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Sample records for acrodermatitis chronica atrophicans

  1. [Lyme disease acrodermitis chronica atrophicans: misleading vascular signs].

    PubMed

    Blaise, S; Fiandrino, G; Satger, B; Carpentier, P-H

    2014-05-01

    Lyme disease acrodermatitis chronica atrophicans is a tertiary form of Lyme borrelliosis. It occurs at least six months, but also up to several years, after a tick bite. This rare condition is probably underestimated because of the difficult diagnosis. Clinical presentations of acrodermatitis chronic atrophicans are quite variable depending upon the duration of the disease. Complimentary explorations are difficult to interpret and rarely specific. Only rare configurations allow formal diagnosis of Borrelia burgdoferi infection. We present a patient who exhibited an atypical clinical presentation of Lyme disease acrodermatitis chronic atrophicans. The clinical outcome was quite favorable with treatment, confirming the diagnosis. Such treatments, which are well tolerated and highly effective, are essential since an untreated disease can lead to potentially severe neurological involvement. PMID:24698204

  2. A Souvenir From France: Acrodermatitis Chronica Atrophicans Presenting in the United States.

    PubMed

    Correa-Selm, Lilia M; Bronsnick, Tara; Rao, Babar K; Kirkorian, A Yasmine; Marcus, Alan; Cha, Jisun

    2016-01-01

    A 70-year-old man was referred by his rheumatologist to our dermatology clinic for evaluation of dermatitis on his right arm that appeared 3 months earlier. The skin lesion was asymptomatic and the patient denied current systemic symptoms, including fever, chills, and joint pain; however, 10 months prior to this presentation he experienced arthritis in the left knee. At that time, Borrelia serology revealed positive IgG (6.07; <0.8 negative, 0.8 to 0.99 borderline, ≥1 positive) and negative IgM titers. The patient had not received treatment for Lyme disease in the past. He was referred to rheumatology for evaluation of possible Lyme disease but did not follow up until 10 months later. The arthritis has since resolved. He travels frequently to France and recalls multiple tick bites during these trips. PMID:27502263

  3. Acrodermatitis

    MedlinePlus

    ... and malaise . It may also be associated with hepatitis B and other viral infections. Causes Health care providers ... In Italian children, acrodermatitis is seen frequently with hepatitis B . But this link is rarely seen in the ...

  4. Acrodermatitis Enteropathica

    PubMed Central

    Nistor, Nicolai; Ciontu, Lavinia; Frasinariu, Otilia-Elena; Lupu, Vasile Valeriu; Ignat, Ancuta; Streanga, Violeta

    2016-01-01

    Abstract Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. We report a 14-month-old boy, admitted for erythematous, scaly and pustular lesions, initially located in the inguinal and perianal regions and on thighs, and very few erythematous lesions on the face. Due to the numerous bacterial skin superinfections with Staphylococcus aureus, including abscesses that required surgical incision, the clinical picture was modified, leading to a delayed establishment of the diagnosis. Later, the symptoms became suggestive for this disease, the diagnostic having been confirmed by low plasma zinc values. Under zinc therapy, skin lesions improved significantly in a few days, with favorable outcome. Two months later, the skin lesions almost disappeared. Abscesses due to bacterial skin superinfections may lead to initially misdiagnosed acrodermatitis enteropathica. PMID:27196457

  5. Acrodermatitis enteropathica with anorexia nervosa.

    PubMed

    Kim, Sang Tae; Kang, Jin Seuk; Baek, Jae Woo; Kim, Tae Kwon; Lee, Jin Woo; Jeon, Young Seung; Suh, Kee Suck

    2010-08-01

    Acrodermatitis enteropathica is a rare hereditary or acquired disorder of hypozincemia. It is characterized by acral and periorificial dermatitis, alopecia, diarrhea and growth retardation. Anorexia nervosa is characterized by low body weight, body image distortion with an obsessive fear and is also associated with various cutaneous findings including acrodermatitis enteropathica. We report a 37-year-old female with acrodermatitis enteropathica showing acquired zinc deficiency with anorexia nervosa. PMID:20649716

  6. Acrodermatitis Enteropathica: A Case Report.

    PubMed

    Nistor, Nicolai; Ciontu, Lavinia; Frasinariu, Otilia-Elena; Lupu, Vasile Valeriu; Ignat, Ancuta; Streanga, Violeta

    2016-05-01

    Acrodermatitis enteropathica is a rare genetic autosomal recessive disorder, characterized by periorificial dermatitis, alopecia, and diarrhea. It is caused by mutations in the gene that encodes a membrane protein that binds zinc. We report a 14-month-old boy, admitted for erythematous, scaly and pustular lesions, initially located in the inguinal and perianal regions and on thighs, and very few erythematous lesions on the face. Due to the numerous bacterial skin superinfections with Staphylococcus aureus, including abscesses that required surgical incision, the clinical picture was modified, leading to a delayed establishment of the diagnosis. Later, the symptoms became suggestive for this disease, the diagnostic having been confirmed by low plasma zinc values. Under zinc therapy, skin lesions improved significantly in a few days, with favorable outcome. Two months later, the skin lesions almost disappeared.Abscesses due to bacterial skin superinfections may lead to initially misdiagnosed acrodermatitis enteropathica. PMID:27196457

  7. A Case of Poikiloderma Vasculare Atrophicans

    PubMed Central

    Choi, Myoung-Soon; Lee, Jee-Bum; Kim, Seong-Jin; Lee, Seung-Chul; Won, Young-Ho

    2011-01-01

    Poikiloderma vasculare atrophicans (PVA) is a rare variant of mycosis fungoides, and is characterized by generalized hyperkeratotic scaly papules in net-like, retiform, or zebra-like patterns. A 59-year-old Korean woman presented with asymptomatic, erythematous-to-violaceous, reticulated confluent papules on the trunk and extremities. Skin lesions were initially limited to both thighs 25 years ago, and then spread slowly over her body. Histopathological examination showed band-like inflammatory infiltrations and epidermotropism consisting of mostly CD8+ lymphocytes. Based on the clinical manifestations and histological findings, the diagnosis of PVA was made. We herein report on a case of PVA, which featured a long-benign course without progression into the tumor stage over a period of 30 years. PMID:22028572

  8. Poikiloderma Vasculare Atrophicans: A Distinct Clinical Entity?

    PubMed Central

    Mahajan, Vikram K; Chauhan, Pushpinder S; Mehta, Karaninder S; Sharma, Anju Lath

    2015-01-01

    This paper describes a typical case of poikiloderma vasculare atrophicans (PVA) in a 48-year-old female. Histologically, the features were suggestive of PVA with the absence of Pautrier's microabscess or atypical lymphoid cells. The biopsy specimen was positive for cluster of differentiation (CD) 8 on immunohistochemical staining. Its exact pathogenesis remains obscure, and it remains unclear whether PVA actually is mycosis fungoides (MF), a forme fruste of MF, or a distinct and benign dermatosis with CD8+ phenotype that can perhaps be labeled as PVA. However, it has a long benign clinical course without progression to tumor stage of MF in most cases, and its status within the spectrum of cutaneous T-cell lymphoma remains poorly understood. Yet it is imperative to distinguish PVA from poikilodermic MF. PMID:25814753

  9. Acrodermatitis Continua of Hallopeau Successfully Treated with Adalimumab

    PubMed Central

    Anetakis Poulos, Georgann; Wong, Henry K.

    2012-01-01

    Acrodermatitis continua of Hallopeau, first described by Hallopeau in 1890, is an uncommon variant of pustular psoriasis. Acrodermatitis continua of Hallopeau presents as sterile pustules on the hands and feet. It has a relapsing course. Although acrodermatitis continua of Hallopeau is a pustular psoriasis variant, the condition is not easily treated with antipsoriatic medications. In the following case, the authors report a case of acrodermatitis continua of Hallopeau successfully treated with adalimumab. In addition, the cases of acrodermatitis continua of Hallopeau treated with tumor necrosis-alpha inhibitors are summarized. PMID:22468174

  10. Pityriasis lichenoides chronica in black patients.

    PubMed

    Lane, Tanda N; Parker, Sareeta S

    2010-03-01

    Pityriasis lichenoides chronica (PLC) is a cutaneous disease of unknown etiology that most commonly affects children and young adults. The highly variable presentation of this condition often poses a diagnostic challenge. The clinical presentation of PLC in black patients is not well described. We report a series of 5 black patients (4 children and 1 young adult) with PLC who presented with extensive hypopigmentation and prominent facial involvement. One patient had concomitant mycosis fungoides (MF). The diagnosis of PLC should be included in the differential diagnosis in dark-skinned patients who present with widespread hypopigmented macules and patches. The presence of MF in one of our patients underscores the potential relationship between MF and PLC. PMID:20408509

  11. [Clinical aspects of Borrelia burgdorferi infections].

    PubMed

    Neubert, U

    1989-08-15

    Skin lesions due to Borrelia burgdorferi-like erythema migrans, lymphadenosis cutis benigna, and acrodermatitis chronica atrophicans - are hall-marks of a systemic infection, which tends to a chronically relapsing course. Even if the skin lesions are missing, or disappear spontaneously, the infection may persist and affect other organs. This presumption is supported by the outcome of a long-term follow-up study on seropositive forest workers. In association with meningopolyneuritis (Garin-Bujadoux-Bannwarth disease) and acrodermatitis chronica atrophicans - myositis and fasciitis have been recently reported as further possible manifestations of Borrelia burgdorferi infection. Borrelial infection during pregnancy should promptly be treated with antibiotics in high dosages, in order to prevent maternal-fetal transmission of borrelial organisms resulting in stillbirth or congenital defects of the newborn. PMID:2678790

  12. Etanercept responsive acrodermatitis continua of Hallopeau: is a pattern developing?

    PubMed

    Bonish, Brian; Rashid, Rashid M; Swan, James

    2006-10-01

    Acrodermatitis continua of Hallopeau (ACH) is a rare disease. Little is known about its etiology or relative effectiveness of the various therapeutic approaches. However, in the literature a pattern seems to be developing on successfully treated patients using biologic therapies. Here, we further emphasize the potential breakthrough presented by the novel immune based therapies. This report consists of a case of etanercept responsive ACH along with a brief review of the literature. PMID:17039659

  13. Keratosis lichenoides chronica: Case-based review of treatment options.

    PubMed

    Pistoni, Federica; Peroni, Anna; Colato, Chiara; Schena, Donatella; Girolomoni, Giampiero

    2016-08-01

    Keratosis lichenoides chronica (KLC) is a rare dermatological condition characterized by keratotic papules arranged in a parallel linear or reticular pattern and facial lesions resembling seborrheic dermatitis or rosacea. The clinical, histological and therapeutic information on 71 patients with KLC retrieved through a PubMed search plus one our new case were analyzed. KLC affects patients of all ages, with a modest male predominance. Pediatric cases represent about one quarter of patients. Diagnosis is usually delayed and histologically confirmed. All patients have thick, rough and scaly papules and plaques arranged in a linear or reticular pattern, on limbs (>80%) and trunk (about 60%). Face involvement is described in two-thirds of patients. Lesions are usually asymptomatic or mildly pruritic. Other manifestations, such as palmoplantar keratoderma, mucosal involvement, ocular manifestations, nail dystrophy, are reported in 20-30% of patients. Children present more frequently alopecia. No controlled trials are available. Results from small case series or single case reports show that the best treatment options are phototherapy and systemic retinoids, alone or in combination, with nearly half of patients reaching complete remission. Systemic corticosteroids as well as antibiotics and antimalarials are not effective. PMID:26652284

  14. Acrodermatitis dysmetabolica in an infant with maple syrup urine disease.

    PubMed

    Flores, K; Chikowski, R; Morrell, D S

    2016-08-01

    Acrodermatitis dysmetabolica (AD) is a rare, newly termed, and poorly understood disease that appears to be clinically similar to acrodermatitis enteropathica (AE). Both diseases are characterized by the triad of periorificial and acral dermatitis, diarrhoea, and alopecia. Unlike AE, which is caused by zinc deficiency, AD is caused by numerous metabolic disorders. One such disorder is maple syrup urine disease (MSUD), a genetic deficiency of branched chain α-ketoacid dehydrogenase, the enzyme that degrades the branched-chain amino acids (BCAAs) isoleucine, leucine and valine. Treatment involves restricting BCAAs to prevent accumulation. We report a case of an infant being treated for MSUD, who developed the triad of AE/AD after a period of poor BCAA formula intake. The child was found to have low isoleucine and normal zinc levels. Increasing the isoleucine dose improved the eruption, thus the diagnosis of AD secondary to isoleucine deficiency was made. This case emphasizes the importance of carefully balancing BCAA levels while treating MSUD, as deficiency can precipitate AD. PMID:27334242

  15. [Lyme borreliosis].

    PubMed

    Weber, K

    1986-11-01

    Lyme borreliosis has in common features with another spirochetosis, syphilis, e.g. the development in three stages and the occurrence of reinfection and congenital infection. The European variant (erythema migrans disease in the broader sense) initially more often seems to have a mild course than in the United States, but lymphocytoma, Bannwarth syndrome and acrodermatitis chronica atrophicans seem to be more common in Europe. Administration of tetracycline for stage 1 and of parenteral penicillin G in high doses for stages 2 and 3 and during pregnancy is recommended. PMID:3542901

  16. Bilateral chondrodermatitis nodularis chronica helicis on the free border of the helix in a woman.

    PubMed

    Oelzner, Sophia; Elsner, Peter

    2003-10-01

    Chondrodermatitis nodularis chronica helicis is characterized by the presence of small, intensely painful nodules on the free border of the helix of the ear with unknown origin. The lesion is typically localized unilaterally on the right ear. Pressure and trauma may play a role. PMID:14512925

  17. A Case of Acrodermatitis Continua of Hallopeau Following Chronic Pustular Cheilitis.

    PubMed

    Arisi, Mariachiara; Rossi, Maria Teresa; Sala, Raffaella; Petrilli, Giulia; Marocolo, Daniela; Ungari, Marco; Facchetti, Fabio; Calzavara-Pinton, Pier Giacomo

    2016-03-01

    We describe the case of a young male affected by chronic pustular psoriasis of the lips that remained the only manifestation of acrodermatitis continua of Hallopeau (ACH) for years before the onset of the characteristic hand lesions. PMID:26920763

  18. Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease.

