying factor(s) leading to the pruritus are identified, a targeted therapy should be implemented. Importantly, the treatment of accompanying disorders such as sleep disturbances or mental symptoms should be taken into consideration. Even after successful treatment of the underlying cause, pruritus may persist, likely due to chronicity processes including peripheral and central sensitization or impaired inhibition at spinal level. A vast arsenal of topical and systemic agents targeting these pathophysiological mechanisms has been used to deter further chronicity. The therapeutic options currently available are, however, still insufficient for many patients. Thus, future studies aiming to unveil the complex mechanisms underlying chronic pruritus and develop new therapeutic agents are urgently needed. PMID:27216284

  6. Skin Disease in the Uninsured: Diagnoses, Management Decisions, and Referral Outcomes of an Urban Free Clinic.

    PubMed

    Rosenbaum, Brooke E; Freitas, Derek; Nosal, Sarah C; Meydani, Ahou

    2016-01-01

    An understanding of the burden of skin disease in the uninsured population is needed to address the unique barriers they face to access dermatologic care. We conducted a retrospective chart review of patients seen for skin conditions over three years at the New York City (NYC) Free Clinic, a weekly primary care clinic operated by the NYU School of Medicine and the Institute for Family Health. Main outcomes of this study were descriptive analyses of demographic characteristics, diagnoses, management strategies, and referral outcomes, as well as key factors influencing referral to a dermatologist and referral attendance. Diagnosis was a significant predictor of referral (p<.000). The referral attendance rate was 52.5%. Patients older than 50 years were more likely to attend their appointments than younger patients (p=.025). Gender, wait time, and travel distance had no significant association with non-attendance. While demand for dermatologic care by uninsured patients in NYC is high, referral non-attendance remains a substantial barrier to care. PMID:27180711

  7. Lentivector Transduction Improves Outcomes Over Transplantation of Human HSCs Alone in NOD/SCID/Fabry Mice

    PubMed Central

    Pacienza, Natalia; Yoshimitsu, Makoto; Mizue, Nobuo; Au, Bryan CY; Wang, James CM; Fan, Xin; Takenaka, Toshihiro; Medin, Jeffrey A

    2012-01-01

    Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A) activity that results in progressive globotriaosylceramide (Gb3) deposition. We created a fully congenic nonobese diabetic (NOD)/severe combined immunodeficiency (SCID)/Fabry murine line to facilitate the in vivo assessment of human cell-directed therapies for Fabry disease. This pure line was generated after 11 generations of backcrosses and was found, as expected, to have a reduced immune compartment and background α-gal A activity. Next, we transplanted normal human CD34+ cells transduced with a control (lentiviral vector-enhanced green fluorescent protein (LV-eGFP)) or a therapeutic bicistronic LV (LV-α-gal A/internal ribosome entry site (IRES)/hCD25). While both experimental groups showed similar engraftment levels, only the therapeutic group displayed a significant increase in plasma α-gal A activity. Gb3 quantification at 12 weeks revealed metabolic correction in the spleen, lung, and liver for both groups. Importantly, only in the therapeutically-transduced cohort was a significant Gb3 reduction found in the heart and kidney, key target organs for the amelioration of Fabry disease in humans. PMID:22472949

  8. Lentivector transduction improves outcomes over transplantation of human HSCs alone in NOD/SCID/Fabry mice.

    PubMed

    Pacienza, Natalia; Yoshimitsu, Makoto; Mizue, Nobuo; Au, Bryan C Y; Wang, James C M; Fan, Xin; Takenaka, Toshihiro; Medin, Jeffrey A

    2012-07-01

    Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A (α-gal A) activity that results in progressive globotriaosylceramide (Gb(3)) deposition. We created a fully congenic nonobese diabetic (NOD)/severe combined immunodeficiency (SCID)/Fabry murine line to facilitate the in vivo assessment of human cell-directed therapies for Fabry disease. This pure line was generated after 11 generations of backcrosses and was found, as expected, to have a reduced immune compartment and background α-gal A activity. Next, we transplanted normal human CD34(+) cells transduced with a control (lentiviral vector-enhanced green fluorescent protein (LV-eGFP)) or a therapeutic bicistronic LV (LV-α-gal A/internal ribosome entry site (IRES)/hCD25). While both experimental groups showed similar engraftment levels, only the therapeutic group displayed a significant increase in plasma α-gal A activity. Gb(3) quantification at 12 weeks revealed metabolic correction in the spleen, lung, and liver for both groups. Importantly, only in the therapeutically-transduced cohort was a significant Gb(3) reduction found in the heart and kidney, key target organs for the amelioration of Fabry disease in humans. PMID:22472949

  9. Scalded skin syndrome

    MedlinePlus

    Ritter disease; Staphylococcal scalded skin syndrome (SSS) ... Scalded skin syndrome (SSS) is caused by infection with certain strains of Staphylococcus bacteria. The bacteria produce a toxin that causes the skin ...

  10. Nuclear receptor function in skin health and disease: therapeutic opportunities in the orphan and adopted receptor classes.

    PubMed

    Yin, Kelvin; Smith, Aaron G

    2016-10-01

    The skin forms a vital barrier between an organism's external environment, providing protection from pathogens and numerous physical and chemical threats. Moreover, the intact barrier is essential to prevent water and electrolyte loss without which terrestrial life could not be maintained. Accordingly, acute disruption of the skin through physical or chemical trauma needs to be repaired timely and efficiently as sustained skin pathologies ranging from mild irritations and inflammation through to malignancy impact considerably on morbidity and mortality. The Nuclear Hormone Receptor Family of transcriptional regulators has proven to be highly valuable targets for addressing a range of pathologies, including metabolic syndrome and cancer. Indeed members of the classic endocrine sub-group, such as the glucocorticoid, retinoid, and Vitamin D receptors, represent mainstay treatment strategies for numerous inflammatory skin disorders, though side effects from prolonged use are common. Emerging evidence has now highlighted important functional roles for nuclear receptors belonging to the adopted and orphan subgroups in skin physiology and patho-physiology. This review will focus on these subgroups and explore the current evidence that suggests these nuclear receptor hold great promise as future stand-alone or complementary drug targets in treating common skin diseases and maintaining skin homeostasis. PMID:27544210

  11. Oral mucosal lesions in skin diseased patients attending a dermatologic clinic: a cross-sectional study in Sudan

    PubMed Central

    2011-01-01

    Background So far there have been no studies focusing on the prevalence of a wide spectrum of oral mucosal lesions (OML) in patients with dermatologic diseases. This is noteworthy as skin lesions are strongly associated with oral lesions and could easily be neglected by dentists. This study aimed to estimate the frequency and socio-behavioural correlates of OML in skin diseased patients attending outpatient's facility of Khartoum Teaching Hospital - Dermatology Clinic, Sudan. Methods A cross-sectional hospital-based study was conducted in Khartoum from October 2008 to January 2009. A total of 588 patients (mean age 37.2 ± 16 years, 50.3% females) completed an oral examination and a personal interview of which 544 patients (mean age 37.1 ± 15.9 years, 50% females) with confirmed skin disease diagnosis were included for further analyses. OML were recorded using the World Health Organization criteria (WHO). Biopsy and smear were used as adjuvant techniques for confirmation. Data were analysed using the Statistical Package for Social Science (Version 15.0.1). Cross tabulation and Chi-square with Fisher's exact test were used. Results A total of 438 OML were registered in 315 (57.9%, males: 54.6% versus females: 45.6%, p < 0.05) skin diseased patients. Thus, a certain number of patients had more than one type of OML. Tongue lesions were the most frequently diagnosed OML (23.3%), followed in descending order by white lesions (19.1%), red and blue lesions (11%) and vesiculobullous diseases (6%). OML in various skin diseases were; vesiculobullous reaction pattern (72.2%), lichenoid reaction pattern (60.5%), infectious lesions (56.5%), psoriasiform reaction pattern (56.7%), and spongiotic reaction pattern (46.8%). Presence of OML in skin diseased patients was most frequent in older age groups (62.4% older versus 52.7% younger, p < 0.05), in males (63.2% males versus 52.6% females, p < 0.05), patients with a systemic disease (65.2% with systemic versus 51.9% without

  12. Antibacterial activity of extracts from Zostera marina against pathogens of Apostichopus japonicus skin ulceration disease

    NASA Astrophysics Data System (ADS)

    Liu, Yang; Jiang, Guoliang; Wu, Zhiqiang

    2010-03-01

    The purpose of this study was to investigate the antibacterial activity of extracts from Zostera marina against the pathogens of Apostichopus japonicus skin ulceration disease. When 95% ethanol (v/v) solvent was used to extract Zostera marina at 50°C, aqueous extract (ZA) showed obvious bacteriostatic effects on the tested bacterial strains (inhibition halo diameters between 8.23 mm and 13.62 mm), whereas the ethyl acetate extract (ZE) was almost inactive. The minimal inhibitory concentration (MIC) of ZA against four pathogens were homogeneous at 12.8 g L-1. ZA components were analyzed by thin layer chromatography (TLC) assay and six fractions were obtained. In another study, the six fractions showed inhibitory effects against the tested bacteria while their functions seemed to counteract the ZA activity.