    PubMed

    Seyhan, Muammer Eşrefoğlu; Selimoğlu, Mukadder Ayşe; Ertekin, Vildan; Fidanoğlu, Osman; Altinkaynak, Sevin

    2006-01-01

    Acrodermatitis enteropathica-like eruptions, not related to zinc deficiency, have been rarely reported in some metabolic disorders. Reported patients usually had low levels of essential amino acids, particularly isoleucine. Here we report a girl who first presented with an acrodermatitis enteropathica-like eruption and eventually had the diagnosis of Hartnup disease with a normal isoleucine level. We discuss the probable cause of her skin lesions and the differential diagnosis with pellagra. PMID:16780476

  19. Zinc deficiency with acrodermatitis enteropathica-like eruption after pancreaticoduodenectomy.

    PubMed

    Yu, Hsin-Hsien; Shan, Yan-Shen; Lin, Pin-Wen

    2007-10-01

    Pancreaticoduodenectomy (PD) is the standard operation for periampullary lesions. Most reports have focused on the clinical outcome, complications and tumor recurrence after PD. Few studies have focused on the nutritional sequelae that result from the extended resection of the upper gastrointestinal tract and disruption of the normal physiologic process of digestion. Zinc is absorbed mainly in the duodenum and proximal jejunum, which are removed during PD. Herein, we report two patients who experienced zinc deficiency with acrodermatitis enteropathica-like eruption, alopecia, glossitis and nail dystrophy after PD. The lesions improved dramatically after supplementation with zinc sulfate, pancreatic enzyme and diet instructions. No symptoms related to zinc deficiency were noted on follow-up after nutritional instructions had been given to the patients. PMID:17964967

  20. Lichen sclerosus et atrophicans, scleroderma en coup de sabre and Lyme borreliosis

    PubMed Central

    Gubertini, Nicoletta; Bonin, Serena; Trevisan, Giusto

    2011-01-01

    Lichen sclerosus et atrophicans (LSA) is a chronic, inflammatory skin disease of unknown etiology, characterized by atrophy. We report a case of LSA with frontoparietal distribution, mimicking scleroderma en coup de sabre, causing scarring alopecia. The case was associated with Borrelia infection. The lesion improved with 2 cycles of antibiotic therapy with ceftriaxone 2 gr/day i.v for 21 days associated with UVA-1 therapy and local and systemic vitamin E supply (400 mg 2x/day per os for 3 months). This case stresses the importance of identifying clinical manifestations associated with Lyme disease and the use of tissue PCR to detect borrelial DNA in patients with these lesions, but characterized by negative serology for Borrelia. PMID:25386279

  1. Clinical spectrum of skin manifestations of Lyme borreliosis in 204 children in Austria.

    PubMed

    Glatz, Martin; Resinger, Astrid; Semmelweis, Kristina; Ambros-Rudolph, Christina M; Müllegger, Robert R

    2015-05-01

    The spectrum of skin manifestations of Lyme borreliosis in children is not well characterized. We conducted a retrospective study to analyze the clinical characteristics, seroreactivity to Borrelia burgdorferi sensu lato, and outcome after treatment in 204 children with skin manifestations of Lyme borreliosis seen in 1996-2011. Solitary erythema migrans was the most common manifestation (44.6%), followed by erythema migrans with multiple lesions (27%), borrelial lymphocytoma (21.6%), and acrodermatitis chronica atrophicans (0.9%). A collision lesion of a primary borrelial lymphocytoma and a surrounding secondary erythema migrans was diagnosed in 5.9% of children. Rate of seroreactivity to B. burgdorferi s.l. was lower in solitary erythema migrans compared to other diagnosis groups. Amoxicillin or phenoxymethylpenicillin led to complete resolution of erythema migrans within a median of 6 (solitary) and 14 days (multiple lesions), respectively, and of borrelia lymphocytoma within a median of 56 days. In conclusion, erythema migrans with multiple lesions and borrelial lymphocytoma appear to be more frequent in children than in adults, whereas acrodermatitis chronica atrophicans is a rarity in childhood. The outcome after antibiotic therapy was excellent in children, and appears to be better than in adults. PMID:25366035

  2. Poikiloderma Vasculare Atrophicans Showing Features of Ashy Dermatosis in the Beginning

    PubMed Central

    Jeon, Jiehyun; Kim, Joo Ha; Ahn, Jae Woo

    2015-01-01

    Poikiloderma vasculare atrophicans (PVA) is a rare poikilodermatous variant of early-stage mycosis fungoides characterized by generalized poikiloderma, atrophy, mottled dyspigmentation, and telangiectasia. In 2001, a 14-year-old male presented with asymptomatic brownish-gray polymorphic macules throughout the body with flexural accentuation. A skin biopsy showed increased melanophages with focal hydropic changes. Ashy dermatosis was considered a possible diagnosis. In 2005, the lesions began to show darkening and lichenification in the lower part of the trunk. In 2011, his skin showed definite poikilodermatous changes, and a biopsy showed band-like inflammatory infiltrations of atypical lymphocytes, epidermal atrophy, and epidermotropism of predominantly CD4-CD8+ atypical T cells. In addition, results of T-cell receptor gene rearrangement analysis were positive. Based on the aforementioned findings, he was diagnosed with PVA. If a patient shows long-standing and progressive hyperpigmentary skin changes, periodic follow-up and repeated skin biopsies are recommended to determine the underlying condition. PMID:25834361

  3. Zinc-deficiency acrodermatitis in a patient with chronic alcoholism and gastric bypass: a case report

    PubMed Central

    Shahsavari, Dariush; Ahmed, Zubair; Karikkineth, Ajoy; Williams, Richard; Zigel, Carlos

    2014-01-01

    Acquired adult-onset zinc deficiency is occasionally reported in patients with malnutrition states, such as alcoholism, or malabsorptive states, such as post-bariatric surgery. The defining symptoms of hypozincemia include a classic triad of necrolytic dermatitis, diffuse alopecia, and diarrhea. We report a case of zinc deficiency in a 39-year-old man with history of gastric bypass surgery and alcoholism. For this patient, severe hypozincemia confirmed acrodermatitis, and zinc supplementation was met with gradual improvement. PMID:25147643

  4. [Poriomania chronica?].

    PubMed

    Arenz, D

    2000-07-01

    Based on a case study and the classic French concept of "monomania," the development of the psychiatric term "poriomania" is discussed. It is suggested that poriomania should still be regarded as a specific psychopathological symptom that can be part of various syndromes. The fate of monomanias is shown using examples whose traits are followed according to modern operationalized classification systems. PMID:10989813

  5. Analysis of the Liver Soluble Proteome from Bull Terriers Affected with Inherited Lethal Acrodermatitis

    PubMed Central

    Mouat, Michael F.; Mauldin, Elizabeth A.; Casal, Margret L.

    2012-01-01

    Lethal acrodermatitis (LAD) is a genetic disease affecting bull terrier dogs. The phenotype is similar to that for acrodermatitis enteropathica in humans, but is currently without treatment. The purpose of the research presented here is to determine the biochemical defects associated with LAD using proteomic methodologies. Two affected (male and female) and one unaffected (male) bull terrier pups were euthanized at 14 weeks of age, their livers dissected and prepared for two-dimensional gel electrophoresis (2DE) and densitometry. Approximately 200 protein spots were observed. The density of the spots within each gel was normalized to the total spot volume of the gel; only those soluble liver protein spots that were consistently different in both of the livers of the affected pups compared to the unaffected pup were excised manually and submitted for MALDI mass spectrometry. Thirteen proteins were identified as differentially expressed in the affected, compared to the unaffected, pups. The proteins were involved in numerous cellular physiological functions, including chaperones, calcium binding, and energy metabolism, as well as being associated with the inflammatory response. Of note were haptoglobin, glutamine synthetase, prohibitin and keratin 10 which exhibited at least a 4-fold level of differential expression. These data represent the first proteomic analysis of this mutation. The differentially expressed proteins that were identified may be key in understanding the etiology of LAD, and may lead to diagnostic tools for its identification within the bull terrier population. PMID:17693109

  6. Clinical study of the relationship between Helicobacter pylori and chronic urticaria and prurigo chronica multiformis: effectiveness of eradication therapy for Helicobacter pylori.

    PubMed

    Akashi, Rei; Ishiguro, Naoko; Shimizu, Satoru; Kawashima, Makoto

    2011-08-01

    Eighty two patients with chronic urticaria and 17 patients with prurigo chronica multiformis were referred to our department from October 2004 to February 2007 and were tested for Helicobacter pylori antigen using the polyclonal H. pylori stool antigen test (enzyme-linked immunosorbent assay method). H. pylori antigen was detected in 25 (30.5%) of the 82 patients with chronic urticaria and in 10 (58.8%) of the 17 patients with prurigo chronica multiformis. Those findings were not significantly higher than the positive rate for H. pylori stool antigen in healthy age-matched controls. In patients positive for H. pylori antigen, seven of the 25 with chronic urticaria had complications of gastritis (six patients) or gastric ulcers (one patient). Three of the 10 patients with prurigo chronica multiformis had complications of gastritis (two patients) or gastric ulcers (one patient). We examined the therapeutic efficacy of antibacterial treatment for the 17 patients with chronic urticaria and the eight patients with prurigo chronica multiformis who were positive for H. pylori antigen and accepted the treatment based on informed consent. We evaluated the effectiveness of treatment by scoring the skin conditions and by using the Skindex-16, a measure of quality of life. The eradication therapy for H. pylori was more effective for treating prurigo chronica multiformis and the skin symptoms started to improve within 3-14 days after the therapy. However, that therapy was not always effective for treating chronic urticaria. We suggest that H. pylori may be an important pathogenetic factor, especially for prurigo chronica multiformis, and that eradication therapy should be considered to treat intractable cases. PMID:21352335

  7. Acute Diffuse and Total Alopecia of the Female Scalp Associated with Borrelia-Infection

    PubMed Central

    Bhardwaj, Ekta K; Trüeb, Ralph Michel

    2015-01-01

    A case of acute diffuse and total alopecia of the female scalp associated with Borrelia-infection (acrodermatitis chronica atrophicans) is presented. Today, acute diffuse and total alopecia of the female scalp is recognized as a distinct variant of alopecia areata (AA) predominantly observed in women. Cases of AA have formerly been reported in association with infections. AA is understood to represent an organ-specific autoimmune disease of the hair follicle. It is conceivable that the antigenic stimulus provided by the infection may act as a trigger for alopecia. Vice versa, alopecia may act as a marker for detection of undiagnosed infection. Treatment of the patient with intravenous ceftriaxone led to the resolution of cutaneous borreliosis, and in addition to topical clobetasol foam to complete recovery of hair. PMID:25878446

  8. The expanding spectrum of cutaneous borreliosis.

    PubMed

    Eisendle, K; Zelger, B

    2009-04-01

    The known spectrum of skin manifestations in cutaneous Lyme disease is continuously expanding and can not be regarded as completed. Besides the classical manifestations of cutaneous borreliosis like erythema (chronicum) migrans, borrelial lymphocytoma and acrodermatitis chronica atrophicans evidence is growing that at least in part also other skin manifestations, especially morphea, lichen sclerosus and cases of cutaneous B-cell lymphoma are causally related to infections with Borrelia. Also granuloma annulare and interstitial granulomatous dermatitis might be partly caused by Borrelia burgdorferi or similar strains. There are also single reports of other skin manifestations to be associated with borrelial infections like cutaneous sarcoidosis, necrobiosis lipoidica and necrobiotic xanthogranuloma. In addition, as the modern chameleon of dermatology, cutaneous borreliosis, especially borrelial lymphocytoma, mimics other skin conditions, as has been shown for erythema annulare centrifugum or lymphocytic infiltration (Jessner Kanof) of the skin. PMID:19357623

  9. Treatment of acrodermatitis continua with topical 8-methoxypsoralen plus local narrowband ultraviolet B phototherapy.

    PubMed

    Durmazlar, Selda Pelin Kartal; AKPINAR, Hatice; EREN, Cemile; ESKIOGLU, Fatma; TATLICAN, Semih

    2009-01-01

    Treatment of acrodermatitis continua of Hallopeau (ACH) is known to be difficult. A 24-year-old man presented with an 11-year history of recurrent flares of painful pustular and scaly lesions on the distal portion of his fingers and toes, with persistent nail dystrophy. Based on the clinical and histopathological findings, ACH was diagnosed. The patient was treated with topical 8-methoxypsoralen (8-MOP) without occlusion, plus local narrowband ultraviolet B (NB-UVB) phototherapy. The patient did not use any other medication between sessions except topical emollients. Ten weeks later, when the patient had received 20 sessions, almost all the lesions had cleared. We report the first case of ACH which successfully responded to treatment with 8-MOP/NB-UVB. PMID:19502154

  10. The successful use of etanercept in combination therapy for treatment of acrodermatitis continua of hallopeau.

    PubMed

    Kazinski, Kimberly; Joyce, Kathleen M; Hodson, Darryl

    2005-01-01

    Acrodermatitis continua of Hallopeau (ACH) is a rare form of pustular psoriasis which poses a challenge to treat and causes considerable pain and suffering for those afflicted. Tumor necrosis factor-alpha (TNF-alpha) is a pro-inflammatory cytokine involved in the pathogenesis of ACH and other forms of psoriasis. Inhibition of TNF-alpha has been shown to provide benefit in such inflammatory conditions as rheumatoid arthritis, psoriatic arthritis, and, most recently, plaque psoriasis. In this report, we present the case of a 65-year-old man with a 9-year history of recalcitrant ACH who demonstrated significant and sustained clinical improvement when etanercept, a competitive inhibitor of TNF-alpha, was added to his treatment regimen of acitretin and topical corticosteroids over a 12-week period. PMID:15898294

  11. Acrodermatitis Enteropathica: A Novel SLC39A4 Gene Mutation in a Patient with Normal Zinc Levels.

    PubMed

    Garza-Rodríguez, Verónica; de la Fuente-García, Alberto; Liy-Wong, Carmen; Küry, Sébastien; Schmitt, Sébastien; Jamall, Ijaz S; Ocampo-Candiani, Jorge

    2015-01-01

    Acrodermatitis enteropathica (AE) is a rare disease that results from a defective gene, SLC39A4, and is characterized by dermatitis, alopecia, and diarrhea. We report a case of AE presenting with only periorificial and acral dermatitis in which genetic testing revealed two novel compound heterozygous missense mutations for SLC39A4. This case demonstrates that not all AE mutations alter zinc transporters in the same manner and highlights the phenotypic variability of AE. PMID:25780817

  12. Clioquinol Synergistically Augments Rescue by Zinc Supplementation in a Mouse Model of Acrodermatitis Enteropathica

    PubMed Central

    Geiser, Jim; De Lisle, Robert C.; Finkelstein, David; Adlard, Paul A.; Bush, Ashley I.; Andrews, Glen K.