  13. An education intervention in an incarcerated population to reduce the occurrence of infectious skin diseases.

    PubMed

    Swenty, Constance F; Rowser, Mayola

    2014-10-01

    A study conducted at a Midwest county confinement center focused on detainees' intention to wash their hands to prevent the spread of infectious skin diseases. Results of a qualitative interview and learning style inventory were used in conjunction with the theory of planned behavior to develop a Standard Precautions DVD to address hand washing, use of personal protective equipment while cleaning body fluids, and handling of laundry. A postintervention survey revealed significant knowledge-based learning among inmates. A regression model predicting behavioral intention (hand washing) with three predictor variables (attitude toward action, subjective norm, and perceived behavioral control) was developed. The highest correlation was found to be between inmates' subjective norms and their intent to wash their hands, which indicates that inmates' behavior after watching the DVD is most influenced by how others view them, with family members having the greatest influence on subjective norms. PMID:25033996

  14. Sjögren-Larsson syndrome: a rare disease of the skin and central nervous system.

    PubMed

    Roy, Ujjawal; Das, Urmila; Pandit, Alak; Debnath, Anjan

    2016-01-01

    Sjögren-Larsson syndrome is a recessively inherited disease caused by a deficiency of fatty aldehyde dehydrogenase with presenting features of congenital ichthyosis, spastic diplegia or tetraplegia, and mental retardation. The basic pathogenic mechanism is deficiency of fatty aldehyde dehydrogenase, which may lead to an accumulation of long-chain fatty alcohols hampering cell membrane integrity, which further disrupts the barrier function of skin and white matter of the brain. MRI of the brain shows diffuse symmetrical white matter hyperintensities on T2-weighted sequences. Although there is no definitive cure for Sjögren-Larsson syndrome, most patients survive until adulthood and management involves therapies directed towards controlling specific problems. We present a case of Sjögren-Larsson syndrome with classical clinical and MRI features, including a few distinctly atypical characteristics in various attributes. PMID:27095813

  15. The Role of Free Radicals in the Photodynamic Treatment of Fibrotic Skin Diseases.

    PubMed

    Yan, Heping; Chen, Yashun; Zhang, Jucheng; Liu, Wei; Chen, Rui

    2016-01-01

    The first derivatives of gelatin and type I collagen fluorescence spectra were characterized in order to describe the effect of free radicals on pyridinoline (PYD) cross-links. The different gas saturation conditions were used to investigate the effect of different free radicals. An analysis of first derivative fluorescence spectra suggests that PYD cross-link fluorescence emission is composed of three peaks in gelatin, but only two in type I collagen. The PYD cross-link was photo-degraded more than other gases in the presence of O2. This suggests that the singlet oxygen ((1)O2) plays a key role when using photodynamic therapy to treat skin fibrosis disease with Hypocrellin B (HB). PMID:27526127

  16. Therapeutic usefulness of a corticosteroid, antibacterial and antifungal combination in skin diseases of various origins.

    PubMed

    Marras, F

    1985-01-01

    Forty-one patients with skin diseases of various origins were treated with an extempore combination of three creams containing clobetasone butyrate, sodium fusidate and ketoconazole. A mixture of the creams was applied once to 3-times daily for periods ranging from 5 to 15 days (mean 8.5 days). Assessments were made before, during and at the end of the treatment period using a symptom severity rating scale. The results showed that all symptoms regressed to a significant extent and by the end of the treatment period there had been complete disappearance or improvement with satisfactory remission in 97.6% of the patients. Local tolerance was excellent or good in all patients and there were no reports of any side-effects. PMID:4059294

  17. Advances in allergic skin disease, anaphylaxis, and hypersensitivity reactions to foods, drugs, and insects in 2009.

    PubMed

    Sicherer, Scott H; Leung, Donald Y M

    2010-01-01

    This review highlights some of the research advances in anaphylaxis and hypersensitivity reactions to foods, drugs, and insects, as well as advances in allergic skin disease that were reported in the Journal in 2009. Among key epidemiologic observations, several westernized countries report that more than 1% of children have peanut allergy, and there is some evidence that environmental exposure to peanut is a risk factor. The role of regulatory T cells, complement, platelet-activating factor, and effector cells in the development and expression of food allergy were explored in several murine models and human studies. Delayed anaphylaxis to mammalian meats appears to be related to IgE binding to the carbohydrate moiety galactose-alpha-1,3-galactose, which also has implications for hypersensitivity to murine mAb therapeutics containing this oligosaccharide. Oral immunotherapy studies continue to show promise for the treatment of food allergy, but determining whether the treatment causes tolerance (cure) or temporary desensitization remains to be explored. Increased baseline serum tryptase levels might inform the risk of venom anaphylaxis and might indicate a risk for mast cell disorders in persons who have experienced such episodes. Reduced structural and immune barrier function contribute to local and systemic allergen sensitization in patients with atopic dermatitis, as well as increased propensity of skin infections in these patients. The use of increased doses of nonsedating antihistamines and potential usefulness of omalizumab for chronic urticaria was highlighted. These exciting advances reported in the Journal can improve patient care today and provide insights on how we can improve the diagnosis and treatment of these allergic diseases in the future. PMID:20109740

  18. Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

    PubMed Central

    Indrieri, Alessia; van Rahden, Vanessa Alexandra; Tiranti, Valeria; Morleo, Manuela; Iaconis, Daniela; Tammaro, Roberta; D’Amato, Ilaria; Conte, Ivan; Maystadt, Isabelle; Demuth, Stephanie; Zvulunov, Alex; Kutsche, Kerstin; Zeviani, Massimo; Franco, Brunella

    2012-01-01

    Microphthalmia with linear skin lesions (MLS) is an X-linked dominant male-lethal disorder associated with mutations in holocytochrome c-type synthase (HCCS), which encodes a crucial player of the mitochondrial respiratory chain (MRC). Unlike other mitochondrial diseases, MLS is characterized by a well-recognizable neurodevelopmental phenotype. Interestingly, not all clinically diagnosed MLS cases have mutations in HCCS, thus suggesting genetic heterogeneity for this disorder. Among the possible candidates, we analyzed the X-linked COX7B and found deleterious de novo mutations in two simplex cases and a nonsense mutation, which segregates with the disease, in a familial case. COX7B encodes a poorly characterized structural subunit of cytochrome c oxidase (COX), the MRC complex IV. We demonstrated that COX7B is indispensable for COX assembly, COX activity, and mitochondrial respiration. Downregulation of the COX7B ortholog (cox7B) in medaka (Oryzias latipes) resulted in microcephaly and microphthalmia that recapitulated the MLS phenotype and demonstrated an essential function of complex IV activity in vertebrate CNS development. Our results indicate an evolutionary conserved role of the MRC complexes III and IV for the proper development of the CNS in vertebrates and uncover a group of mitochondrial diseases hallmarked by a developmental phenotype. PMID:23122588

  19. The Japanese version of Skindex-16: a brief quality-of-life measure for patients with skin diseases.

    PubMed

    Higaki, Yuko; Kawamoto, Kyoko; Kamo, Toshiko; Horikawa, Naoshi; Kawashima, Makoto; Chren, Mary-Margaret

    2002-11-01

    A practical quality-of-life measure applicable to patients with skin diseases is necessary. Recently developed dermatological quality-of-life measures must be translated and adapted for use in cultures other than the ones in which they were created. In this study, we translated and adapted culturally into Japanese a skin-disease-specific, brief quality-of-life measure, Skindex-16, and studied its reliability and validity. Forward-and back-translations of Skindex-16 were carried out. Six doubtful items as well as the term "skin condition" required a second forward- and back-translation to reach satisfactory agreement with the original instrument. Cross-cultural adaptation and cross-sectional questionnaire studies were then performed to evaluate the reliability and validity of the instrument. One hundred patients and 30 healthy adults responded to the Japanese version. The internal-consistency reliability of the final Japanese version of Skindex-16 was high (range of Cronbach's alpha for each scale, symptoms, emotions, and functioning, was 0.83-0.92). The Japanese version showed construct and content validity. As hypothesized, scores for dermatological patients were higher than those for healthy persons (mean global scores 36 +/- 23 vs 1 +/- 2, p < 0.001) and scores for patients with inflammatory diseases were higher than those for patients with isolated skin lesions (mean global scores 48 +/- 21 vs 22 +/- 17, p < 0.001), indicating a poorer quality of life. Most patients' responses to an open-ended question about their skin disease were similar to those of the American responders and were addressed according to the items. In conclusion, we have developed a semantically equivalent translation of Skindex-16 into Japanese. It is a reliable and valid measure of the effects of skin disease on the quality of life in Japanese patients. PMID:12484430