    2013-01-01

    Background Zinc deficiency due to poor nutrition or genetic mutations in zinc transporters is a global health problem and approaches to providing effective dietary zinc supplementation while avoiding potential toxic side effects are needed. Methods/Principal Findings Conditional knockout of the intestinal zinc transporter Zip4 (Slc39a4) in mice creates a model of the lethal human genetic disease acrodermatitis enteropathica (AE). This knockout leads to acute zinc deficiency resulting in rapid weight loss, disrupted intestine integrity and eventually lethality, and therefore provides a model system in which to examine novel approaches to zinc supplementation. We examined the efficacy of dietary clioquinol (CQ), a well characterized zinc chelator/ionophore, in rescuing the Zip4intest KO phenotype. By 8 days after initiation of the knockout neither dietary CQ nor zinc supplementation in the drinking water was found to be effective at improving this phenotype. In contrast, dietary CQ in conjunction with zinc supplementation was highly effective. Dietary CQ with zinc supplementation rapidly restored intestine stem cell division and differentiation of secretory and the absorptive cells. These changes were accompanied by rapid growth and dramatically increased longevity in the majority of mice, as well as the apparent restoration of the homeostasis of several essential metals in the liver. Conclusions These studies suggest that oral CQ (or other 8-hydroxyquinolines) coupled with zinc supplementation could provide a facile approach toward treating zinc deficiency in humans by stimulating stem cell proliferation and differentiation of intestinal epithelial cells. PMID:24015258

  13. The Use of Synchrotron Infrared Microspectroscopy in the Assessment of Cutaneous T-cell Lymphoma vs. Pityriasis lichenoides Chronica

    SciTech Connect

    El Bedewi, A.; El Anany, G; El Mofty, M; Kretlow, A; Park, S; Miller, L

    2010-01-01

    The diagnosis of cutaneous lymphomas remains a challenge for both the clinician and dermatopathologist. To differentiate between frank malignant and premalignant lymphocytes within the skin. This study was performed on 20 patients with a mean age of 50 years. They were divided into two groups: mycosis fungoides (MF) (stage IA, IB and IIA) and pityriasis lichenoides chronica (PLC). Immunophenotyping using antibodies CD3, CD4, CD8, CD20 and CD30 was performed. Synchrotron Fourier transform infrared microspectroscopy (S-FTIRM) was performed on cell nuclei to assess chemical differences between MF and PLC cases as a potential complementary screening tool. Dermal spectra of both MF and PLC were compared using principal components analysis (PCA) of the S-FTIRM data. All PLC spectra was clustered together. However, the MF spectra formed two clusters, one that grouped with the PLC and the other grouped separately. Moreover, protein and nucleic acids showed highly significant differences between MF (IIA and IB), MF (IA) and PLC. The malignant transformation within lymphocytes was identifiable through the spectroscopic analysis of protein, RNA and DNA with S-FTIRM, making it a promising tool for classifying the progression of cutaneous T-cell lymphoma.

  14. Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature.

    PubMed

    Ricci, G; Ferrari, S; Calamelli, E; Ricci, L; Neri, I; Patrizi, A

    2016-06-01

    Acrodermatitis enteropathic (AE) is a rare autosomal recessive disorder due to a zinc deficiency and characterized by a classical triad of symptoms: dermatitis, alopecia, and diarrhea. The defective gene is SLC39A4, which encodes a zinc transporter. Nevertheless many abnormalities in SLC39A4 have been relieved, only 50% of patients show alterations. Here is reported the case of an infant with mild and incomplete manifestations of AE, for whom the SLC39A4 genetic test was performed. A novel mutation in SLC39A4 was identified. Zinc replacement improved rapidly the skin lesions. Our case highlights the importance of suspecting this rare condition and to perform the genetic test even in those patients who do not fulfil the classical triad of symptoms. Further efforts should be addressed to identify a more strength correlation between genotype and phenotype of this disorder. PMID:26684640

  15. [The variable spectrum of cutaneous Lyme borreliosis. Diagnosis and therapy].

    PubMed

    Hofmann, H

    2012-05-01

    Lyme borreliosis can affect almost all human organs. Erythema migrans is the first and most frequent manifestation in 80-90% of patients in the early stage of localized skin infection. Besides the typical clinical appearance, many atypical variants can be observed. The solitary borrelial lymphocytoma is much less common and occurs mostly in children. Due to improvement in the early recognition of Lyme borreliosis, the diagnosis is made in the disseminated and late stage in only 10-20% of patients. Multiple erythemata migrantia indicating the hematogenous dissemination of B. burgdorferi remain frequently unrecognized. Late stages of infection feature chronic plasma-cell rich cutaneous inflammation and acrodermatitis chronica atrophicans in its edematous to atrophic forms. Cultivation or DNA detection of B. burgdorferi in skin biopsies are options to prove unusual skin manifestations. Serological detection of Borrelia-specific IgG- and IgM antibodies should be performed according to the two step protocol with ELISA and immunoassay according to the criteria of the MIQ 12. Serological tests have limited utility for follow-up. Antibiotic therapy is very effective if performed according to evidence-based protocols, such as the AWMF guidelines. PMID:22573314

  16. Chronic Lyme; diagnostic and therapeutic challenges.

    PubMed

    Ljøstad, U; Mygland, Å

    2013-01-01

    In this review, we aim to discuss the definition, clinical and laboratory features, diagnostics, and management of chronic Lyme. Chronic Lyme is a rare condition caused by long-lasting and ongoing infection with the spirochete Borrelia burgdorferi (Bb). The most common manifestations are progressive encephalitis, myelitis, acrodermatitis chronica atrophicans with or without neuropathy, and arthritis. Chronic Lyme is not considered to present with isolated subjective symptoms. Direct detection of Bb has low yield in most manifestations of chronic Lyme, while almost 100% of the cases are seropositive, that is, have detectable Bb IgG antibodies in serum. Detection of Bb antibodies only with Western blot technique and not with ELISA and detection of Bb IgM antibodies without simultaneous detection of Bb IgG antibodies should be considered as seronegativity in patients with long-lasting symptoms. Patients with chronic Lyme in the nervous system (neuroborreliosis) have, with few exceptions, pleocytosis and production of Bb antibodies in their cerebrospinal fluid. Strict guidelines should be applied in diagnostics of chronic Lyme, and several differential diagnoses, including neurological disease, rheumatologic disease, post-Lyme disease syndrome, chronic fatigue syndrome, and psychiatric disease, should be considered in the diagnostic workup. Antibiotic treatment with administration route and dosages according to current guidelines are recommended. Combination antimicrobial therapy or antibiotic courses longer than 4 weeks are not recommended. Patients who attribute their symptoms to chronic Lyme on doubtful basis should be offered a thorough and systematic diagnostic approach, and an open and respectful dialogue. PMID:23190290

  17. Lyme Borreliosis and Skin

    PubMed Central

    Vasudevan, Biju; Chatterjee, Manas

    2013-01-01

    Lyme disease is a multisystem illness which is caused by the strains of spirochete Borrelia burgdorferi sensu lato and transmitted by the tick, Ixodes. Though very commonly reported from the temperate regions of the world, the incidence has increased worldwide due to increasing travel and changing habitats of the vector. Few cases have been reported from the Indian subcontinent too. Skin manifestations are the earliest to occur, and diagnosing these lesions followed by appropriate treatment, can prevent complications of the disease, which are mainly neurological. The three main dermatological manifestations are erythema chronicum migrans, borrelial lymphocytoma and acrodermatitis chronica atrophicans. Many other dermatological conditions including morphea, lichen sclerosus and lately B cell lymphoma, have been attributed to the disease. Immunofluorescence and polymerase reaction tests have been developed to overcome the problems for diagnosis. Culture methods are also used for diagnosis. Treatment with Doxycycline is the mainstay of management, though prevention is of utmost importance. Vaccines against the condition are still not very successful. Hence, the importance of recognising the cutaneous manifestations early, to prevent systemic complications which can occur if left untreated, can be understood. This review highlights the cutaneous manifestations of Lyme borreliosis and its management. PMID:23723463

  18. Monoclonal antibodies for identification of Borrelia afzelii sp. nov. associated with late cutaneous manifestations of Lyme borreliosis.

    PubMed

    Canica, M M; Nato, F; du Merle, L; Mazie, J C; Baranton, G; Postic, D

    1993-01-01

    Borrelia isolates associated with Lyme borreliosis were previously divided into 3 genospecies, B. burgdorferi sensu stricto, B. garinii and group VS461, on the basis of DNA homology. B. burgdorferi sensu stricto and B. garinii were identified by monoclonal antibodies (MAbs), H3TS and D6 respectively, but no MAbs were available to identify group VS461. Two MAbs were produced, I 17.3 and J 8.3 which reacted with OspB and OspA proteins, respectively, of strains belonging to group VS461, which should be named B. afzelii sp. nov. 24 strains were assigned to B. afzelii sp. nov., 11 of them being isolated from skin lesions, 6 from acrodermatitis chronica atrophicans (ACA) and 5 from erythema chronicum migrans (ECM). Although quite unknown in the USA, ACA has frequently been reported in northern Europe where B. afzelii sp. nov. is commonly isolated. This study documents the involvement of B. afzelii sp. nov. as a specific aetiological agent of ACA. PMID:8248743

  19. Damage of Collagen and Elastic Fibres by Borrelia Burgdorferi – Known and New Clinical and Histopathological Aspects

    PubMed Central

    Müller, Kurt E

    2012-01-01

    Lyme Borreliosis, or Lyme’s disease, manifests itself in numerous skin conditions. Therapeutic intervention should be initiated as soon as a clinical diagnosis of erythema migrans is made. The histopathology of some of the skin conditions associated with Lyme Borreliosis is characterised by structural changes to collagen, and sometimes also elastic fibres. These conditions include morphea, lichen sclerosus et atrophicus and acrodermatitis chronica atrophicans. More recently, further skin conditions have been identified by the new microscopic investigation technique of focus floating microscopy: granuloma annulare, necrobiosis lipoidica, necrobiotic xanthogranuloma, erythema annulare centrifugum, interstitial granulomatous dermatitis, cutaneous sarcoidosis and lymphocytic infiltration; these conditions also sometimes cause changes in the connective tissue. In the case of ligaments and tendons, collagen and elastic fibres predominate structurally. They are also the structures that are targeted by Borrelia. The resultant functional disorders have previously only rarely been associated with Borreliosis in clinical practice. Ligamentopathies and tendinopathies, spontaneous ruptures of tendons after slight strain, dislocation of vertebrae and an accumulation of prolapsed intervertebral discs as well as ossification of tendon insertions can be viewed in this light. PMID:23986790

  20. Clinical Features of 705 Borrelia burgdorferi Seropositive Patients in an Endemic Area of Northern Italy

    PubMed Central

    Ruscio, Maurizio; Trotter, Davide

    2014-01-01

    Background. Lyme Borreliosis is a multisystemic infection caused by spirochetes of Borrelia burgdorferi sensu lato complex. The features of Lyme Borreliosis may differ in the various geographical areas, primarily between the manifestations found in America and those found in Europe and Asia. Objective. to describe the clinical features of Lyme Borreliosis in an endemic geographic area such as Friuli-Venezia Giulia in the Northeastern part of Italy. Methods. The medical records of patients resulted seropositive for Borrelia burgdorferi have been retrospectively recorded and analyzed. Results. Seven hundred and five patients met the inclusion criteria, 363 males and 342 females. Erythema migrans was the most common manifestation, detected in 437 patients. Other classical cutaneous manifestations included 58 cases of multiple erythema migrans, 7 lymphadenosis benigna cutis, and 18 acrodermatitis chronica atrophicans. The musculoskeletal system was involved in 511 patients. Four hundred and sixty patients presented a neurological involvement. Flu-like symptoms preceded or accompanied or were the only clinical feature in 119 patients. Comments. The manifestations of Lyme borreliosis recorded in this study are similar to the ones of other endemic areas in Europe, even if there are some peculiar features which are different from those reported in Northern Europe and in the USA. PMID:24550705

  1. Damage of collagen and elastic fibres by borrelia burgdorferi - known and new clinical and histopathological aspects.

    PubMed

    Müller, Kurt E

    2012-01-01

    Lyme Borreliosis, or Lyme's disease, manifests itself in numerous skin conditions. Therapeutic intervention should be initiated as soon as a clinical diagnosis of erythema migrans is made. The histopathology of some of the skin conditions associated with Lyme Borreliosis is characterised by structural changes to collagen, and sometimes also elastic fibres. These conditions include morphea, lichen sclerosus et atrophicus and acrodermatitis chronica atrophicans. More recently, further skin conditions have been identified by the new microscopic investigation technique of focus floating microscopy: granuloma annulare, necrobiosis lipoidica, necrobiotic xanthogranuloma, erythema annulare centrifugum, interstitial granulomatous dermatitis, cutaneous sarcoidosis and lymphocytic infiltration; these conditions also sometimes cause changes in the connective tissue. In the case of ligaments and tendons, collagen and elastic fibres predominate structurally. They are also the structures that are targeted by Borrelia. The resultant functional disorders have previously only rarely been associated with Borreliosis in clinical practice. Ligamentopathies and tendinopathies, spontaneous ruptures of tendons after slight strain, dislocation of vertebrae and an accumulation of prolapsed intervertebral discs as well as ossification of tendon insertions can be viewed in this light. PMID:23986790

  2. Nilontinib induced keratosis pilaris atrophicans.

    PubMed

    Khetarpal, Shilpi; Sood, Apra; Billings, Steven D

    2016-01-01

    Keratosis pilaris (KP) is a disorder of follicular keratinization that is characterized by keratin plugs in the hair follicles with surrounding erythema. A 46-year-old man with chronic myelogenous leukemia (CML) was started on nilotinib, a second generation tyrosine kinase inhibitor (TKI). Two months later the patient noticed red bumps on the skin and patchy hair loss on the arms, chest, shoulders, back, and legs. Cutaneous reactions to nilotinib are the most frequent non-hematologic adverse effects reported. However, it is important to distinguish KP-like eruptions from more severe drug hypersensitivity eruptions, which can necessitate discontinuing the medication. Also, it is important to classify the cutaneous eruptions in patients on TKI according to the morphology instead of labeling them all as "chemotherapy eruption" to be able to better manage these adverse effects. PMID:27617940

  3. Interactions between zinc, essential fatty acids and prostaglandins: relevance to acrodermatitis enteropathica, total parenteral nutrition, the glucagonoma syndrome, diabetes, anorexia nervosa and sickle cell anaemia.