  20. Epizootology and Molecular Diagnosis of Lumpy Skin Disease among Livestock in Azerbaijan

    PubMed Central

    Zeynalova, Shalala; Asadov, Kliment; Guliyev, Fizuli; Vatani, Mahira; Aliyev, Vidadi

    2016-01-01

    Lumpy skin disease (LSD) is a viral disease of livestock that can cause cutaneous and internal lesions, affecting milk production, hide quality and in some cases death of the infected animal. After an outbreak in neighboring Iran, a working group from the Azerbaijan State Veterinary Control Service was sent to the border rayons (administrative districts) to determine if any cattle in southern Azerbaijan were infected. The Rayonal Veterinary Offices were contacted to look for and report any cases of LSD in their rayons. Animals exhibiting clinical signs consistent with LSD infection were first observed in the rayon of Bilasuvar and more cases were subsequently identified in Jalilabad, Ujar, and Aghdash rayons. Samples were collected from blood, and/or lesions of suspected infected animals and internal organs of cattle that died and were tested at the Republican Veterinary Laboratory in Baku using real-time polymerase chain reaction (PCR). From June to November 2014, 2,762 cattle in Azerbaijan were reported to have clinical signs or gross necropsy lesions consistent with LSD. Of 269 samples tested for LSD virus by real-time PCR, 199 (74%) were positive. A total of 33 cattle died, which was 1.2% of those exhibiting clinical signs of disease. Samples from nodular cutaneous lesions were more frequently positive by PCR and had higher concentrations of virus than blood and pooled internal organ samples. Preventative measures including movement restrictions, vector control and vaccination were put into place to slow the spread of disease. Ongoing surveillance should continue as environmental persistence of the virus may lead to further outbreaks of disease. PMID:27446057

  1. Epizootology and Molecular Diagnosis of Lumpy Skin Disease among Livestock in Azerbaijan.

    PubMed

    Zeynalova, Shalala; Asadov, Kliment; Guliyev, Fizuli; Vatani, Mahira; Aliyev, Vidadi

    2016-01-01

    Lumpy skin disease (LSD) is a viral disease of livestock that can cause cutaneous and internal lesions, affecting milk production, hide quality and in some cases death of the infected animal. After an outbreak in neighboring Iran, a working group from the Azerbaijan State Veterinary Control Service was sent to the border rayons (administrative districts) to determine if any cattle in southern Azerbaijan were infected. The Rayonal Veterinary Offices were contacted to look for and report any cases of LSD in their rayons. Animals exhibiting clinical signs consistent with LSD infection were first observed in the rayon of Bilasuvar and more cases were subsequently identified in Jalilabad, Ujar, and Aghdash rayons. Samples were collected from blood, and/or lesions of suspected infected animals and internal organs of cattle that died and were tested at the Republican Veterinary Laboratory in Baku using real-time polymerase chain reaction (PCR). From June to November 2014, 2,762 cattle in Azerbaijan were reported to have clinical signs or gross necropsy lesions consistent with LSD. Of 269 samples tested for LSD virus by real-time PCR, 199 (74%) were positive. A total of 33 cattle died, which was 1.2% of those exhibiting clinical signs of disease. Samples from nodular cutaneous lesions were more frequently positive by PCR and had higher concentrations of virus than blood and pooled internal organ samples. Preventative measures including movement restrictions, vector control and vaccination were put into place to slow the spread of disease. Ongoing surveillance should continue as environmental persistence of the virus may lead to further outbreaks of disease. PMID:27446057

  2. Epidemiology and psycho-social aspects of onchocercal skin diseases in northeastern Nigeria

    PubMed Central

    Okoye, Ikem Chris; Onwuliri, Celestine OE

    2007-01-01

    Background Observations were made on the prevalence of onchocerciasis and Onchocercal Skin Diseases (OSD); frequency of occurrence and anatomical distribution of OSD in the Hawal River Valley, an established onchocerciasis endemic focus in north-eastern Nigeria. Methods Symptoms of OSD were diagnosed in 5 844 subjects using Rapid Assessment Method (RAM) while 1 479 of the subjects chosen from alternate households had their skin biopsies examined for active microfilariae of Onchocerca volvulus. Also, Focal Group Discussions (FGD) were conducted at the Health District levels. Results O. volvulus was recorded in (19.0%) and OSD in (43.8%) of the subjects. The Mantel-Haenszel test for linear association showed a close agreement between onchocerciasis prevalence and the rate of OSD (χ2 = 3.93; p < 0.05). The various forms of OSD occurred in the order: CPOD (17.7%), APOD (9.9%), DPM (9.0%), LOD (7.0%) and ATR (3.1%). The overall frequency of occurrence of various symptoms of OSD on different anatomical locations showed the locations in descending order of occurrence as lower limbs (24.6%), upper limbs (21.3%), buttocks (19.9%), shoulder & neck (19.1%), abdomen and trunk (11.3%), backside (10.6), and 'other' sites (7.5%). The Focal Group Discussion (FGD) revealed the most worrisome consequences of OSD as social isolation of victims (31.3%), shame and low self esteem (22.7%) and high cost of medication (15.6%). Conclusion It is recommended that Onchocerciasis control programmes in the Hawal River Valley and any other focus with high incidence of OSD should incorporate an aspect that would address the anxiety and depression caused by various OSD lesions since they carry lots of psycho-social implications. This would increase acceptance and compliance of the target population. The classification criteria of onchocerciasis endemicity should be based on either or both of the O. volvulus and onchocercal skin disease burden of any community and no longer on O. volvulus

  3. 499 Mastocytosis: Importance as Differential Diagnosis in Skin Diseases. Report of Two Cases

    PubMed Central

    Gonzalez-Carsolio, Aida; Barreto-Sosa, Adriana; Burbano-Ceron, Andres-Leonardo; Velasco-Medina, Andrea Aida; Velázquez-Sámano, Guillermo

    2012-01-01

    Background Is a heterogeneous disorder characterized by clonal proliferation of mast cells (MCs) leading accumulation in different organs. Pathologic activation of KIT due to a mutation in codon 816 replacing aspartic acid for valine: KIT-D816V (>93%) has been identified. Cutaneous Mastocytosis (CM), Classified in Urticaria Pigmentosa (UP), solitary mastocytoma, diffuse, and telangiectasia macularis eruptiva perstans (TMEP). The most common is the Urticaria Pigmentosa as fixed, reddish brown macular or papular, urticate in physical irritation (Darier's sign). WHO Diagnostic Criteria for cutaneous Mastocytosis: Presence of at least 1 of skin lesions with Focal dense MC infiltrates (>15 MCs per cluster) or diffuse (>20 cells per high-power field). Methods We report 2 cases of patients with this disease who were not diagnosed at first. A 51 years old female, who noticed 20 years ago, the appareance of itchy "spots” in thorax, abdomen and extremities, progressively increasing in number and size, receiving unspecified treatments without improvement. On examination, we found brown macules with sharp borders, 0.3 to 0.5 cm erythema and Darier´s sign, disseminated lesions on thorax, shoulders and extremities. A 45 year old female, who noticed 2 years ago, the appareance of freckles in neck, arms, thorax and legs progressively increasing in number, who in stress are itchy. Receiving multiple treatments without improvement. On examination disseminated brown macules with sharp borders <0.5 cm with Darier´s sign. Results In both patients, the biopsies taken had findings compatible with mastocytosis (inflammatory infiltrate with perivascular lymphocytes, histiocytes and mast cells). Mast cells were not quantified. We realized a genetic study in search of c-kit mutation. Once the diagnosis was considered and treated accordingly, they had a good control of symptoms. Conclusions Mastocytosis is diagnosed by clinical features and histological infiltrate of mast cells. The skin

  4. Re: Treatment of Parasitic Skin Diseases with Dimeticones A New Family of Compounds with a Purely Physical Mode of Action

    PubMed Central

    2015-01-01

    The article on use of dimeticone for treatment of epidermal parasitic skin diseases is potentially confusing and misleading because, in a practical sense, only head louse infestation can be treated with this material. Scabies mites are unaffected by silicones and use of dimeticone against other ectoparasites may have unwanted side effects such as anaphylactiform reactions or increased risk of pathogen transmission. PMID:26060419

  5. The Infectious Diseases Clinical Research Program: addressing the challenge of infections related to war injuries and skin and soft tissues.

    PubMed

    Martin, Gregory J; Tribble, David R

    2010-07-01

    The Infectious Diseases Clinical Research Program (IDCRP) at the Uniformed Services University of the Health Sciences (USU) is a National Institute of Allergy and Infectious Diseases (NIAID)-funded network of military treatment and research facilities coordinated through USU and the Henry M. Jackson Foundation for the Advancement of Military Medicine (HJF). IDCRP functions in collaboration with the NIAID, universities, and industry to address infectious diseases threats to the U.S. military and to the nation. Although IDCRP has projects in diseases from HIV to tuberculosis, a major focus has been on skin, soft-tissue, and war-related infections. PMID:23634479

  6. Strategic management of keloid disease in ethnic skin: a structured approach supported by the emerging literature.

    PubMed

    Ud-Din, S; Bayat, A

    2013-10-01

    Keloid disease (KD) is a common, benign, dermal fibroproliferative growth of unknown aetiology. Lesions tend to grow over time; they often recur following therapy and do not regress spontaneously. KD causes considerable discomfort due to pain, pruritus and inflammation, and a significant psychosocial impact with reduced quality of life. It is unique to humans and occurrence is higher in individuals with dark, pigmented, ethnic skin. There is a strong familial heritability, with a high ethnic predisposition in individuals of African, Asian and Hispanic descent. High recurrence rates and unknown resolution rates present a major problem for both the patient and clinician. Many treatment modalities exist; however, there is no single advocated therapy. Therefore, the aim of this review was to explore the most current literature regarding the range of treatment options for KD and to offer a structured approach in the management of KD, based on evidence and experience, to aid clinicians in their current practice. A focused history involving careful evaluation of the patient's symptoms, signs, quality of life and psychosocial well-being should direct targeted therapy, complemented with regular follow-up and re-evaluation. Many treatment modalities, such as intralesional steroid injection, silicone gel application, cryotherapy, lasers, 5-fluorouracil and, relatively recently, photodynamic therapy, are currently being used in clinical practice for the management of KD. Combination therapies have also been shown to be beneficial. However, there is a lack of robust, randomized, level-one, evidence-controlled trials evaluating these treatment options. Management of KD in ethnic pigmented skin remains a clinical challenge. Thus, a strategic approach with structured assessment, targeted therapy and focus on prevention of recurrence is highly recommended. Quality evidence is essential in order to tailor treatment effectively for the ethnic patient presenting with KD. PMID:24098903

  7. Ulnar Para-metacarpal Flap for Recurrence of Dupuytren’s Disease with Skin Ulcer: A Case Report

    PubMed Central

    SUGIYAMA, Yoichi; NAITO, Kiyohito; IGETA, Yuka; KANEKO, Kazuo; OBAYASHI, Osamu

    2014-01-01

    Introduction: In a patient with recurrent Dupuytren’s disease, we performed dermofasciectomy including the diseased skin and soft tissue, and covered the soft tissue defect using an ulnar parametacarpal flap. Case Report: A 65-year-old man had undergone invasive aponeurectomy for Dupuytren’s contracture of the right 5th finger 3 years before, but showed recurrence about 1 year after surgery. Since a skin ulcer was noted at the site of recurrence, dermofasciectomy including the scarred skin was performed on the palmar side of the 5th finger, and the skin defect was covered with an ulnar parametacarpal flap. No recurrence has been noted for the 6 months since the surgery. Conclusion: The ulnar parametacarpal flap, in which the vascular pedicle is easy to identify, is useful for covering a skin defect on the palmar side of the 5th finger if used as an island flap. However, a disadvantage of this flap is that it is likely to develop congestion due to poor venous return. PMID:27299006

  8. Age-Associated Skin Conditions and Diseases: Current Perspectives and Future Options.

    PubMed

    Blume-Peytavi, Ulrike; Kottner, Jan; Sterry, Wolfram; Hodin, Michael W; Griffiths, Tamara W; Watson, Rachel E B; Hay, Roderick J; Griffiths, Christopher E M

    2016-04-01

    The International League of Dermatological Societies (ILDS), a global, not-for-profit organization representing 157 dermatological societies worldwide, has identified the consequences of skin aging as one of the most important grand challenges in global skin health. Reduced functional capacity and increased susceptibility of the skin with development of dermatoses such as dry skin, itching, ulcers, dyspigmentation, wrinkles, fungal infections, as well as benign and malignant tumors are the most common skin conditions in aged populations worldwide. Environmental (e.g., pollution) and lifestyle factors (e.g., smoking, sunbed use) negatively affect skin health. In turn altered appearance, dry skin, chronic wounds, and other conditions decrease general health and reduce the likelihood for healthy and active aging. Preventive skin care includes primary, secondary, and tertiary interventions. Continuous sun protection from early childhood onward is most important, to avoid extrinsic skin damage and skin cancer. Exposure to irritants, allergens, or other molecules damaging the skin must be avoided or reduced to a minimum. Public health approaches are needed to implement preventive and basic skin care worldwide to reach high numbers of dermatological patients and care receivers. Education of primary caregivers and implementation of community dermatology are successful strategies in resource-poor countries. Besides specialist physicians, nurses and other health care professionals play important roles in preventing and managing age-related skin conditions in developing as well as in developed countries. Healthy skin across the life course leads to better mental and emotional health, positive impact on social engagement, and healthier, more active, and productive lives. PMID:26994263

  9. Anti-CD44-mediated blockade of leukocyte migration in skin-associated immune diseases.

    PubMed

    Zöller, Margot; Gupta, Pooja; Marhaba, Rachid; Vitacolonna, Mario; Freyschmidt-Paul, Pia

    2007-07-01

    CD44 plays an important role in leukocyte extravasation, which is fortified in autoimmune diseases and delayed-type hypersensitivity (DTH) reactions. There is additional evidence that distinct CD44 isoforms interfere with the extravasation of selective leukocyte subsets. We wanted to explore this question in alopecia areata (AA), a hair-follicle centric autoimmune disease, and in a chronic eczema. The question became of interest because AA is treated efficiently by topical application of a contact sensitizer, such that a mild DTH reaction is maintained persistently. Aiming to support the therapeutic efficacy of a chronic eczema in AA by anti-CD44 treatment, it became essential to control whether a blockade of migration, preferentially of AA effector cells, could be achieved by CD44 isoform-specific antibodies. Anti-panCD44 and anti-CD44 variant 10 isoform (CD44v10) inhibited in vitro migration of leukocytes from untreated and allergen-treated, control and AA mice. In vivo, both antibodies interfered with T cell and monocyte extravasation into the skin; only anti-panCD44 prevented T cell homing into lymph nodes. Contributing factors are disease-dependent alterations in chemokine/chemokine receptor expression and a blockade of CD44 on endothelial cells and leukocytes. It is important that CD44 can associate with several integrins and ICAM-1. Associations depend on CD44 activation and vary with CD44 isoforms and leukocyte subpopulations. CD44 standard isoform preferentially associates with CD49d in T cells and CD44v10 with CD11b in monocytes. Accordingly, anti-panCD44 and anti-CD49d inhibit T cell, anti-CD11b, and anti-CD44v10 macrophage migration most efficiently. Thus, allergen treatment of AA likely can be supported by targeting AA T cells selectively via a panCD44-CD49d-bispecific antibody. PMID:17442857

  10. Skin of color: biology, structure, function, and implications for dermatologic disease.

    PubMed

    Taylor, Susan C

    2002-02-01

    People with skin of color constitute a wide range of racial and ethnic groups-including Africans, African Americans, African Caribbeans, Chinese and Japanese, Native American Navajo Indians, and certain groups of fair-skinned persons (eg, Indians, Pakistanis, Arabs), and Hispanics. It has been predicted that people with skin of color will constitute a majority of the United States and international populations in the 21st century. There is not a wealth of data on racial and ethnic differences in skin and hair structure, physiology, and function. What studies do exist involve small patient populations and often have methodologic flaws. Consequently, few definitive conclusions can be made. The literature does support a racial differential in epidermal melanin content and melanosome dispersion in people of color compared with fair-skinned persons. Other studies have demonstrated differences in hair structure and fibroblast size and structure between black and fair-skinned persons. These differences could at least in part account for the lower incidence of skin cancer in certain people of color compared with fair-skinned persons; a lower incidence and different presentation of photo aging; pigmentation disorders in people with skin of color; and a higher incidence of certain types of alopecia in Africans and African Americans compared with those of other ancestry. However, biologic or genetic factors are not the only ones impacting on these differences in dermatologic disorders. Cultural practices also can have a significant impact. Further studies are needed to help dermatologists optimally treat people with skin of color. PMID:11807469

  11. Herpes simplex type 2 virus deleted in glycoprotein D protects against vaginal, skin and neural disease

    PubMed Central

    Petro, Christopher; González, Pablo A; Cheshenko, Natalia; Jandl, Thomas; Khajoueinejad, Nazanin; Bénard, Angèle; Sengupta, Mayami; Herold, Betsy C; Jacobs, William R

    2015-01-01

    Subunit vaccines comprised of glycoprotein D (gD-2) failed to prevent HSV-2 highlighting need for novel strategies. To test the hypothesis that deletion of gD-2 unmasks protective antigens, we evaluated the efficacy and safety of an HSV-2 virus deleted in gD-2 and complemented allowing a single round of replication on cells expressing HSV-1 gD (ΔgD−/+gD−1). Subcutaneous immunization of C57BL/6 or BALB/c mice with ΔgD−/+gD1 provided 100% protection against lethal intravaginal or skin challenges and prevented latency. ΔgD−/+gD1 elicited no disease in SCID mice, whereas 1000-fold lower doses of wild-type virus were lethal. HSV-specific antibodies were detected in serum (titer 1:800,000) following immunization and in vaginal washes after intravaginal challenge. The antibodies elicited cell-mediated cytotoxicity, but little neutralizing activity. Passive transfer of immune serum completely protected wild-type, but not Fcγ-receptor or neonatal Fc-receptor knock-out mice. These studies demonstrate that non-neutralizing Fc-mediated humoral responses confer protection and support advancement of this attenuated vaccine. DOI: http://dx.doi.org/10.7554/eLife.06054.001 PMID:25756612

  12. Acinetobacter baumannii-Associated Skin and Soft Tissue Infections: Recognizing a Broadening Spectrum of Disease*

    PubMed Central

    Guerrero, Dubert M.; Perez, Federico; Conger, Nicholas G.; Solomkin, Joseph S.; Adams, Mark D.; Rather, Philip N.