    PubMed

    Horrobin, D F; Cunnane, S C

    1980-03-01

    Many of the features of zinc deficiency and of essential fatty acid (EFA) deficiency are similar in both animals and humans. The two agents interact in various ways. EFAs are important in zinc absorption, probably after conversion to prostaglandins (PGs). Zinc seems necessary for at least two stages in EFA metabolism, the conversion of linoleic acid to gamma-linolenic acid, and the mobilisation of dihomogammalinolenic acid (DGLA) for the synthesis of 1 series PGs. Zinc may also be important in the conversion of DGLA to arachidonic acid and in arachidonic acid mobilisation for 2 series PG formation. These interactions shed considerable light on a number of clinical syndromes, including acrodermatitis enteropathica, total parenteral nutrition, diabetes mellitus, the glucagonoma syndrome and sickle cell anaemia. There is substantial evidence to suggest that anorexia nervosa is due to a combined deficiency of zinc and EFAs. Understanding of the roles of zinc and EFAs in these various clinical situations is likely to lead to improved therapy. PMID:6253772

  4. Diagnostic Value of PCR for Detection of Borrelia burgdorferi in Skin Biopsy and Urine Samples from Patients with Skin Borreliosis

    PubMed Central

    Brettschneider, S.; Bruckbauer, H.; Klugbauer, N.; Hofmann, H.

    1998-01-01

    Skin biopsies of 36 patients with erythema migrans and acrodermatitis chronica atrophicans (ACA) before therapy and those of 8 patients after therapy were examined for Borrelia burgdorferi DNA by PCR. Skin biopsies of 27 patients with dermatological diseases other than Lyme borreliosis and those of 10 healthy persons were examined as controls. Two different primer sets targeting 23S rRNA (PCR I) and 66-kDa protein (PCR II) genes were used. PCR was performed with freshly frozen tissue (FFT) and paraffin-embedded tissue (PET). For FFT specimens of erythema migrans, 73% were positive by PCR I, 79% were positive by PCR II, and 88% were positive by combining PCR I and II. For PET specimens, PCR was less sensitive (PCR I, 44%; PCR II, 52%). For FFT specimens of ACA, PCR I was positive for two of five patients and PCR II was positive for four of five patients. B. burgdorferi was cultured from 79% of the erythema migrans specimens but not from any of the ACA lesions. Elevated B. burgdorferi antibodies were detected in sera of 74% of erythema migrans patients and 100% of ACA patients. All urine samples were negative by PCR II, whereas PCR I was positive for 27%. However, hybridization of these amplicons was negative. Sequencing of three amplicons identified nonborrelial DNA. In conclusion, urine PCR is not suitable for the diagnosis of skin borreliosis. A combination of two different primer sets achieves high sensitivity with skin biopsies. In early erythema migrans infection, culture and PCR are more sensitive than serology. PMID:9705410

  5. Antibody profile to Borrelia burgdorferi in veterinarians from Nuevo León, Mexico, a non-endemic area of this zoonosis

    PubMed Central

    Skinner-Taylor, Cassandra M.; Salinas, José A.; Arevalo-Niño, Katiushka; Galán-Wong, Luis J.; Maldonado, Guadalupe; Garza-Elizondo, Mario A.

    2016-01-01

    Objectives Lyme disease is a tick-borne disease caused by infections with Borrelia. Persons infected with Borrelia can be asymptomatic or can develop disseminated disease. Diagnosis and recognition of groups at risk of infection with Borrelia burgdorferi is of great interest to contemporary rheumatology. There are a few reports about Borrelia infection in Mexico, including lymphocytoma cases positive to B. burgdorferi sensu stricto by PCR and a patient with acrodermatitis chronica atrophicans. Veterinarians have an occupational risk due to high rates of tick contact. The aim of this work was to investigate antibodies to Borrelia in students at the Faculty of Veterinary Medicine and Zootechnics, at Nuevo León, Mexico, and determine the antibody profile to B. burgdorferi antigens. Material and methods Sera were screened using a C6 ELISA, IgG and IgM ELISA using recombinant proteins from B. burgdorferi, B. garinii and B. afzelii. Sera with positive or grey-zone values were tested by IgG Western blot to B. burgdorferi sensu stricto. Results All volunteers reported tick exposures and 72.5% remembered tick bites. Only nine persons described mild Lyme disease related symptoms, including headaches, paresthesias, myalgias and arthralgias. None of the volunteers reported erythema migrans. Nine samples were confirmed by IgG Western blot. The profile showed 89% reactivity to OspA, 67% to p83, and 45% to BmpA. Conclusions Positive sera samples shared antibody reactivity to the markers of late immune response p83 and BmpA, even if individuals did not present symptoms of Lyme arthritis or post-Lyme disease. The best criterion to diagnose Lyme disease in our country remains to be established, because it is probable that different strains coexist in Mexico. This is the first report of antibodies to B. burgdorferi in Latin American veterinarians. Veterinarians and high-risk people should be alert to take precautionary measures to prevent tick-borne diseases. PMID:27504018

  6. Clinical features of early erythema migrans disease and related disorders.

    PubMed

    Weber, K; Neubert, U

    1986-12-01

    104 patients with erythema migrans disease (EMD), 7 patients with borrelia lymphocytoma (BL), and 21 patients with acrodermatitis chronica atrophicans (ACA) were prospectively followed for a median of 20, 14, and 12 months, respectively. 99 patients with EMD and 6 with BL were treated with antibiotics early for their illness. 72 patients with EMD had 1 to 10 constitutional symptoms besides the erythema migrans, 32 had erythema migrans alone, and a child with BL had urticaria. Out of 39 patients with EMD, 23 acquired arthralgia, 18 signs and symptoms consistent with neurologic manifestations and 8 with cardiac involvement before or after therapy. 4 patients with EMD and 1 with BL had up to 10 multiple erythema migrans lesions. 3 patients with EMD experienced a reinfection and 1 with ACA a relapse. Several patients with ACA developed signs and symptoms consistent with neurologic, cardiac and joint involvement, and 2 had a history of EMD. Elevated antibody titers against Borrelia burgdorferi were present in 48% of 69 patients with EMD, 5 with BL and 11 with ACA, and in 93% of another group with EMD, 2 with BL and 10 with ACA, when tested against other borreliae. Increased values of the ESR, IgG, IgA and IgM were found in more patients with ACA than with EMD. The median of IgA and IgM was significantly higher in ACA than in EMD. Borreliae were found in brain and liver of a newborn. Early EMD appears to be quite similar to early Lyme disease. PMID:3577481

  7. Gender disparity between cutaneous and non-cutaneous manifestations of Lyme borreliosis.

    PubMed

    Strle, Franc; Wormser, Gary P; Mead, Paul; Dhaduvai, Kanthi; Longo, Michael V; Adenikinju, Omosalewa; Soman, Sandeep; Tefera, Yodit; Maraspin, Vera; Lotrič-Furlan, Stanka; Ogrinc, Katarina; Cimperman, Jože; Ružić-Sabljić, Eva; Stupica, Daša

    2013-01-01

    Cutaneous manifestations of Lyme borreliosis in Europe include erythema migrans (EM) and acrodermatitis chronica atrophicans (ACA); the most common non-cutaneous manifestations are Lyme neuroborreliosis (LNB) and Lyme arthritis. The purpose of this study was to evaluate the gender distribution of patients with these clinical manifestations of Lyme borreliosis. Data on gender were obtained from the clinical records of patients with Lyme borreliosis aged ≥15 years who had been evaluated at the University Medical Center Ljubljana, Ljubljana, Slovenia. Among 10,539 patients diagnosed with EM, 6,245 (59.3%) were female and among 506 ACA patients 347 (68.6%) were female. In contrast, among the 60 patients with Lyme arthritis only 15 (25%) were female (p<0.0001 for the comparison of gender with EM or ACA) and among the 130 patients with LNB only 51 (39.2%) were females (p<0.0001for the comparison of gender with EM or ACA). Although the proportion that was female in the LNB group was greater than that of patients with Lyme arthritis, this difference did not reach statistical significance (p = 0.10). Although older individuals are more likely to be female in the general Slovenian population, the age of patients with cutaneous versus non-cutaneous manifestations was not the explanation for the observed differences in gender. In conclusion, patients with cutaneous manifestations of Lyme borreliosis were predominantly female, whereas those with non-cutaneous manifestations were predominantly male. This provocative finding is unexplained but may have direct relevance to the pathogenesis of Lyme borreliosis. PMID:23737968

  8. Imbalanced presence of Borrelia burgdorferi s.l. multilocus sequence types in clinical manifestations of Lyme borreliosis.

    PubMed

    Coipan, E Claudia; Jahfari, Setareh; Fonville, Manoj; Oei, G Anneke; Spanjaard, Lodewijk; Takumi, Katsuhisa; Hovius, Joppe W R; Sprong, Hein

    2016-08-01

    In this study we used typing based on the eight multilocus sequence typing scheme housekeeping genes (MLST) and 5S-23S rDNA intergenic spacer (IGS) to explore the population structure of Borrelia burgdorferi sensu lato isolates from patients with Lyme borreliosis (LB) and to test the association between the B. burgdorferi s.l. sequence types (ST) and the clinical manifestations they cause in humans. Isolates of B. burgdorferi from 183 LB cases across Europe, with distinct clinical manifestations, and 257 Ixodes ricinus lysates from The Netherlands, were analyzed for this study alone. For completeness, we incorporated in our analysis also 335 European B. burgdorferi s.l. MLST profiles retrieved from literature. Borrelia afzelii and Borrelia bavariensis were associated with human cases of LB while Borrelia garinii, Borrelia lusitaniae and Borrelia valaisiana were associated with questing I. ricinus ticks. B. afzelii was associated with acrodermatitis chronica atrophicans, while B. garinii and B. bavariensis were associated with neuroborreliosis. The samples in our study belonged to 251 different STs, of which 94 are newly described, adding to the overall picture of the genetic diversity of Borrelia genospecies. The fraction of STs that were isolated from human samples was significantly higher for the genospecies that are known to be maintained in enzootic cycles by mammals (B. afzelii, B. bavariensis, and Borrelia spielmanii) than for genospecies that are maintained by birds (B. garinii and B. valaisiana) or lizards (B. lusitaniae). We found six multilocus sequence types that were significantly associated to clinical manifestations in humans and five IGS haplotypes that were associated with the human LB cases. While IGS could perform just as well as the housekeeping genes in the MLST scheme for predicting the infectivity of B. burgdorferi s.l., the advantage of MLST is that it can also capture the differential invasiveness of the various STs. PMID:27125686

  9. Acrodermatitis enteropathica and other nutritional diseases of the folds (intertriginous areas).

    PubMed

    Lakdawala, Nikita; Grant-Kels, Jane M

    2015-01-01

    The appropriate intake and metabolism of vitamins and minerals are critical to maintaining homeostasis. Imbalance in essential nutrients, either through dietary excess or deficiency or disorders in metabolism, can result in a spectrum of dermatologic and systemic manifestations. Certain nutrient deficiencies produce a characteristic pattern of cutaneous eruption. Recognition of these patterns is important, as they can alert the physician to an underlying nutritional disease. We review nutritional diseases involving zinc, biotin, essential fatty acids, vitamin B6 (pyridoxine), and riboflavin that present specifically with intertriginous eruptions. PMID:26051055

  10. [Chronic lichenoid keratosis].

    PubMed

    Skorupka, M; Kuhn, A; Mahrle, G

    1992-02-01

    We report on a 41-year-old woman with keratosis lichenoides chronica, a disorder first described by Kaposi in 1886 as "lichen moniliformis", who later also developed chronic lymphatic leukaemia. Since Kaposi's original report, 38 additional cases have been reported. Occurrence of keratosis lichenoides chronica associated with malignant disorders has not previously been described. PMID:1548136

  11. Hartnup disease masked by kwashiorkor.

    PubMed

    Orbak, Zerrin; Ertekin, Vildan; Selimoglu, Ayse; Yilmaz, Nebahat; Tan, Huseyin; Konak, Murat

    2010-08-01

    This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. This case with kwashiorkor had acrodermatitis enteropathica-like desquamative skin eruption. Since zinc level was in the normal range, investigation for a metabolic disorder was considered, and Hartnup disease was diagnosed. PMID:20824986

  12. Hartnup Disease Masked by Kwashiorkor

    PubMed Central

    Ertekin, Vildan; Selimoglu, Ayse; Yilmaz, Nebahat; Tan, Huseyin; Konak, Murat

    2010-01-01

    This report describes an 11-month old girl with Hartnup disease presenting with kwashiorkor and acrodermatitis enteropathica-like skin lesions but free of other clinical findings. This case with kwashiorkor had acrodermatitis enteropathica-like desquamative skin eruption. Since zinc level was in the normal range, investigation for a metabolic disorder was considered, and Hartnup disease was diagnosed. PMID:20824986

  13. Hypertrophic Lichenoid Eruption in a Child Successfully Treated Using Acitretin and Surgery: A Case Report and Literature Review.

    PubMed

    Geng, Songmei; Liu, Yanting; Wang, Hao; Yan, Huling; Niu, Xinwu; Toyohara, Jennifer P; Xiao, Shengxiang

    2015-01-01

    A 9-year-old boy presented with a history of keratotic violaceous plaques on the limbs and face for 8 years that had gradually progressed to erosive nodules on the extremities for 2 years. Several biopsies revealed hyperkeratosis, liquefactive degeneration of the basal layer, and a bandlike predominantly lymphocytic infiltrate. Based on the clinical and histologic findings, the patient was diagnosed with keratosis lichenoides chronica, a rare chronic dermatosis that is particularly uncommon in childhood. There are fewer than 20 reported cases of pediatric-onset keratosis lichenoides chronica in the current literature, with occurrence of pseudoepitheliomatous hyperplasia of primary keratosis lichenoides chronica lesions being even rarer. Here we present a unique pediatric-onset case accompanied by pseudoepitheliomatous hyperplasia that posed a significant treatment challenge to dermatologists. Significant improvement in the pseudoepitheliomatous skin lesions was achieved after treatment with oral acitretin capsules and surgical excision with skin grafting. PMID:26227743

  14. Acquired Zinc Deficiency in an Adult Female

    PubMed Central

    Saritha, Mohanan; Gupta, Divya; Chandrashekar, Laxmisha; Thappa, Devinder M; Rajesh, Nachiappa G

    2012-01-01

    Acrodermatitis enteropathica is an autosomal recessive inherited disorder of zinc absorption. Acquired cases are reported occasionally in patients with eating disorders or Crohn's disease. We report a 24-year-old housewife with acquired isolated severe zinc deficiency with no other comorbidities to highlight the rare occurrence of isolated nutritional zinc deficiency in an otherwise normal patient. PMID:23248371

  15. [Effect of recombinant interleukin-1 beta on microbial flora of the middle ear in patients with chronic purulent otitis media].

    PubMed

    Riazantsev, S V; Chernushevich, I I

    2000-01-01

    Betaleukin was given to 60 patients with various forms of otitis media purulenta chronica (OMPC). Symptoms of the purulent exacerbation were relieved in 43.3% of the patients, the clinical course improved in 18.3%. No response was achieved in 40% of the treated patients. Betaleukin proved highly effective in management of exacerbations of uncomplicated OMPC though it has no direct antimicrobial activity. PMID:10846490

  16. Mycosis fungoides: classic disease and variant presentations.

    PubMed

    Howard, M S; Smoller, B R

    2000-06-01

    Mycosis fungoides is a peripheral non-Hodgkin's T-cell neoplastic process, representing the most common type of primary cutaneous malignant lymphoma. Neoplastic lesions classically show skin predilection and characteristic clinical and histologic features in patch, plaque, and tumor stages. In addition, several clinicopathologic variants of mycosis fungoides have been delineated, including poikiloderma atrophicans vasculare (parapsoriasis variegata), Sézary syndrome, granulomatous mycosis fungoides, hypopigmented mycosis fungoides, folliculocentric mycosis fungoides, syringotropic mycosis fungoides, and Woringer Kolopp disease. We will review the salient features of patch, plaque, and tumor stage mycosis fungoides in this article and follow with a discussion of these variant clinicopathologic presentations and of therapeutic modalities. PMID:10892710

  17. Cutaneous findings of nutritional deficiencies in children.

    PubMed

    Goskowicz, M; Eichenfield, L F

    1993-08-01

    Nutritional deficiencies may be associated with a variety of cutaneous findings in children. This review emphasizes new developments relating to cutaneous findings of nutritional deficiencies. Zinc deficiency, acrodermatitis enteropathica, and acrodermatitis enteropathica-like eruptions are seen with a variety of conditions including cystic fibrosis, anorexia nervosa, and breastfeeding. Similar cutaneous findings not related to zinc deficiency may also occur with such metabolic disorders as methylmalonic aciduria, multiple carboxylase deficiency, essential fatty acid deficiency and other amino acid deficiencies. Vitamin K deficiency is associated with hemorrhagic disease of the newborn and coagulopathy. Vitamin A deficiency presents with a variety of systemic findings and distinctive dermatologic findings. Acute vitamin A deficiency may be seen in children infected with measles and is associated with more severe disease. The systemic and cutaneous findings of vitamin C deficiency, scurvy, are discussed. PMID:8374671

  18. Digit loss due to Demodex spp. infestation in a dog: clinical and pathological features.

    PubMed

    Grandi, F; Pasternak, A; Beserra, H E O

    2013-01-01

    Here we describe a rare clinical manifestation of canine pododemodicosis. A dog was presented with pedal erythema, scaling, crusting, severe edema and digit loss. The following diseases were taken into account for the differential diagnosis: pododemodicosis, lethal acrodermatitis, zinc responsive dermatosis and pemphigus foliaceus. Results from skin biopsies revealed the presence of Demodex spp. of mites in the follicular infundibula and a severe inflammatory process (pododemodicosis). Upon the acaricidal treatment, the patient exhibited favorable signs of clinical improvement. PMID:26623312

  19. Digit loss due to Demodex spp. infestation in a dog: clinical and pathological features

    PubMed Central

    Grandi, F.; Pasternak, A.; Beserra, H.E.O.

    2013-01-01

    Here we describe a rare clinical manifestation of canine pododemodicosis. A dog was presented with pedal erythema, scaling, crusting, severe edema and digit loss. The following diseases were taken into account for the differential diagnosis: pododemodicosis, lethal acrodermatitis, zinc responsive dermatosis and pemphigus foliaceus. Results from skin biopsies revealed the presence of Demodex spp. of mites in the follicular infundibula and a severe inflammatory process (pododemodicosis). Upon the acaricidal treatment, the patient exhibited favorable signs of clinical improvement. PMID:26623312

  20. Acquired protein energy malnutrition in glutaric acidemia.

    PubMed

    Ma, Liqiao; Savory, Stephanie; Agim, Nnenna G

    2013-01-01

    We report a case of acquired protein energy malnutrition with associated zinc deficiency in an 18-month-old boy with type 1 glutaric acidemia. Physical examination findings included generalized nonpitting edema, widespread desquamative plaques, and sparse hair with a reddish tinge. Laboratory abnormalities included low levels of zinc, albumin, alkaline phosphatase, and iron. A review of skin manifestations of nutritional deficiencies, specifically kwashiorkor, is presented, as well as the relatively new entity called acrodermatitis dysmetabolica. PMID:23330977

  1. Kwashiorkor-like zinc deficiency syndrome in anorexia nervosa.

    PubMed

    Esca, S A; Brenner, W; Mach, K; Gschnait, F

    1979-01-01

    This report deals with a 26-year-old white woman exhibiting signs of both Kwashiorkor (marasmus, pallor, hypopigmentation of hair and hepatomegaly) and acrodermatitis enteropathica (eczematous dermatitis predominantly on acral areas). Clinical and laboratory examinations excluded malabsorption syndrome and glucagonoma syndrome and revealed hypoproteinemia and marked zinc deficiency. Psychiatric examination disclosed anorexia nervosa. Substitution therapy led to rapid clearing of the skin lesions. PMID:92154

  2. Acquired zinc deficiency in association with anorexia nervosa: case report and review of the literature.

    PubMed

    Van Voorhees, A S; Riba, M

    1992-09-01

    Zinc deficiency, whether a result of an acquired or inherited abnormality of zinc metabolism, is associated with characteristic cutaneous findings. The inherited variety is known as acrodermatitis enteropathica. We present a case of zinc deficiency secondary to starvation induced by anorexia nervosa. Since the cutaneous stigmata of zinc deficiency and anorexia nervosa can initially be subtle and occasionally overlap, we believe that screening zinc levels in patients with anorexia nervosa with prominent cutaneous findings should be considered. PMID:1488378

  3. Origin Use of CD4, CD8, and CD1a Immunostains in Distinguishing Mycosis Fungoides from its Inflammatory Mimics: A Pilot Study

    PubMed Central

    Tirumalae, Rajalakshmi; Panjwani, Poonam K

    2012-01-01

    Patch-stage/early mycosis fungoides (MF) is difficult to differentiate from benign dermatoses, despite several robust histologic criteria. Most studies include advanced lesions and data about early disease is limited. Objectives: (1) To compare the CD4:CD8 ratio in patch-stage MF versus inflammatory mimics. (2) To study patterns of CD1a expression in the epidermis and dermis in the two groups. Materials and Methods: Twenty cases each of early MF and inflammatory dermatoses were selected. The diagnoses were established after clinicopathologic correlation, repeat biopsies, and follow-up. The inflammatory group included pityriasis lichenoides chronica, actinic reticuloid, lichenoid purpura, and various psoriasiform dermatoses. Immunohistochemistry was done for CD4, CD8, and CD1a. Epidermal CD4, CD8 cells were quantified and CD1a was graded semi-quantitatively in the epidermis and dermis. Results: The average CD4:CD8 ratio was 4.2 in MF (range: 1-16.8), and 0.9 in inflammatory diseases (range: 0.43-5), which was statistically significant (P < 0.0001). None of the MF cases had a ratio <1. Four cases of pityriasis lichenoides chronica had a ratio >1. CD1a cells had a continuous or confluent epidermal pattern in almost all cases of MF, while they occurred as small or large groups in the dermis. In inflammatory dermatoses, there were either isolated or scattered CD1a+ cells in both epidermis and dermis. Conclusions: Elevated CD4:CD8 ratio favors MF. But there is an overlap in the lower range with pityriasis lichenoides chronica. These cases require good clinicopathologic correlation and follow-up. Patterns of CD1a expression are more reliable. Immunostains buttress morphology and are a valuable addition. PMID:23248358

  4. Study on dermatoses and their prevalence in groups of confirmed alcoholic individuals in comparison to a non-alcoholic group of individuals*

    PubMed Central

    Bruno, Maria Cecilia Teixeira de Carvalho; Vilela, Maria Aparecida Constantino; de Oliveira, Carlos Alberto B. Mendes

    2013-01-01

    BACKGROUND The direct relationship between alcoholism and dermatoses has been evaluated in recent researches. However, there are few objective surveys that demonstrate and prove a direct relationship between alcohol and a specific dermatosis. OBJECTIVES to verify the prevalence of dermatoses in alcoholics, analize the dermatological changes found in these patients and their evolution during alcoholic abstinence. Also, to compare the results obtained with a non-alcoholic control group and with the data found in medical literature. METHODS: the dermatologic conditions of 278 alcoholic patients (250 men, 28 women) were studied over a period of 4 years, and compared to those of a control group of 271 non-alcoholic individuals (249 men, 22 women), members of the Military Police Force. The individuals in both groups were between 20 and 60 years old. RESULTS Pellagra, nummular eczema, purpura pigmentosa chronica (also known as pigmented purpuric dermatosis) and psoriasis were more frequent in the group of alcoholics and, apparently, occurred in parallel with alcoholism that seems to play a role in the evolution of these dermatoses. The dermatopathies were more frequent before the age of forty, regardless of factors such as profession, race or gender. CONCLUSION the association of dermatoses and alcoholism was extremely significant according to the statistical data. Alcoholism can be considered a risk factor for pellagra, psoriasis, nummular eczema and purpura pigmentosa chronica dermatoses, which can, as well, be considered alcoholism indicators. PMID:23793198

  5. The differential diagnosis of atopic dermatitis in childhood.

    PubMed

    Krol, Alfons; Krafchik, Bernice

    2006-01-01

    Atopic is the most common of the dermatitides seen in infancy and childhood, but there are numerous other diseases that can mimic the skin findings. These include seborrheic dermatitis, immunodeficiency, and psoriasis in infancy; scabies, tinea corporis infection, perioral, nummular, contact, and molluscum dermatitis in childhood. It is sometimes extremely difficult to differentiate between ichthyosis and AD, and it is also important to differentiate AD from erythrodermic conditions including acrodermatitis enteropathica, biotin deficiency, and Netherton syndrome. A rare condition in children that may mimic AD is mycosis fungoides. PMID:16669989

  6. Nutrition and hair: deficiencies and supplements.

    PubMed

    Finner, Andreas M

    2013-01-01

    Hair follicle cells have a high turnover. A caloric deprivation or deficiency of several components, such as proteins, minerals, essential fatty acids, and vitamins, caused by inborn errors or reduced uptake, can lead to structural abnormalities, pigmentation changes, or hair loss, although exact data are often lacking. The diagnosis is established through a careful history, clinical examination of hair loss activity, and hair quality and confirmed through targeted laboratory tests. Examples of genetic hair disorders caused by reduced nutritional components are zinc deficiency in acrodermatitis enteropathica and copper deficiency in Menkes kinky hair syndrome. PMID:23159185

  7. [Pustular psoriasis].

    PubMed

    Weisenseel, P; Wilsmann-Theis, D; Kahl, C; Reich, K; Mössner, R

    2016-06-01

    A number of pustular skin diseases share clinical, pathogenetic, and epidemiological aspects with plaque-type psoriasis, and their classification as a separate clinical entity or as a subtype of psoriasis remains controversial, which is also reflected in the multitude of their names. They include generalized pustular psoriasis with its subtypes, acrodermatitis continua suppurativa (Hallopeau), acute pustulosis palmopantaris, palmoplantar pustular psoriasis, and pustular variants of a mostly TNF-blocker triggered paradoxical psoriasiform dermatitis. In this article, the epidemiology, clinical picture, pathogenesis, genetics, and therapy of these pustular skin diseases are described. PMID:27240667

  8. Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients.

    PubMed

    Wang, Ting-Shun; Chiu, Hsien-Yi; Hong, Jin-Bong; Chan, Chih-Chieh; Lin, Sung-Jan; Tsai, Tsen-Fang

    2016-01-01

    Different studies have reported various values for the percentage of patients with IL36RN mutations, and it has also been reported that the sites of these mutations differ among different ethnicities. The current study was a cross-sectional study conducted to investigate the risk factors predicting IL36RN mutation in Chinese patients with different clinical features of pustular psoriasis. 57 Han Chinese patients, including 32 with generalized pustular psoriasis, 14 with palmoplantar pustulosis, 9 with plaque-type psoriasis with pustules, and 2 with erythrodermic psoriasis, were enrolled between March 2013 and July 2014. Blood samples were collected, genomic DNA was extracted from leukocytes, and polymerase chain reaction (PCR)-based Sanger sequencing was used to analyze the coding exons and flanking introns of the IL36RN gene. The patients with generalized pustular psoriasis exhibited the highest IL36RN mutation rate (75 %) among the aforementioned patient types, with the subgroup consisting of those patients who had features of acrodermatitis continua of Hallopeau exhibiting the highest c.115+6T>C mutation rate (93.8 %). In addition, early onset, ever generalized pustular psoriasis (more than two attacks), ever acrodermatitis continua of Hallopeau, inverse psoriasis, and a family history of pustular psoriasis were associated with IL36RN mutation. The c.115+6T>C mutation was the most common and the most important variant in all subtypes of pustular psoriasis with IL36RN mutations among our sample of Chinese patients. PMID:26589685

  9. [Pathogenesis of atherosclerosis: an update on the three main theories].