    2010-01-01

    Abstract Background Acinetobacter baumannii is gaining importance as a cause of nosocomial infections, but its role in skin and soft tissue infection (SSTI) is not well defined. As a result of the outbreak of A. baumannii occurring in military personnel in Iraq and Afghanistan, reports of severe wound infections and SSTI caused by this pathogen are increasing in frequency. Methods We describe four cases of monomicrobial and polymicrobial A. baumannii–associated necrotizing SSTI accompanied by A. baumannii bacteremia and offer a review of similar experiences published in the literature. Results Our comparative analysis reveals four unique features associated with necrotizing SSTI associated with A. baumannii: i) Occurs in hosts with underlying comorbidities (e.g., trauma, cirrhosis); ii) is often accompanied by bacteremia; iii) multiple drug resistance and the presence of co-pathogens frequently complicated treatment (64% of cases); iv) the cases reported here and in our review required surgical debridement (84% of cases) and led to substantial mortality (∼30%). Conclusions As the prevalence of A. baumannii continues to increase in our health care system, SSTIs caused by this organism may become more common. Clinicians must be aware that the spectrum of disease caused by A. baumannii could include severe necrotizing SSTI and that vigilance for potential complications is necessary. PMID:19788383

  13. Evaluation of lumpy skin disease virus, a capripoxvirus, as a replication-deficient vaccine vector.

    PubMed

    Aspden, Kate; Passmore, Jo-Ann; Tiedt, Friedrich; Williamson, Anna-Lise

    2003-08-01

    Lumpy skin disease virus (LSDV), a capripoxvirus with a host range limited to ruminants, was evaluated as a replication-deficient vaccine vector for use in non-ruminant hosts. By using the rabies virus glycoprotein (RG) as a model antigen, it was demonstrated that recombinant LSDV encoding the rabies glycoprotein (rLSDV-RG) was able to express RG in both permissive (ruminant) and non-permissive (non-ruminant) cells. The recombinant LSDV, however, replicated to maturity only in permissive but not in non-permissive cells. Recombinant LSDV-RG was assessed for its ability to generate immunity against RG in non-ruminant hosts (rabbits and mice). Rabbits inoculated with rLSDV-RG produced rabies virus (RV) neutralizing antibodies at levels twofold higher than those reported by the WHO to be protective. BALB/c mice immunized with rLSDV-RG elicited levels of RV-specific cellular immunity (T-cell proliferation) comparable with those of mice immunized with a commercial inactivated rabies vaccine (Verorab; Pasteur Merieux). Most importantly, mice immunized with rLSDV-RG were protected from an aggressive intracranial rabies virus challenge. PMID:12867628

  14. "Leopard skin sign": the use of narrow-band imaging with magnification endoscopy in celiac disease.

    PubMed

    Tchekmedyian, Asadur J; Coronel, Emmanuel; Czul, Frank

    2014-01-01

    Celiac Disease (CD) is an immune reaction to gluten containing foods such as rye, wheat and barley. This condition affects individuals with a genetic predisposition; it targets the small bowel and may cause symptoms including diarrhea, malabsorption, weight loss, abdominal pain and bloating. The diagnosis is made by serologic testing of celiac-specific antibodies and confirmed by histology. Certain endoscopic characteristics, such as scalloping, reduction in the number of folds, mosaic-pattern mucosa or nodular mucosa, are suggestive of CD and can be visualized under white light endoscopy. Due to its low sensitivity, endoscopy alone is not recommended to diagnose CD; however, enhanced visual identification of suspected mucosal abnormalities through the use of new technologies, such as narrow band imaging with magnification (NBI-ME), could assist in targeting biopsies and thereby increasing the sensitivity of endoscopy. This is a case series of seven patients with serologic and histologic diagnoses of CD who underwent upper endoscopies with NBI-ME imaging technology as part of their CD evaluation. By employing this imaging technology, we could identify patchy atrophy sites in a mosaic pattern, with flattened villi and alteration of the central capillaries of the duodenal mucosa. We refer to this epithelial pattern as "Leopard Skin Sign". Since epithelial lesions are easily seen using NBI-ME, we found it beneficial for identifying and targeting biopsy sites. Larger prospective studies are warranted to confirm our findings. PMID:25594756

  15. Striped Fabry-Perots: Improved efficiency for velocimetry

    SciTech Connect

    McMillan, C.; Steinmetz, L.

    1990-07-01

    Removing a narrow stripe of the reflective coating from the input mirror of a Fabry-Perot interferometer can dramatically increase the amount of light transmitted through the system; we have observed gains in excess of 50 when we compare a conventional Fabry-Perot with the striped Fabry-Perot under similar lighting conditions. The stripe affects the distribution of light in the Fabry-Perot peaks causing them to be lower in the center of the pattern. We examine this distribution, and discuss its application in analyzing velocities. 6 refs., 6 figs., 1 tab.

  16. An Archetype Semi-Ring Fabry-Perot (SRFP) Resonator

    NASA Technical Reports Server (NTRS)

    Taghavi-Larigani, Shervin; VanZyl, Jakob

    2009-01-01

    We introduce and demonstrate the generation of a novel resonator, termed Semi-Ring Fabry-Perot (SRFP), that exhibits unique features, such as, its use of one plane mirror, allowing the SRFP to be easily fabricated as a symmetrical device. In addition to its unique features, it exhibits advantages of ring and Fabry-Perot resonators: 1) compared to a ring resonator that only allows a transmitted intensity, the Semi-Ring Fabry-Perot (SRFP) supports standing waves, allowing both a reflected and transmitted intensity; 2) the reflected light spectrum of the SRFP resonator is much narrower than similar Fabry-Perot, implying higher finesse.

  17. Spatial and Temporal Epidemiology of Lumpy Skin Disease in the Middle East, 2012-2015.

    PubMed

    Alkhamis, Mohammad A; VanderWaal, Kimberly

    2016-01-01

    Lumpy skin disease virus (LSDV) is an infectious disease of cattle that can have severe economic implications. New LSD outbreaks are currently circulating in the Middle East (ME). Since 2012, severe outbreaks were reported in cattle across the region. Characterizing the spatial and temporal dynamics of LSDV in cattle populations is prerequisite for guiding successful surveillance and control efforts at a regional level in the ME. Here, we aim to model the ecological niche of LSDV and identify epidemic progression patterns over the course of the epidemic. We analyzed publically available outbreak data from the ME for the period 2012-2015 using presence-only maximum entropy ecological niche modeling and the time-dependent method for the estimation of the effective reproductive number (R-TD). High-risk areas (probability >0.60) for LSDV identified by ecological niche modeling included parts of many northeastern ME countries, though Israel and Turkey were estimated to be the most suitable locations for occurrence of LSDV outbreaks. The most important environmental predictors that contributed to the ecological niche of LSDV included annual precipitation, land cover, mean diurnal range, type of livestock production system, and global livestock densities. Average monthly effective R-TD was equal to 2.2 (95% CI: 1.2, 3.5), whereas the largest R-TD was estimated in Israel (R-TD = 22.2, 95 CI: 15.2, 31.5) in September 2013, which indicated that the demographic and environmental conditions during this period were suitable to LSDV super-spreading events. The sharp drop of Isreal's inferred R-TD in the following month reflected the success of their 2013 vaccination campaign in controlling the disease. Our results identified areas in which underreporting of LSDV outbreaks may have occurred. More epidemiological information related to cattle populations are needed to further improve the inferred spatial and temporal characteristics of currently circulating LSDV. However, the

  18. Spatial and Temporal Epidemiology of Lumpy Skin Disease in the Middle East, 2012–2015

    PubMed Central

    Alkhamis, Mohammad A.; VanderWaal, Kimberly

    2016-01-01

    Lumpy skin disease virus (LSDV) is an infectious disease of cattle that can have severe economic implications. New LSD outbreaks are currently circulating in the Middle East (ME). Since 2012, severe outbreaks were reported in cattle across the region. Characterizing the spatial and temporal dynamics of LSDV in cattle populations is prerequisite for guiding successful surveillance and control efforts at a regional level in the ME. Here, we aim to model the ecological niche of LSDV and identify epidemic progression patterns over the course of the epidemic. We analyzed publically available outbreak data from the ME for the period 2012–2015 using presence-only maximum entropy ecological niche modeling and the time-dependent method for the estimation of the effective reproductive number (R-TD). High-risk areas (probability >0.60) for LSDV identified by ecological niche modeling included parts of many northeastern ME countries, though Israel and Turkey were estimated to be the most suitable locations for occurrence of LSDV outbreaks. The most important environmental predictors that contributed to the ecological niche of LSDV included annual precipitation, land cover, mean diurnal range, type of livestock production system, and global livestock densities. Average monthly effective R-TD was equal to 2.2 (95% CI: 1.2, 3.5), whereas the largest R-TD was estimated in Israel (R-TD = 22.2, 95 CI: 15.2, 31.5) in September 2013, which indicated that the demographic and environmental conditions during this period were suitable to LSDV super-spreading events. The sharp drop of Isreal’s inferred R-TD in the following month reflected the success of their 2013 vaccination campaign in controlling the disease. Our results identified areas in which underreporting of LSDV outbreaks may have occurred. More epidemiological information related to cattle populations are needed to further improve the inferred spatial and temporal characteristics of currently circulating LSDV. However

  19. Antigen identification using skin deficient in basement-membrane protein: a novel tool for the diagnosis of subepidermal immunobullous diseases.

    PubMed

    Rao, R; Bhogal, B; Groves, R

    2013-04-01

    Common unifying features of the subepidermal blistering diseases are the presence of tense blisters clinically and demonstration by immunofluorescence of linear deposition of immunoreactants along the dermoepidermal junction. Further characterization of subtype is possible by identification of the target antigen by immunoblotting. However, immunoblotting is time-consuming and may not be practical for routine use in the laboratory. In this report, we describe a simple technique to identify the target antigen by indirect immunofluorescence, using epidermolysis bullosa skin as substrate. PMID:23517360

  20. Epidemiological pattern of tattoo skin disease: a potential general health indicator for cetaceans.

    PubMed

    Van Bressem, Marie-Françoise; Van Waerebeek, Koen; Aznar, Francisco Javier; Raga, Juan Antonio; Jepson, Paul D; Duignan, Pádraig; Deaville, Rob; Flach, Leonardo; Viddi, Francisco; Baker, John R; Di Beneditto, Ana Paula; Echegaray, Mónica; Genovo, Tilen; Reyes, Julio; Felix, Fernando; Gaspar, Raquel; Ramos, Renata; Peddemors, Vic; Sanino, Gian Paolo; Siebert, Ursula

    2009-07-23

    The presence of tattoo skin disease (TSD) was examined in 1392 free-ranging and dead odontocetes comprising 17 species from the Americas, Europe, South Africa, New Zealand and Greenland. We investigated whether TSD prevalence varied with sex, age and health status. TSD was encountered in cetaceans from the Pacific and Atlantic Oceans as well as in those from the North, Mediterranean and Tasman Seas. No clear patterns related to geography and host phylogeny were detected, except that prevalence of TSD in juveniles and, in 2 species (dusky dolphin Lagenorhynchus obscurus and Burmeister's porpoise Phocoena spinipinnis), in adults was remarkably high in samples from Peru. Environmental factors and virus properties may be responsible for this finding. Sex did not significantly influence TSD prevalence except in the case of Peruvian P. spinipinnis. Generally, there was a pattern of TSD increase in juveniles compared to calves, attributed to the loss of maternal immunity. Also, in most samples, juveniles seemed to have a higher probability of suffering TSD than adults, presumably because more adults had acquired active immunity following infection. This holo-endemic pattern was inverted in poor health short-beaked common dolphins Delphinus delphis and harbour porpoises Phocoena phocoena from the British Isles, and in Chilean dolphins Cephalorhynchus eutropia from Patagonia, where adults showed a higher TSD prevalence than juveniles. Very large tattoos were seen in some adult odontocetes from the SE Pacific, NE Atlantic and Portugal's Sado Estuary, which suggest impaired immune response. The epidemiological pattern of TSD may be an indicator of cetacean population health. PMID:19750811

  1. Seasonal and ontogenetic variation of skin microbial communities and relationships to natural disease dynamics in declining amphibians

    PubMed Central

    Longo, Ana V.; Savage, Anna E.; Hewson, Ian; Zamudio, Kelly R.

    2015-01-01

    Recently, microbiologists have focused on characterizing the probiotic role of skin bacteria for amphibians threatened by the fungal disease chytridiomycosis. However, the specific characteristics of microbial diversity required to maintain health or trigger disease are still not well understood in natural populations. We hypothesized that seasonal and developmental transitions affecting susceptibility to chytridiomycosis could also alter the stability of microbial assemblages. To test our hypothesis, we examined patterns of skin bacterial diversity in two species of declining amphibians (Lithobates yavapaiensis and Eleutherodactylus coqui) affected by the pathogenic fungus Batrachochytrium dendrobatidis (Bd). We focused on two important transitions that affect Bd susceptibility: ontogenetic (from juvenile to adult) shifts in E. coqui and seasonal (from summer to winter) shifts in L. yavapaiensis. We used a combination of community-fingerprinting analyses and 16S rRNA amplicon sequencing to quantify changes in bacterial diversity and assemblage composition between seasons and developmental stages, and to investigate the relationship between bacterial diversity and pathogen load. We found that winter-sampled frogs and juveniles, two states associated with increased Bd susceptibility, exhibited higher diversity compared with summer-sampled frogs and adult individuals. Our findings also revealed that hosts harbouring higher bacterial diversity carried lower Bd infections, providing support for the protective role of bacterial communities. Ongoing work to understand skin microbiome resilience after pathogen disturbance has the potential to identify key taxa involved in disease resistance. PMID:26587253

  2. Seasonal and ontogenetic variation of skin microbial communities and relationships to natural disease dynamics in declining amphibians.

    PubMed

    Longo, Ana V; Savage, Anna E; Hewson, Ian; Zamudio, Kelly R

    2015-07-01

    Recently, microbiologists have focused on characterizing the probiotic role of skin bacteria for amphibians threatened by the fungal disease chytridiomycosis. However, the specific characteristics of microbial diversity required to maintain health or trigger disease are still not well understood in natural populations. We hypothesized that seasonal and developmental transitions affecting susceptibility to chytridiomycosis could also alter the stability of microbial assemblages. To test our hypothesis, we examined patterns of skin bacterial diversity in two species of declining amphibians (Lithobates yavapaiensis and Eleutherodactylus coqui) affected by the pathogenic fungus Batrachochytrium dendrobatidis (Bd). We focused on two important transitions that affect Bd susceptibility: ontogenetic (from juvenile to adult) shifts in E. coqui and seasonal (from summer to winter) shifts in L. yavapaiensis. We used a combination of community-fingerprinting analyses and 16S rRNA amplicon sequencing to quantify changes in bacterial diversity and assemblage composition between seasons and developmental stages, and to investigate the relationship between bacterial diversity and pathogen load. We found that winter-sampled frogs and juveniles, two states associated with increased Bd susceptibility, exhibited higher diversity compared with summer-sampled frogs and adult individuals. Our findings also revealed that hosts harbouring higher bacterial diversity carried lower Bd infections, providing support for the protective role of bacterial communities. Ongoing work to understand skin microbiome resilience after pathogen disturbance has the potential to identify key taxa involved in disease resistance. PMID:26587253

  3. Skin turgor

    MedlinePlus

    Doughy skin; Poor skin turgor; Good skin turgor; Decreased skin turgor ... Call your health care provider if: Poor skin turgor occurs with vomiting, diarrhea, or fever. The skin is very slow to return to normal, or the skin "tents" up ...

  4. The effects of the El Niño Southern Oscillation on skin and skin-related diseases: a message from the International Society of Dermatology Climate Change Task Force.