    PubMed

    Capron, L

    1989-12-30

    The causes and mechanisms of atherosclerosis remain incompletely understood. Almost all the present investigations are still connected with one of the main three historical theories of atherosclerosis: 1) the incrustation theory, as developed by von Rokitansky, has now led to the many studies on the roles of thrombosis and platelets; 2) the irritation theory, as opposed to the preceding one by Virchow and his school, is reviving through the rediscovery that leukocytes are present in the plaques, and that atherosclerosis (Virchow's endarteritis chronica deformans sive nodosa) has the features of a chronic inflammatory reaction; 3) the lipid infiltration theory, as initiated by the experiments of Anitschkov and Chalatov in rabbits fed a cholesterol enriched diet, motivates the huge mass of studies devoted to plasma lipids and their cellular metabolism. This article provides a brief update on each of these three complementary approaches of atherosclerosis. PMID:2698116

  10. [Laparoscopy in the gynecologic clinic].

    PubMed

    Palatyński, A

    1992-11-01

    Three thousand and twelve (3012) diagnostic laparoscopies in children, girls and women were carried out during the period 1970--1992. The age of the patients was between 6--49 years. The present studies show that laparoscopy fills up the space between the clinical investigation and laparotomy probatoria. It helps to solve in a clear way, a lot of diagnostic problems in gynecology in adult women, in gynecology of developmental age and gynecological endocrinology. There were the following indications to laparoscopy: 1. Adnexitis chronica 2. Infertility-primary and secondary. 3. Unclear tumor and pelvic infections in adolescence. 4. Primary and secondary failure of ovaries. 5. Suspicion of polycystic ovaries. 6. Second look laparoscopy. 7. Suspicion of endometriosis. 8. Suspicion of ectopic pregnancy. 9. Developmental faults of sexual organs. 10. Pubertas praecox. PMID:1305570

  11. Primary and secondary disturbances in trace element metabolism connected with genetic metabolic disorders.

    PubMed

    Lombeck, I; Bremer, H J

    1977-01-01

    Several primarily inherited disturbances of minerals and trace elements have been discovered within the last 20 years. Secondary disturbances of selenium and zinc induced by dietetic treatment of inborn errors of metabolism and by parenteral nutrition also came to our knowledge recently. Two main types of chronic or primary hypomagnesaemia are known which are caused either by impaired intestinal absorption or by false magnesium handling by the kidneys. In acrodermatitis enteropathica, an autosomal-recessive inherited disease leading to characteristic skin lesions, alopecia and dystrophy, low zinc concentrations of serum, urine and hair are measured. The intestinal absorption of zinc is reduced. In copper metabolism two inherited diseases are known with low serum and usually caerulosplasmin concentrations. In Menkes' steely hair syndrome (trichlpoliodystrophy) an intestinal net malabsorption of copper exists, whereas in Wilson's disease the copper contents of several organs are increased. PMID:917352

  12. Zinc therapy in dermatology: a review.

    PubMed

    Gupta, Mrinal; Mahajan, Vikram K; Mehta, Karaninder S; Chauhan, Pushpinder S

    2014-01-01

    Zinc, both in elemental or in its salt forms, has been used as a therapeutic modality for centuries. Topical preparations like zinc oxide, calamine, or zinc pyrithione have been in use as photoprotecting, soothing agents or as active ingredient of antidandruff shampoos. Its use has expanded manifold over the years for a number of dermatological conditions including infections (leishmaniasis, warts), inflammatory dermatoses (acne vulgaris, rosacea), pigmentary disorders (melasma), and neoplasias (basal cell carcinoma). Although the role of oral zinc is well-established in human zinc deficiency syndromes including acrodermatitis enteropathica, it is only in recent years that importance of zinc as a micronutrient essential for infant growth and development has been recognized. The paper reviews various dermatological uses of zinc. PMID:25120566

  13. Zinc Therapy in Dermatology: A Review

    PubMed Central

    Mahajan, Vikram K.; Mehta, Karaninder S.; Chauhan, Pushpinder S.

    2014-01-01

    Zinc, both in elemental or in its salt forms, has been used as a therapeutic modality for centuries. Topical preparations like zinc oxide, calamine, or zinc pyrithione have been in use as photoprotecting, soothing agents or as active ingredient of antidandruff shampoos. Its use has expanded manifold over the years for a number of dermatological conditions including infections (leishmaniasis, warts), inflammatory dermatoses (acne vulgaris, rosacea), pigmentary disorders (melasma), and neoplasias (basal cell carcinoma). Although the role of oral zinc is well-established in human zinc deficiency syndromes including acrodermatitis enteropathica, it is only in recent years that importance of zinc as a micronutrient essential for infant growth and development has been recognized. The paper reviews various dermatological uses of zinc. PMID:25120566

  14. Congenital diseases of the gastrointestinal tract.

    PubMed

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  15. Extreme Population Differences in the Human Zinc Transporter ZIP4 (SLC39A4) Are Explained by Positive Selection in Sub-Saharan Africa

    PubMed Central

    Pybus, Marc; Andrews, Glen K.; Lalueza-Fox, Carles; Comas, David; Sekler, Israel; de la Rasilla, Marco; Rosas, Antonio; Stoneking, Mark; Valverde, Miguel A.; Vicente, Rubén; Bosch, Elena

    2014-01-01

    Extreme differences in allele frequency between West Africans and Eurasians were observed for a leucine-to-valine substitution (Leu372Val) in the human intestinal zinc uptake transporter, ZIP4, yet no further evidence was found for a selective sweep around the ZIP4 gene (SLC39A4). By interrogating allele frequencies in more than 100 diverse human populations and resequencing Neanderthal DNA, we confirmed the ancestral state of this locus and found a strong geographical gradient for the derived allele (Val372), with near fixation in West Africa. In extensive coalescent simulations, we show that the extreme differences in allele frequency, yet absence of a classical sweep signature, can be explained by the effect of a local recombination hotspot, together with directional selection favoring the Val372 allele in Sub-Saharan Africans. The possible functional effect of the Leu372Val substitution, together with two pathological mutations at the same codon (Leu372Pro and Leu372Arg) that cause acrodermatitis enteropathica (a disease phenotype characterized by extreme zinc deficiency), was investigated by transient overexpression of human ZIP4 protein in HeLa cells. Both acrodermatitis mutations cause absence of the ZIP4 transporter cell surface expression and nearly absent zinc uptake, while the Val372 variant displayed significantly reduced surface protein expression, reduced basal levels of intracellular zinc, and reduced zinc uptake in comparison with the Leu372 variant. We speculate that reduced zinc uptake by the ZIP4-derived Val372 isoform may act by starving certain pathogens of zinc, and hence may have been advantageous in Sub-Saharan Africa. Moreover, these functional results may indicate differences in zinc homeostasis among modern human populations with possible relevance for disease risk. PMID:24586184

  16. Pityriasis Lichenoides in Childhood: Review of Clinical Presentation and Treatment Options.

    PubMed

    Geller, Lauren; Antonov, Nina K; Lauren, Christine T; Morel, Kimberly D; Garzon, Maria C

    2015-01-01

    Pityriasis lichenoides (PL) is a skin condition of unclear etiology that occurs not uncommonly in childhood. It is often classified into the acute form, pityriasis lichenoides et varioliformis acuta (PLEVA), and the chronic form, pityriasis lichenoides chronica (PLC). We performed a comprehensive review of the English-language literature using the PubMed database of all cases of childhood PL reported from 1962 to 2014 and summarized the epidemiology, clinical features, treatment options, and prognosis of this condition in children. The proposed etiologies are discussed, including its association with infectious agents, medications, and immunizations and evidence for PL as a lymphoproliferative disorder. We found an average age of PL onset of 6.5 years, with a slight (61%) male predominance. We also found that PLEVA and PLC tend to occur with equal frequency and that, in many cases, there is clinical and histopathologic overlap between the two phenotypes. When systemic therapy is indicated, we propose that oral erythromycin and narrowband ultraviolet B phototherapy should be first-line treatment options for children with PL since they have been shown to be effective and well tolerated. In most cases, PL follows a benign course with no greater risk of cutaneous T-cell lymphoma, although given the rare case reports of transformation, long-term follow-up of these patients is recommended. PMID:25816855

  17. IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

    PubMed

    Tauber, Marie; Bal, Elodie; Pei, Xue-Yuan; Madrange, Marine; Khelil, Amel; Sahel, Houria; Zenati, Akila; Makrelouf, Mohamed; Boubridaa, Khaled; Chiali, Amel; Smahi, Naima; Otsmane, Farida; Bouajar, Bakar; Marrakchi, Slaheddine; Turki, Hamida; Bourrat, Emmanuelle; Viguier, Manuelle; Hamel, Yamina; Bachelez, Hervé; Smahi, Asma

    2016-09-01

    Homozygous or compound heterozygous IL36RN gene mutations underlie the pathogenesis of psoriasis-related pustular eruptions including generalized pustular psoriasis, palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustular eruption. We identified two unreported IL36RN homozygous mutations (c.41C>A/p.Ser14X and c.420_426del/p.Gly141MetfsX29) in patients with familial generalized pustular psoriasis. We analyzed the impact of a spectrum of IL36RN mutations on IL-36 receptor antagonist protein by using site-directed mutagenesis and expression in HEK293T cells. This enabled us to differentiate null mutations with complete absence of IL-36 receptor antagonist (the two previously unreported mutations, c.80T>C/p.Leu27Pro, c.28C>T/p.Arg10X, c.280G>T/p.Glu94X, c.368C>G/p.Thr123Arg, c.368C>T/p.Thr123Met, and c.227C>T/p.Pro76Leu) from mutations with decreased (c.95A>G/p.His32Arg, c.142C>T/p.Arg48Trp, and c.308C>T/p.Ser113Leu) or unchanged (c.304C>T/p.Arg102Trp and c.104A>G/p.Lys35Arg) protein expression. Functional assays measuring the impact of mutations on the capacity to repress IL-36-dependent activation of the NF-κB pathway showed complete functional impairment for null mutations, whereas partial or no impairment was observed for other mutations considered as hypomorphic. Finally, null mutations were associated with severe clinical phenotypes (generalized pustular psoriasis, acute generalized exanthematous pustular eruption), whereas hypomorphic mutations were identified in both localized (palmoplantar pustular psoriasis, acrodermatitis continua of Hallopeau) and generalized variants. These results provide a preliminary basis for genotype-phenotype correlation in patients with deficiency of the IL-36Ra (DITRA), and suggest the involvement of other factors in the modulation of clinical expression. PMID:27220475

  18. The Functions of Metallothionein and ZIP and ZnT Transporters: An Overview and Perspective

    PubMed Central

    Kimura, Tomoki; Kambe, Taiho

    2016-01-01

    Around 3000 proteins are thought to bind zinc in vivo, which corresponds to ~10% of the human proteome. Zinc plays a pivotal role as a structural, catalytic, and signaling component that functions in numerous physiological processes. It is more widely used as a structural element in proteins than any other transition metal ion, is a catalytic component of many enzymes, and acts as a cellular signaling mediator. Thus, it is expected that zinc metabolism and homeostasis have sophisticated regulation, and elucidating the underlying molecular basis of this is essential to understanding zinc functions in cellular physiology and pathogenesis. In recent decades, an increasing amount of evidence has uncovered critical roles of a number of proteins in zinc metabolism and homeostasis through influxing, chelating, sequestrating, coordinating, releasing, and effluxing zinc. Metallothioneins (MT) and Zrt- and Irt-like proteins (ZIP) and Zn transporters (ZnT) are the proteins primarily involved in these processes, and their malfunction has been implicated in a number of inherited diseases such as acrodermatitis enteropathica. The present review updates our current understanding of the biological functions of MTs and ZIP and ZnT transporters from several new perspectives. PMID:26959009

  19. Functional consequences of zinc deficiency.

    PubMed

    McClain, C J; Kasarskis, E J; Allen, J J

    1985-01-01

    Zinc is an essential trace element necessary for over 200 zinc metalloenzymes and required for normal nucleic acid, protein, and membrane metabolism. During the past two decades there has been a rapid expansion of knowledge concerning zinc metabolism in both normal and disease situations, including mechanisms for zinc absorption, excretion and internal redistribution of zinc after stress or trauma. Acrodermatitis enteropathica has been recognized to be a disease of impaired zinc absorption in man. A host of disease processes now are recognized to be complicated by zinc deficiency including alcoholic liver disease, sickle cell anemia, protein calorie malnutrition, and a variety of intestinal diseases including Crohn's disease, sprue, short bowel syndrome and after jejunal ileal bypass. Zinc has proved to be an extremely interesting mineral to nutritionists and physicians because of its importance in normal physiology and biochemistry and because of the diverse presenting features of zinc deficiency. This paper reviews ten functional consequences of zinc deficiency and emphasizes certain consequences in which there have been new discoveries concerning their mechanism (e.g., anorexia) or their clinical importance (e.g., immune dysfunction). PMID:3911268

  20. Diet in dermatology: revisited.

    PubMed

    Kaimal, Sowmya; Thappa, Devinder Mohan

    2010-01-01

    Diet has an important role to play in many skin disorders, and dermatologists are frequently faced with the difficulty of separating myth from fact when it comes to dietary advice for their patients. Patients in India are often anxious about what foods to consume, and what to avoid, in the hope that, no matter how impractical or difficult this may be, following this dictum will cure their disease. There are certain disorders where one or more components in food are central to the pathogenesis, e.g. dermatitis herpetiformis, wherein dietary restrictions constitute the cornerstone of treatment. A brief list, although not comprehensive, of other disorders where diet may have a role to play includes atopic dermatitis, acne vulgaris, psoriasis vulgaris, pemphigus, urticaria, pruritus, allergic contact dermatitis, fish odor syndrome, toxic oil syndrome, fixed drug eruption, genetic and metabolic disorders (phenylketonuria, tyrosinemia, homocystinuria, galactosemia, Refsum's disease, G6PD deficiency, xanthomas, gout and porphyria), nutritional deficiency disorders (kwashiorkar, marasmus, phrynoderma, pellagra, scurvy, acrodermatitis enteropathica, carotenemia and lycopenemia) and miscellaneous disorders such as vitiligo, aphthous ulcers, cutaneous vasculitis and telogen effluvium. From a practical point of view, it will be useful for the dermatologist to keep some dietary information handy to deal with the occasional patient who does not seem to respond in spite of the best, scientific and evidence-based therapy. PMID:20228538

  1. Soybean extracts increase cell surface ZIP4 abundance and cellular zinc levels: a potential novel strategy to enhance zinc absorption by ZIP4 targeting.