    PubMed

    Andersen, Louise K; Davis, Mark D P

    2015-12-01

    The El Niño Southern Oscillation (ENSO) is a complex climate phenomenon occurring in the Pacific Ocean at intervals of 2-7 years. The term refers to fluctuations in ocean temperatures in the tropical eastern Pacific Ocean (El Niño [the warm phase of ENSO] and La Niña [the cool phase of ENSO]) and in atmospheric pressure across the Pacific basin (Southern Oscillation). This weather pattern is attributed with causing climate change in certain parts of the world and is associated with disease outbreaks. The question of how ENSO affects skin and skin-related disease is relatively unanswered. We aimed to review the literature describing the effects of this complex weather pattern on skin. El Niño has been associated with increases in the occurrence of actinic keratosis, tinea, pityriasis versicolor, miliaria, folliculitis, rosacea, dermatitis by Paederus irritans and Paederus sabaeus, and certain vector-borne and waterborne diseases, such as dengue fever, leishmaniasis, Chagas' disease, Barmah Forest virus, and leptospirosis, and with decreases in the occurrence of dermatitis, scabies, psoriasis, and papular urticaria. La Niña has been associated with increases in the occurrence of varicella, hand, foot, and mouth disease, and Ross River virus (in certain areas), and decreases in viral warts and leishmaniasis. Reports on the effects of ENSO on skin and skin-related disease are limited, and more studies could be helpful in the future. PMID:26471012

  5. Geriatric dermatoses: a clinical review of skin diseases in an aging population.

    PubMed

    Jafferany, Mohammad; Huynh, Trung V; Silverman, Melissa A; Zaidi, Zohra

    2012-05-01

    Geriatric dermatoses are a challenging job for the physician in terms of diagnosis, management, and followup. Since skin of the elderly population is going through a lot of changes from both an intrinsic and extrinsic point of view, it is imperative for the physician to have a better understanding of the pathophysiology of geriatric skin disorders and their specific management, which differs slightly from an adult population. This review focuses on a brief introduction to the pathophysiological aspects of skin disorders in elderly, the description of some common geriatric skin disorders and their management and the new emerging role of psychodermatological aspects of geriatric dermatoses is also discussed. At the end, ten multiple choice questions are also added to further enhance the knowledge base of the readers. PMID:22515576

  6. 76 FR 9031 - National Institute of Arthritis and Musculoskeletal and Skin Diseases; Notice of Closed Meeting

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-16

    ..., 2011. Time: 8 a.m. to 5 p.m. Agenda: To review and evaluate the Molecular Immunology and Inflammation Branch and the Laboratory of Skin Biology. Place: National Institutes of Health, Building 31, 31...

  7. Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice.

    PubMed

    Meng, Xing-Li; Day, Taniqua S; McNeill, Nathan; Ashcraft, Paula; Frischmuth, Thomas; Cheng, Seng H; Liu, Zhi-Ping; Shen, Jin-Song; Schiffmann, Raphael

    2016-05-01

    Fabry disease is caused by deficient activity of α-galactosidase A and subsequent intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3). Vascular endothelial cells may play important roles in disease pathogenesis, and are one of the main target cell types in therapeutic interventions. In this study, we generated immortalized aortic endothelial cell lines from a mouse model of Fabry disease. These cells retained endothelial cell-specific markers and functions. Gb3 expression level in one of these clones (referred to as FMEC2) was highly susceptible to culture media, and appeared to be regulated by glucosylceramide synthase. Results also showed that Gb3 could be upregulated by hydrocortisone. FMEC2 express the mannose 6-phosphate receptor and sortilin but not the mannose receptor. Uptake studies suggested that sortilin plays a role in the binding and internalization of mammalian cell-produced α-galactosidase A. Moss-aGal (a plant-made enzyme) was endocytosed by FMEC2 via a receptor other than the aforementioned receptors. In conclusion, this study suggests that glucosylceramide synthase and hydrocortisone may play important roles in modulating Gb3 levels in Fabry mouse aortic endothelial cells, and that endocytosis of recombinant α-galactosidase A involves a combination of multiple receptors depending on the properties of the enzyme. PMID:26960552

  8. Three Cavity Tunable MEMS Fabry Perot Interferometer

    PubMed Central

    Parashar, Avinash; Shah, Ankur; Packirisamy, Muthukumaran; Sivakumar, Narayanswamy

    2007-01-01

    In this paper a four-mirror tunable micro electro-mechanical systems (MEMS) Fabry Perot Interferometer (FPI) concept is proposed with the mathematical model. The spectral range of the proposed FPI lies in the infrared spectrum ranging from 2400 to 4018 (nm). FPI can be finely tuned by deflecting the two middle mirrors (or by changing the three cavity lengths). Two different cases were separately considered for the tuning. In case one, tuning was achieved by deflecting mirror 2 only and in case two, both mirrors 2 and 3 were deflected for the tuning of the FPI.

  9. Characterization of the Skin Microbiota in Italian Stream Frogs (Rana italica) Infected and Uninfected by a Cutaneous Parasitic Disease.

    PubMed

    Federici, Ermanno; Rossi, Roberta; Fidati, Laura; Paracucchi, Romina; Scargetta, Silvia; Montalbani, Elena; Franzetti, Andrea; La Porta, Gianandrea; Fagotti, Anna; Simonceli, Francesca; Cenci, Giovanni; Di Rosa, Ines

    2015-01-01

    In human and wildlife populations, the natural microbiota plays an important role in health maintenance and the prevention of emerging infectious diseases. In amphibians, infectious diseases have been closely associated with population decline and extinction worldwide. Skin symbiont communities have been suggested as one of the factors driving the different susceptibilities of amphibians to diseases. The activity of the skin microbiota of amphibians against fungal pathogens, such as Batrachochytrium dendrobatidis, has been examined extensively, whereas its protective role towards the cutaneous infectious diseases caused by Amphibiocystidium parasites has not yet been elucidated in detail. In the present study, we investigated, for the first time, the cutaneous microbiota of the Italian stream frog (Rana italica) and characterized the microbial assemblages of frogs uninfected and infected by Amphibiocystidium using the Illumina next-generation sequencing of 16S rRNA gene fragments. A total of 629 different OTUs belonging to 16 different phyla were detected. Bacterial populations shared by all individuals represented only one fifth of all OTUs and were dominated by a small number of OTUs. Statistical analyses based on Bray-Curtis distances showed that uninfected and infected specimens had distinct cutaneous bacterial community structures. Phylotypes belonging to the genera Janthinobacterium, Pseudomonas, and Flavobacterium were more abundant, and sometimes almost exclusively present, in uninfected than in infected specimens. These bacterial populations, known to exhibit antifungal activity in amphibians, may also play a role in protection against cutaneous infectious diseases caused by Amphibiocystidium parasites. PMID:26370166

  10. Characterization of the Skin Microbiota in Italian Stream Frogs (Rana italica) Infected and Uninfected by a Cutaneous Parasitic Disease

    PubMed Central

    Federici, Ermanno; Rossi, Roberta; Fidati, Laura; Paracucchi, Romina; Scargetta, Silvia; Montalbani, Elena; Franzetti, Andrea; La Porta, Gianandrea; Fagotti, Anna; Simonceli, Francesca; Cenci, Giovanni; Di Rosa, Ines

    2015-01-01

    In human and wildlife populations, the natural microbiota plays an important role in health maintenance and the prevention of emerging infectious diseases. In amphibians, infectious diseases have been closely associated with population decline and extinction worldwide. Skin symbiont communities have been suggested as one of the factors driving the different susceptibilities of amphibians to diseases. The activity of the skin microbiota of amphibians against fungal pathogens, such as Batrachochytrium dendrobatidis, has been examined extensively, whereas its protective role towards the cutaneous infectious diseases caused by Amphibiocystidium parasites has not yet been elucidated in detail. In the present study, we investigated, for the first time, the cutaneous microbiota of the Italian stream frog (Rana italica) and characterized the microbial assemblages of frogs uninfected and infected by Amphibiocystidium using the Illumina next-generation sequencing of 16S rRNA gene fragments. A total of 629 different OTUs belonging to 16 different phyla were detected. Bacterial populations shared by all individuals represented only one fifth of all OTUs and were dominated by a small number of OTUs. Statistical analyses based on Bray-Curtis distances showed that uninfected and infected specimens had distinct cutaneous bacterial community structures. Phylotypes belonging to the genera Janthinobacterium, Pseudomonas, and Flavobacterium were more abundant, and sometimes almost exclusively present, in uninfected than in infected specimens. These bacterial populations, known to exhibit antifungal activity in amphibians, may also play a role in protection against cutaneous infectious diseases caused by Amphibiocystidium parasites. PMID:26370166

  11. Immunohistologic and ultrastructural study of the sclerotic skin in chronic graft-versus-host disease in man.

    PubMed Central

    Janin-Mercier, A.; Devergie, A.; Van Cauwenberge, D.; Saurat, J. H.; Bourges, M.; Lapiere, C. M.; Gluckman, E.