    PubMed

    Hashimoto, Ayako; Ohkura, Katsuma; Takahashi, Masakazu; Kizu, Kumiko; Narita, Hiroshi; Enomoto, Shuichi; Miyamae, Yusaku; Masuda, Seiji; Nagao, Masaya; Irie, Kazuhiro; Ohigashi, Hajime; Andrews, Glen K; Kambe, Taiho

    2015-12-01

    Dietary zinc deficiency puts human health at risk, so we explored strategies for enhancing zinc absorption. In the small intestine, the zinc transporter ZIP4 functions as an essential component of zinc absorption. Overexpression of ZIP4 protein increases zinc uptake and thereby cellular zinc levels, suggesting that food components with the ability to increase ZIP4 could potentially enhance zinc absorption via the intestine. In the present study, we used mouse Hepa cells, which regulate mouse Zip4 (mZip4) in a manner indistinguishable from that in intestinal enterocytes, to screen for suitable food components that can increase the abundance of ZIP4. Using this ZIP4-targeting strategy, two such soybean extracts were identified that were specifically able to decrease mZip4 endocytosis in response to zinc. These soybean extracts also effectively increased the abundance of apically localized mZip4 in transfected polarized Caco2 and Madin-Darby canine kidney cells and, moreover, two apically localized mZip4 acrodermatitis enteropathica mutants. Soybean components were purified from one extract and soyasaponin Bb was identified as an active component that increased both mZip4 protein abundance and zinc levels in Hepa cells. Finally, we confirmed that soyasaponin Bb is capable of enhancing cell surface endogenous human ZIP4 in human cells. Our results suggest that ZIP4 targeting may represent a new strategy to improve zinc absorption in humans. PMID:26385990

  2. Zinc and its deficiency diseases.

    PubMed

    Evans, G W

    1986-01-01

    The pervasive role of zinc in the metabolic function of the body results from its function as a cofactor of a multitude of enzymes. Zinc is found in every tissue in the body, and because zinc metalloenzymes are found in every known class of enzymes, the metal has a function in every conceivable type of biochemical pathway. Symptoms resulting from zinc deficiency are as diverse as the enzymes with which the metal is associated. If chronic, severe, and untreated, zinc deficiency can be fatal. Less drastic symptoms include infections, hypogonadism, weight loss, emotional disturbance, dermatitis, alopecia, impaired taste acuity, night blindness, poor appetite, delayed wound healing, and elevated blood ammonia levels. Many symptoms of zinc deficiency result from poor diet consumption, but often the most severe symptoms result from other factors including excessive alcohol use, liver diseases, malabsorption syndromes, renal disease, enteral or parenteral alimentation, administration of sulfhydryl-containing drugs, and sickle cell disease. The most severe symptoms of zinc deficiency occur in young children affected with the autosomal-recessive trait, acrodermatitis enteropathica. This disease results in decreased synthesis of picolinic acid which causes an impaired ability to utilize zinc from common food. Because simple laboratory analyses are often not reliable in determining zinc nutriture of a patient, those symptoms caused by suspected zinc deficiency are best verified by the oral administration of zinc dipicolinate. This zinc compound is efficacious and safe and would provide an accurate means of identifying symptoms that do result from zinc deficiency. PMID:3514057

  3. Overview of Inherited Zinc Deficiency in Infants and Children.

    PubMed

    Kambe, Taiho; Fukue, Kazuhisa; Ishida, Riko; Miyazaki, Shiho

    2015-01-01

    Zinc nutrition is of special practical importance in infants and children. Poor zinc absorption causes zinc deficiency, which leads to a broad range of consequences such as alopecia, diarrhea, skin lesions, taste disorders, loss of appetite, impaired immune function and neuropsychiatric changes and growth retardation, thus potentially threatening life in infants and children. In addition to dietary zinc deficiency, inherited zinc deficiency, which rarely occurs, is found during the infant stage and early childhood. Recent molecular genetic studies have identified responsible genes for two inherited zinc deficiency disorders, acrodermatitis enteropathica (AE) and transient neonatal zinc deficiency (TNZD), clarifying the pathological mechanisms. Both of these zinc deficiencies are caused by mutations of zinc transporters, although the mechanisms are completely different. AE is an autosomal recessive disorder caused by mutations of the ZIP4 gene, consequently resulting in defective absorption of zinc in the small intestine. In contrast, TNZD is a disorder caused by mutations of the ZnT2 gene, which results in low zinc breast milk in the mother, consequently causing zinc deficiency in the breast-fed infant. In both cases, zinc deficiency symptoms are ameliorated by a daily oral zinc supplementation for the patients. Zinc is definitely one of the key factors for the healthy growth of infants and children, and thus zinc nutrition should receive much attention. PMID:26598882

  4. Recalcitrant eosinophilic pustular folliculitis of Ofuji with palmoplantar pustulosis: dramatic response to narrowband UVB phototherapy.

    PubMed

    Lim, Hua Liang; Chong, Wei-Sheng

    2012-08-01

    Eosinophilic pustular folliculitis of Ofuji is a recalcitrant disease typified by non-infective eosinophilic spongiosis involving the infundibular region of the hair follicle. We present a case of a 49-year-old Chinese man with known palmoplantar pustulosis and acrodermatitis continua of Hallopeau which was promptly resolved with methotrexate therapy. He returned with an erythematous papulopustular eruption with coalescence to annular plaques, occurring over the face, chest and back with active palmoplantar pustulation. Histology from skin biopsy of the palmar lesion was in keeping with palmoplantar psoriasis, while biopsy of the facial and truncal lesions revealed florid perifollicular eosinophilic congregation diagnostic of eosinophilic pustular folliculitis of Ofuji. Indomethacin was initiated with partial improvement of lesions with cyclical flares. A trial of narrowband ultraviolet-B phototherapy at a frequency of thrice weekly achieved sustained clearance of both eosinophilic pustular folliculitis and palmoplantar lesions. Indomethacin was tailed down and eventually discontinued with maintenance of narrowband ultraviolet-B therapy; this achieved successful control of the disease. PMID:23017177

  5. [Genodermatosis in man and animal. Comparative overview].

    PubMed

    Küster, W; Happle, R

    1983-11-01

    Fourteen monogenic cutaneous disorders of man are compared to similar gene defects in animals. The traits are classified into two groups. In the first group, an identity (homology) of the underlying gene defects is likely. This group includes oculo-cutaneous albinism, Chédiak-Higashi syndrome, aplasia cutis congenita, Ehlers-Danlos syndrome (type I), hypohidrotic ectodermal dysplasia of the Christ-Siemens-Touraine type, X-linked dominant chondrodysplasia punctata, ichthyosis congenita gravis, Menkes syndrome, erythropoetic porphyria, porphyria cutanea tarda, and acrodermatitis enteropathica. In the second group, the traits are similar but the question of their homology cannot be settled. It includes alopecia congenita, hidrotic ectodermal dysplasia of the Clouston type, and hereditary lymphedema. The existence of identical mutations in man and animals provides evidence for the close relationship between the various mammalian species. Homologous traits affecting the skin are of practical importance since the use of these animal models may help to answer those questions which cannot be answered by performing research in human patients. PMID:6358130

  6. Pediatric mycosis fungoides in Singapore: a series of 46 children.

    PubMed

    Heng, Yee Kiat; Koh, Mark Jean Aan; Giam, Yoke Chin; Tang, Mark Boon Yang; Chong, Wei Sheng; Tan, Suat Hoon

    2014-01-01

    Few studies have evaluated Asian children with mycosis fungoides (MF). We report a series of patients from a tertiary dermatologic institution in Singapore. A retrospective review was performed of patients younger than 16 years old diagnosed with MF between 2000 and 2008 at the National Skin Centre, Singapore. Forty-six patients were identified. At initial presentation, a provisional diagnosis of MF was made in 19 patients (41.3%), pityriasis lichenoides chronica (PLC) in 11 (23.9%) and postinflammatory hypopigmentation due to eczema or other causes in 11 (23.9%). After skin biopsy, the hypopigmented variant of MF was diagnosed in 42 patients (91.3%). There was one case each of PLC-like MF, pigmented purpuric dermatosis-like MF, classic MF, and solitary MF. Pityriasis lichenoides coexisted in three cases (6.5%). All except one patient presented with the early patch-plaque stage of disease (stage IA/B). The disease did not progress in any of our patients after a mean follow-up of 71.0 ± 52.5 months. Twenty-seven patients (58.7%) had complete disease clearance after a mean duration of 27.1 ± 28.1 months; 15 (49.7%) of 32 patients who received narrowband ultraviolet B treatment had complete clearance within an average of 8.9 ± 5.3 months, but 7 patients relapsed within 14.9 ± 14.8 months. One patient with solitary MF failed multiple treatment modalities before eventually achieving disease clearance with photodynamic therapy. Hypopigmented MF is the most common MF variant in Asian children. The diagnostic difficulty is in differentiating this from PLC, which may coexist with MF. Long-term prognosis is generally favorable. PMID:24890628

  7. The practical usefulness of dermoscopy in general dermatology.

    PubMed

    Errichetti, E; Stinco, G

    2015-10-01

    Beside to traditional use, dermoscopy is more and more used in the assessment of other "general" dermatologic conditions, namely scalp and hair disorders (trichoscopy), nails abnormalities (onychoscopy), skin infections and infestations (entomodermoscopy), and cutaneous inflammatory diseases (inflammoscopy). Among the list of new applications of dermoscopy, the study of inflammatory dermatoses is probably the most promising topic in terms of development and usefulness, considering the large number of such disorders and the frequent problems in their differential diagnosis which the dermatologist encounters in own daily clinical practice. In this paper, we report selected relatively common clinical differential diagnosis issues concerning inflammatory dermatoses (and some clinically related noninflammatory conditions), analysing them by a dermoscopic point of view in order to assist their noninvasive resolution according to the available literature data and our personal experience, including papulosquamous dermatoses (guttate psoriasis, pityriasis lichenoides chronica, pityriasis rosea, lichen planus, lymphomatoid papulosis, classic pityriasis rubra pilaris, papulosquamous sarcoidosis, disseminated forms of porokeratosis and papulosquamous chronic GVHD), dermatoses presenting with erythematous-desquamative patches/plaques (plaque psoriasis, eczematous dermatitis, pityriasis rosea, mycosis fungoides, subacute cutaneous lupus erythematosus), palmar psoriasis vs. chronic hand eczema, scalp psoriasis vs. seborrheic dermatitis, erythematous-desquamative disorders typically involving the elbows (psoriasis vulgaris, circumscribed juvenile pityriasis rubra pilaris, dermatomyositis/Gottron's sign), itchy papulonodular dermatoses (hypertrophic lichen planus, prurigo nodularis, nodular scabies and acquired perforating dermatosis), common facial inflammatory skin diseases (rosacea, seborrheic dermatitis and demodicidosis), lichen sclerosus vs. morphea, urticaria vs. urticarial

  8. Impact of the discovery of human zinc deficiency on health.

    PubMed

    Prasad, Ananda S

    2009-06-01

    The essentiality of zinc was recognized 46 years ago. Zinc deficiency resulting in growth retardation, hypogonadism, immune dysfunction and cognitive impairment affects nearly 2 billion subjects in the developing world. High phytate content of the cereal proteins consumed in the developing world, results in decreased availability of zinc for absorption. Zinc therapy has been very successful and life saving measure in patients with acrodermatitis enteropathica and Wilson's disease. Beneficial therapeutic responses of zinc supplementation have been ovserved in acute diarrhea in children, chronic hepatitis C, shigellosis, leprosy, leishmaniasis, and common cold. Zinc supplementation was effective in decreasing incidences of infection in elderly and patients with sickle cell disease. Zinc supplementation was effective in preventing blindness in 25% of the elderly with dry type of age related macular degeneration. Zinc supplementation in the elderly decreased oxidative stress and decreased generation of inflammatory cytokines. Zinc is an intracellular signaling molecule in monocytes, dendritic cells and macrophages and it plays an important role in cell-mediated immune functions and oxidative stress. Zinc is also an anti-inflammatory agent. These unique properties of zinc may have significant therapeutic benefits in several diseases in humans. In many diseases concurrent zinc deficiency may complicate the clinical features, affect adversely immunological status, increase oxidative stress and increase generation of inflammatory cytokines. Oxidative stress and chronic inflammation may play important causative roles in many chronic diseases, including atherosclerosis, several malignancies, neurological disorders, and auto-immune diseases. It is therefore, important that status of zinc is assessed and zinc deficiency corrected in these chronic diseases. A controlled clinical trial of zinc supplementation in these disorders in order to document the preventive and therapeutic

  9. Clioquinol-zinc chelate: a candidate causative agent of subacute myelo-optic neuropathy.

    PubMed Central

    Arbiser, J. L.; Kraeft, S. K.; van Leeuwen, R.; Hurwitz, S. J.; Selig, M.; Dickersin, G. R.; Flint, A.; Byers, H. R.; Chen, L. B.

    1998-01-01

    BACKGROUND: 5-chloro-7-iodo-8-hydroxyquinoline (clioquinol) was used clinically three decades ago as an oral antiparasitic agent and to increase intestinal absorption of zinc in patients with acrodermatitis enteropathica, a genetic disorder of zinc absorption. Use of clioquinol was epidemiologically linked to subacute myelo-optic neuropathy (SMON), characterized by peripheral neuropathy and blindness, which affected 10,000 patients in Japan. Discontinuation of oral clioquinol use led to elimination of SMON, however, the mechanism of how clioquinol induces neurotoxicity is unclear. MATERIALS AND METHODS: We tested the effect of clioquinol-metal chelates on neural crest-derived melanoma cells. The effect of clioquinol chelates on cells was further studied by electron microscopy and by a mitochondrial potential-sensitive fluorescent dye. RESULTS: Of the ions tested, only clioquinol-zinc chelate demonstrated cytotoxicity. The cytotoxicity of clioquinol-zinc chelate was extremely rapid, suggesting that its primary effect was on the mitochondria. Electron microscopic analysis demonstrated that clioquinol-zinc chelate caused mitochondrial damage. This finding was further confirmed by the observation that clioquinol-zinc chelate caused a decrease in mitochondrial membrane potential. CONCLUSIONS: We demonstrate that clioquinol, in the presence of zinc, is converted to a potent mitochondrial toxin. The phenomenon of clioquinol mediated toxicity appears to be specific to zinc and is not seen with other metals tested. Since clioquinol has been shown to cause increased systemic absorption of zinc in humans, it is likely that clioquinol-zinc chelate was present in appreciable levels in patients with SMON and may be the ultimate causative toxin of SMON. Images Fig. 2 Fig. 3 PMID:9848083

  10. Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis.

    PubMed

    Kanazawa, Nobuo; Nakamura, Tomoyuki; Mikita, Naoya; Furukawa, Fukumi

    2013-09-01

    Generalized pustular psoriasis is a distinct type of psoriasis characterized by recurrent febrile attacks with disseminated subcorneal pustules on generalized skin rashes. Recently, homozygous and compound heterozygous mutations of the IL36RN gene, which encodes the anti-inflammatory cytokine interleukin (IL)-36 receptor antagonist, were identified in familial and sporadic cases of various ethnicities with generalized pustular psoriasis. Here we report a 39-year-old Japanese male patient who had suffered from repeated attacks of generalized pustular psoriasis since infancy with intervals of several years. At presentation, erythematous lesions with a few pustules were found only on some parts of the body and controlled with topical corticosteroids. An analysis of the IL36RN gene revealed compound heterozygous mutations of c.28C>T and c.368C>T. While the former mutation causing the premature termination p.Arg10X is recurrent in Japanese cases, the latter missense mutation causing p.Thr123Met substitution is novel, but another mutation in the same position has been reported in one Japanese case. Our report further supports the presence of the Japanese-specific hot spots in the IL36RN gene, 28C and 368C, and suggests the functional significance of Thr123. This special type of generalized pustular psoriasis caused by IL36RN mutations has been designated as deficiency for IL-36 receptor antagonist, a new hereditary autoinflammatory disease, and its phenotypes have emerged to include other related pustular disorders, palmoplantar pustulosis, acrodermatitis continua of Hallopeau, and acute generalized exanthematous pustulosis. The genetic analysis of the cases with these diseases would be important for establishment and application of the specific treatments targeting the IL-36 signaling. PMID:23834760

  11. A role for dZIP89B in Drosophila dietary zinc uptake reveals additional complexity in the zinc absorption process.

    PubMed

    Richards, Christopher D; Warr, Coral G; Burke, Richard

    2015-12-01

    Dietary zinc is the principal source of zinc in eukaryotes, with its uptake and distribution controlled by a complex network of numerous membrane-spanning transport proteins. Dietary absorption is achieved by members of the SLC39A (ZIP) gene family, which encode proteins that are generally responsible for the movement of zinc into the cytosol. ZIP4 is thought to be the primary mammalian zinc uptake gene in the small intestine, with mutations in this gene causing the zinc deficiency disease Acrodermatitis enteropathica. In Drosophila, dual knockdown of the major dietary zinc uptake genes dZIP42C.1 (dZIP1) and dZIP42C.2 (dZIP2) results in a severe sensitivity to zinc-deficient media. However, the symptoms associated with ZIP4 loss can be reversed by zinc supplementation and dZIP42C.1 and 2 knockdown has minimal effect under normal dietary conditions, suggesting that additional pathways for zinc absorption exist in both mammals and flies. This study provides evidence that dZIP89B is an ideal candidate for this role in Drosophila, encoding a low-affinity zinc uptake transporter active in the posterior midgut. Flies lacking dZIP89B, while viable and apparently healthy, show indications of low midgut zinc levels, including reduced metallothionein B expression and compensatory up-regulation of dZIP42C.1 and 2. Furthermore dZIP89B mutants display a dramatic resistance to toxic dietary zinc levels which is abrogated by midgut-specific restoration of dZIP89B activity. We postulate that dZIP89B works in concert with the closely related dZIP42C.1 and 2 to ensure optimal zinc absorption under a range of dietary conditions. PMID:26545796

  12. Clinical, endocrinological and biochemical effects of zinc deficiency.

    PubMed

    Prasad, A S

    1985-08-01

    The essentiality of zinc for humans was recognized in the early 1960s. The causes of zinc deficiency include malnutrition, alcoholism, malabsorption, extensive burns, chronic debilitating disorders, chronic renal disease, certain diuretics, the use of chelating agents such as penicillamine for Wilson's disease, and genetic disorders such as acrodermatitis enteropathica and sickle cell disease. The requirement of zinc is increased in pregnancy and during the growing age period. The clinical manifestations in severe cases of zinc deficiency included bullous-pustular dermatitis, alopecia, diarrhoea, emotional disorder, weight loss, intercurrent infections, hypogonadism in males and it is fatal if untreated. A moderate deficiency of zinc is characterized by growth retardation and delayed puberty in adolescents, hypogonadism in males, rough skin, poor appetite, mental lethargy, delayed wound healing, taste abnormalities and abnormal dark adaptation. In mild cases of zinc deficiency in human subjects, we have observed oligospermia, slight weight loss and hyperammonaemia. Zinc is a growth factor. As a result of its deficiency, growth is affected adversely in many animal species and in man. Inasmuch as zinc is needed for protein and DNA synthesis and cell division, it is believed that the growth effect of zinc is related to its effect on protein synthesis. Testicular functions are affected adversely as a result of zinc deficiency in both humans and experimental animals. This effect of zinc is at the end organ level and the hypothalamic--pituitary axis is intact in zinc-deficient subjects. Inasmuch as zinc is intimately involved in a cell division, its deficiency may adversely affect testicular size and thus its function. In mice, the incidence of degenerate oocytes, and hypohaploidy and hyperhaploidy in metaphase II oocytes were increased due to zinc deficiency. Zinc at physiological concentrations reduced prolactin secretion from the pituitary in vitro and it has been

  13. Clinical, endocrinologic, and biochemical effects of zinc deficiency.

    PubMed

    Prasad, A S

    1985-01-01

    The requirement of zinc for humans was recognized in the early 1960s. The causes of zinc deficiency include malnutrition, alcoholism, malabsorption, extensive burns, chronic debilitating disorders, and chronic renal diseases; use of certain drugs such as penicillamine and, in some cases, diuretics; and genetic disorders such as acrodermatitis enteropathica and sickle cell disease. The requirement of zinc is increased in pregnancy and during growth. The clinical manifestations of severe zinc deficiency include bullous-pustular dermatitis, alopecia, diarrhea, emotional disorder, weight loss, intercurrent infections, and hypogonadism in males; zinc deficiency can be fatal if unrecognized and untreated. A moderate deficiency of zinc is characterized by growth retardation and delayed puberty in adolescents, hypogonadism in males, rough skin, poor appetite, mental lethargy, delayed wound healing, taste abnormalities, and abnormal dark adaptation. In mild cases of zinc deficiency in human subjects, we have observed oligospermia, slight weight loss, and hyperammonemia. Zinc is a growth factor. As a result of its deficiency, growth is affected adversely in many animal species and humans, probably because zinc is needed for protein and DNA synthesis and cell division. The effects of zinc and growth hormone on growth appear to be independent of each other in experimental animals. Whether zinc is required for the metabolism of somatomedin needs further investigation. Thyroid and adrenal functions do not appear to change as a result of zinc deficiency. Glucocorticoids may have an effect on zinc metabolism, although the clinical relevance of this effect is not known at present. In contrast, testicular function is affected adversely as a result of zinc deficiency in both humans and experimental animals. The effect appears to be a direct one since the hypothalamic-pituitary axis is intact, and may relate to the reduction in testicular size as a result of the need for zinc in cell

  14. The role of zinc in gastrointestinal and liver disease.

    PubMed

    Prasad, A S

    1983-09-01

    Zinc is essential for many metabolic and enzymatic functions in man. Deficiency of zinc in man has now been recognized to occur not only as a result of nutritional factors, but also in various disease states, including malabsorption syndromes, acrodermatitis enteropathica, Crohn's disease, alcoholism and cirrhosis of the liver. The deficiency state in human subjects exists as a spectrum extending from mild to severe degree. The clinical manifestations of mild zinc deficiency include oligospermia, weight loss and hyperammonaemia. Moderate zinc deficiency is characterized clinically by growth retardation, hypogonadism in males, skin changes, poor appetite, mental lethargy, delayed wound healing, taste abnormalities and abnormal dark adaptation. In severe zinc deficiency states, bullous-pustular dermatitis, alopecia, diarrhoea, emotional disorders, weight loss, intercurrent infections, hypogonadism in males and, if unrecognized, death have been observed. Zinc is needed for the functions of over 100 enzymes. It is essential for DNA, RNA and protein synthesis and, as such, is important for cell division. Zinc is an inducer of mRNA of metallothionein, a protein which may have an important role in the regulation of intestinal zinc absorption. Zinc has a specific effect on testes in animals and man. Recent reports indicate that in human subjects thymopoietin may be zinc dependent and in animal studies somatomedin may be affected adversely due to dietary zinc restriction. Zinc plays an important role in the protection of cell membrane integrity and may be protective against free radical injury. Zinc is known to compete with cadmium, lead, copper, iron and calcium for similar binding sites. In the future, a potential use of zinc may be to alleviate toxic effects of cadmium and lead in human subjects. Recent evidence suggests that thymic-dependent lymphocytes (T cells are zinc dependent. T-helper and suppressor cells, T-effector cells and T-natural killer cells appear to be

  15. Clinical manifestations of zinc deficiency.

    PubMed

    Prasad, A S

    1985-01-01

    The essentiality of zinc for humans was recognized in the early 1960s. The causes of zinc deficiency include malnutrition, alcoholism, malabsorption, extensive burns, chronic debilitating disorders, chronic renal diseases, following uses of certain drugs such as penicillamine for Wilson's disease and diuretics in some cases, and genetic disorders such as acrodermatitis enteropathica and sickle cell disease. In pregnancy and during periods of growth the requirement of zinc is increased. The clinical manifestations in severe cases of zinc deficiency include bullous-pustular dermatitis, alopecia, diarrhea, emotional disorder, weight loss, intercurrent infections, hypogonadism in males; it is fatal if unrecognized and untreated. A moderate deficiency of zinc is characterized by growth retardation and delayed puberty in adolescents, hypogonadism in males, rough skin, poor appetite, mental lethargy, delayed wound healing, taste abnormalities, and abnormal dark adaptation. In mild cases of zinc deficiency in human subjects, we have observed oligospermia, slight weight loss, and hyperammonemia. Zinc is a growth factor. Its deficiency adversely affects growth in many animal species and humans. Inasmuch as zinc is needed for protein and DNA synthesis and for cell division, it is believed that the growth effect of zinc is related to its effect on protein synthesis. Whether or not zinc is required for the metabolism of somatomedin needs to be investigated in the future. Testicular functions are affected adversely as a result of zinc deficiency in both humans and experimental animals. This effect of zinc is at the end organ level; the hypothalamic-pituitary axis is intact in zinc-deficient subjects. Inasmuch as zinc is intimately involved in cell division, its deficiency may adversely affect testicular size and thus affect its functions. Zinc is required for the functions of several enzymes and whether or not it has an enzymatic role in steroidogenesis is not known at present

  16. Dermatologic signs in patients with eating disorders.

    PubMed

    Strumia, Renata

    2005-01-01

    Eating disorders are significant causes of morbidity and mortality in adolescent females and young women. They are associated with severe medical and psychological consequences, including death, osteoporosis, growth delay and developmental delay. Dermatologic symptoms are almost always detectable in patients with severe anorexia nervosa (AN) and bulimia nervosa (BN), and awareness of these may help in the early diagnosis of hidden AN or BN. Cutaneous manifestations are the expression of the medical consequences of starvation, vomiting, abuse of drugs (such as laxatives and diuretics), and of psychiatric morbidity. These manifestations include xerosis, lanugo-like body hair, telogen effluvium, carotenoderma, acne, hyperpigmentation, seborrheic dermatitis, acrocyanosis, perniosis, petechiae, livedo reticularis, interdigital intertrigo, paronychia, generalized pruritus, acquired striae distensae, slower wound healing, prurigo pigmentosa, edema, linear erythema craquele, acral coldness, pellagra, scurvy, and acrodermatitis enteropathica. The most characteristic cutaneous sign of vomiting is Russell's sign (knuckle calluses). Symptoms arising from laxative or diuretic abuse include adverse reactions to drugs. Symptoms arising from psychiatric morbidity (artefacta) include the consequences of self-induced trauma. The role of the dermatologist in the management of eating disorders is to make an early diagnosis of the 'hidden' signs of these disorders in patients who tend to minimize or deny their disorder, and to avoid over-treatment of conditions which are overemphasized by patients' distorted perception of skin appearance. Even though skin signs of eating disorders improve with weight gain, the dermatologist will be asked to treat the dermatological conditions mentioned above. Xerosis improves with moisturizing ointments and humidification of the environment. Acne may be treated with topical benzoyl peroxide, antibacterials or azaleic acid; these agents may be

  17. [Clinical studies of pediatric malabsorption syndromes].

    PubMed

    Hosoyamada, Takashi

    2006-11-01

    Multiple cases with various types of pediatric malabsorption syndromes were evaluated. The clinical manifestations, laboratory findings, pathophysiology, and histopathological descriptions of each patient were analyzed in an effort to clear the pathogenesis of the malabsorption syndromes and the treatments were undertaken. The cases studied, included one patient with cystic fibrosis, two with lactose intolerance with lactosuria (Durand type), one with primary intestinal lymphangiectasia, two with familial hypobetalipoproteinemia, one with Hartnup disease, one with congenital chroride diarrhea, one with acrodermatitis enteropathica, one with intestinal nodular lymphoid hyperplasia (NLH), five with intractable diarrhea of early infancy and four with glycogenosis type Ia. Each case description and outcome is described below: 1. A 15-year-old Japanese boy with cystic fibrosis presented with severe symptoms, including pancreatic insufficiency, bronchiectasis, pneumothorax and hemoptysis. His prognosis was poor. Analysis of the CFTR genes of this patient revealed a homozygous large deletion from intron 16 to 17b. 2. In the sibling case of Durand type lactose intolerance, the subjects'disaccaridase activity of the small bowel, including lactase, were within normal limits. The results of per oral and per intraduodenal lactose tolerance tests confirmed lactosuria in both. These observations suggested, not only an abnormal gastric condition, but also duodenal and intestinal mucosal abnormal permeability of lactose. 3. In the case of primary intestinal lymphangiectasia, the subject had a lymphedematous right arm and hand, a grossly coarsened mucosal pattern of the upper gastrointestinal tract (identified via radiologic examination) and the presence of lymphangiectasia (confirmed via duodenal mucosal biopsy). The major laboratory findings were hypoalbuminemia, decreased immunoglobulin levels and lymphopenia resulting from loss of lymph fluid and protein into the gastro