    1984-01-01

    Thirteen skin biopsies were performed on 8 patients at different stages of skin sclerosis in chronic graft-versus-host disease (GVHD). On the same skin biopsies an immunostaining with antibodies directed against Types I and III procollagen, Types I, III, IV, V collagen, and laminin, and an ultrastructural study were performed. Alterations were observed at the dermal-epidermal junction and in the superficial dermis with a large deposit on Type III procollagen in the incipient scleroses and of Type I procollagen in the oldest ones. In this sclerotic superficial dermis, collagen fibers of irregular diameter were associated with mast cells and active fibroblasts, macrophages, and lymphocytes in close contact. The skin sclerosis in chronic GVHD might be considered a form of cutaneous fibrosis with features of excessive tissue repair related to an immunologic reaction between lymphocytes of the graft and tissue host cells. Images Figure 6 Figure 7 Figure 1 Figure 2 Figure 3 Figure 4 Figure 5 Figure 8 PMID:6372497

  12. Study of Drug Utilization Pattern for Skin Diseases in Dermatology OPD of an Indian Tertiary Care Hospital - A Prescription Survey

    PubMed Central

    Pathak, Anuj Kumar; Kumar, Subodh; Kumar, Manish; Dikshit, Harihar

    2016-01-01

    Introduction Skin diseases are the major contributors of disease burden in society. It affects individuals of all ages, neonates to elderly. Owing to its chronic nature, it causes serious impact on quality of life and financial status of the sufferer and his family. The problem gets compounded with the inappropriate and irrational use of medicines. Periodic prescription audit in form of drug utilization study is a way to improve the quality of prescription and curb the menace of irrational prescribing which has become a global phenomenon. Aim This study aims to determine the drug utilization pattern and assess the economic burden of the patient with skin disease. Materials and Methods It was a prospective, cross-sectional study conducted over a period of three months from January to March 2015 in newly diagnosed cases attending outpatient department of Skin and VD, IGIMS, Patna. The prescriptions were analysed with the help of descriptive statistics and results were expressed in percentage. Results Total 752 prescriptions were analysed during the study. Male patients were lesser as compared to female as male to female ratio was 0.88. Over 50% of patients were in adolescent age group i.e. 21-40 years. Acne (17.95%) was most common disease in the study population followed by eczema and Dermatophytosis. Among the drugs, antihistaminics (24.13%) were prescribed most frequently followed by antifungals and antibiotics. Topical agents constituted almost 60% of the total prescription and average number of drugs per prescription was 5.13, irrespective of the dosage forms prescribed. Conclusion This drug utilization study provides an insight to the prescriber regarding various issues related to polypharmacy, cost analysis and prevalent disease pattern in the region. This study also suggests periodic evaluation of prescription pattern to monitor and improve quality of prescription in other departments of the hospital. PMID:27042479

  13. Tungiasis: a neglected epidermal parasitic skin disease of marginalized populations--a call for global science and policy.

    PubMed

    Karunamoorthi, Kaliyaperumal

    2013-10-01

    Tungiasis (sand flea disease) is an ectoparasitic skin disease caused by the female sand flea/jigger flea (Tunga penetrans). As poverty is the major driving force of the disease, it can be called as a poverty-associated plague. It is one of the emerging neglected diseases in Latin America, Caribbean, sub-Saharan Africa, and India. The aim of the present scrutiny was to assess the public health impact of tungiasis, associated risk factors, and emerging opportunities to prevent and control tungiasis. Searches of PubMed, Google Scholar, and online search engines (Google, AOL, and Yahoo) using keywords "parasitic skin disease," "tungiasis," "sand flea," " tungiasis-associated risk factors," "tungiasis prevention and control," and their synonyms were used as a source of references. Searches were made without time limitations. Of 167 potential articles identified by these criteria, 51 appropriate were selected for review. Tungiasis is widespread in the resource-constrained settings of low-income economies. In the tropics, it is highly prevalent among the impoverished populations, but the associated risk factors are often poorly identified and remain uncontrolled. Though it is a self-limiting disease with considerable morbidity, the parasite may cause subsequent secondary morbidity through life-threatening complications and infections like cellulitis, tetanus, and death. However, the direct and indirect sociocultural, economic, and health impact of tungiasis is often undervalued and misunderstood. A systematic assessment on disease burden is still dearth and deficient. Over the decades, tungiasis has been largely neglected by the scientific community, policy makers, and healthcare stakeholders. In the endemic regions, even tungiasis is not listed for the disease control priorities in the regional, national, and international agenda. The majority of the epidermal parasitic skin diseases particularly tungiasis needs a sustainable global scientific research and control

  14. The relevance of the IgG subclass of autoantibodies for blister induction in autoimmune bullous skin diseases

    PubMed Central

    Mihai, Sidonia; Zillikens, Detlef

    2007-01-01

    Autoimmune bullous skin diseases are characterized by autoantibodies and T cells specific to structural proteins maintaining cell–cell and cell–matrix adhesion in the skin. Existing clinical and experimental evidence generally supports a pathogenic role of autoantibodies for blister formation. These autoantibodies belong to several IgG subclasses, which associate with different functional properties and may thus determine the pathogenic potential of IgG antibodies. In pemphigus diseases, binding of IgG to keratinocytes is sufficient to cause intraepidermal blisters without engaging innate immune effectors and IgG4 autoantibodies seem to mainly mediate acantholysis. In contrast, in most subepidermal autoimmune blistering diseases, complement activation and recruitment and activation of leukocytes by autoantibodies are required for blister induction. In these conditions, tissue damage is thought to be mainly mediated by IgG1, but not IgG4 autoantibodies. This review summarizes the current knowledge on the pathogenic relevance of the IgG subclass of autoantibodies for blister formation. Characterization of the pathogenically relevant subclass(es) of autoantibodies not only provides mechanistic insights, but should greatly facilitate the development of improved therapeutic modalities of autoimmune blistering diseases. PMID:17277959

  15. Squamous cell skin cancer

    MedlinePlus

    ... cell; NMSC - squamous cell; Squamous cell skin cancer; Squamous cell carcinoma of the skin ... squamous cell cancer is called Bowen disease (or squamous cell carcinoma in situ). This type does not spread to ...

  16. CSD skin test

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/003385.htm CSD skin test To use the sharing features on this page, please enable JavaScript. The cat scratch disease (CSD) skin test was once used to help ...

  17. Quality of life of dogs with skin disease and of their owners. Part 2: administration of a questionnaire in various skin diseases and correlation to efficacy of therapy.

    PubMed

    Noli, Chiara; Colombo, Silvia; Cornegliani, Luisa; Ghibaudo, Giovanni; Persico, Paola; Vercelli, Antonella; Galzerano, Mario

    2011-08-01

    A previously validated 15-item questionnaire on dogs' life quality (QoL1) and that of their owners (QoL2) was applied in a multicentre study to owners of 200 dogs with different dermatological conditions, together with a question on the owner-perceived disease severity (S). Factor analysis was applied to the whole questionnaire. The correlation of S with QoL1 and QoL2 scores was evaluated using Spearman's rank correlation tests. Owner sex, age, educational level and willingness to pay for a potential definitive cure of the disease were recorded, and compared with quality of life (QoL) scores. In 23 atopic dogs, CADESI-03, pruritus Visual Analogue Scale and QoL scores were obtained before and after therapy, and their correlation was evaluated with linear regression. Factor analysis revealed that three factors (S, QoL1 and QoL2) explained 75% of the variance. Owner-perceived severity correlated significantly with QoL1 and QoL2 (P = 0.002 and P = 0.015, respectively). The five diseases with the worst QoL scores were scabies, pododermatitis, complicated atopic dermatitis, pemphigus foliaceus and endocrine alopecia. Pruritic diseases did not give significantly higher QoL1 or QoL2 scores compared with nonpruritic diseases (P = 0.19, Kruskall-Wallis test). Owner sex, age or educational level did not influence QoL scores. Female sex, a younger age and a higher educational level were significantly associated with more willingness to pay. In atopic dogs, all the scores decreased after therapy, but post-treatment CADESI-03 and Visual Analogue Scale scores did not correlate with QoL1 and QoL2. Questions related to the burden of maintenance therapy showed the lowest improvements in score. PMID:21435044

  18. Blood pressure manometer using a twin Bragg grating Fabry-Perot interferometer

    NASA Astrophysics Data System (ADS)

    van Brakel, Adriaan; Swart, Pieter L.; Chtcherbakov, Anatoli A.; Shlyagin, Mikhail G.

    2005-02-01

    We propose the use of optical fiber Bragg gratings in a non-invasive blood pressure waveform monitor. Bragg gratings can be written in a Fabry-Perot interferometric configuration to yield a method of strain measurement that has both a high resolution and a wide unambiguous range. This fiber Bragg grating Fabry-Perot interferometer (FBGI) can be used as a sensor to detect strain resulting from blood pressure applied to the walls of an artery situated near the patient"s skin. Strain measurements taken on the skin surface, typically over the radial artery at the wrist, are encoded as phase shifts of the FBGI signal. These phase shifts may be obtained by the analytic representation of the interferometer signal in the wavelength domain or by Fourier analysis in the frequency domain. For the proof of concept a realistic physical model was constructed to simulate pressure conditions at the actual sensor location. The operation of the device is demonstrated by measurements of pressure-pulse waveforms obtained in real-time. This sensor was also successfully tested on human patients, and these results are also presented. Since it yields continuous readings of blood pressure non-invasively, further application of the optical manometer may yield an alternative to conventional sphygmomanometry.

  19. Skin Dictionary

    MedlinePlus

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    MedlinePlus

    Skin transplant; Skin autografting; FTSG; STSG; Split thickness skin graft; Full thickness skin graft ... site. Most people who are having a skin graft have a split-thickness skin graft. This takes ...