Sample records for chilblains

  1. Major cluster of chilblain cases in a cold dry Western Australian winter.

    PubMed

    Larkins, Nicholas; Murray, Kevin J

    2013-02-01

    Primary chilblains are an idiopathic cold-induced vasculopathy affecting the soft tissues of the hands and feet. Secondary chilblains occur in different forms of vasculitis and chronic autoimmune connective tissue disorders. Idiopathic chilblains are rarely reported in children and may generate significant anxiety to doctors and patients. We describe a cluster of idiopathic chilblains encountered over the winter of 2010 in Perth, Western Australia. This is a retrospective review of patients identified from a prospectively compiled database of all new cases seen in our department. Data on history, examination, investigations, prescribed treatments and outcomes were collected. Thirty-two patients with isolated idiopathic chilblains were included, including 20 females and 12 males with a median age at onset of 13.5 years. Lesions were papular with signs of peripheral vasoconstriction causing acrocyanosis, and uncomfortable due to pain and/or pruritis in most. Thickening of the small joints was common where lesions involved these areas. Ulceration of lesions also occurred in some. One patient required hospitalisation for secondary bacterial infection. Most received some form of treatment including non-steroidal anti-inflammatory drugs, prednisolone or nifedipine. Most patients improved spontaneously with warmer weather or responded to cold protection advice. All had resolved completely by late spring (November). Our cluster of chilblains was associated with an unusually cold winter in Perth 2010. It is the largest series reported in the literature, suggesting that chilblains may be more common than previously thought. Chilblains are almost always benign in nature and patients are systemically well and usually need no further investigation and only symptomatic treatment. Prompt recognition can avoid excessive investigation and anxiety, allowing appropriate simple advice and treatment. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  2. Chilblains in Southern California: two case reports and a review of the literature.

    PubMed

    Gordon, Rebecca; Arikian, Anne M; Pakula, Anita S

    2014-11-22

    Chilblains or perniosis is an acrally located cutaneous eruption that occurs with exposure to cold. Chilblains can be classified into primary and secondary forms. The primary or idiopathic form is not associated with an underlying disease and is clinically indistinguishable from the secondary form. The secondary form is associated with an underlying condition such as connective tissue disease, monoclonal gammopathy, cryoglobulinemia, or chronic myelomonocytic leukemia. Histopathology cannot accurately help distinguish the primary from secondary forms of chilblains. This article will raise the awareness of chilblains by presenting two unusual case reports of chilblains in men from Southern California with discussion of the appropriate evaluation and treatment of this condition. Case 1: A 56-year-old Caucasian man presented in January to a Southern California primary care clinic with a report of tingling and burning in both feet, followed by bluish discoloration and swelling as well as blistering. He had no unusual cold exposure prior to the onset of his symptoms. He had a history of "white attacks" in his hands consistent with Raynaud's phenomenon. His symptoms gradually resolved over a 3-week period. Case 2: A 53-year-old Caucasian man also presented to a Southern California clinic in January with a 3-week history of painful tingling in his toes, and subsequent purplish-black discoloration of the toes in both feet. His symptoms occurred 1 week after a skiing trip. He had partial improvement with warming measures. His symptoms resolved 2 weeks after his initial presentation. Chilblains is a relatively uncommon entity in warmer climates but can present during the winter months. Primary care providers in warmer climates such as Southern California in the USA may be unfamiliar with its presentation. It can be diagnosed clinically by the appearance of typical lesions during the cold damp season. Through a thorough history, physical examination and selected laboratory evaluation, underlying connective tissue disease or a mimic such as vasculitis or cutaneous leukemia can be excluded.

  3. Chilblains

    MedlinePlus

    ... to rule out other conditions. If you have diabetes or poor circulation, healing may be impaired. Be cautious and seek care. Causes No one knows exactly what causes chilblains. They may be an abnormal reaction of your body to cold exposure followed by ...

  4. Nifedipine vs Placebo for Treatment of Chronic Chilblains: A Randomized Controlled Trial

    PubMed Central

    Souwer, Ibo H.; Bor, Jacobus H. J.; Smits, Paul; Lagro-Janssen, Antoine L. M.

    2016-01-01

    PURPOSE Nifedipine is commonly prescribed for the treatment of chilblains (pernio, perniosis) on the basis of observational studies and a single small, older clinical trial. We aimed to confirm the proposed superiority of oral nifedipine 60 mg per day over placebo for treatment of chronic chilblains in primary care. METHODS We performed a randomized, placebo-controlled, double-blind, crossover trial, closely following the design of the older trial. A total of 32 patients with chronic chilblains were randomly assigned to nifedipine (30 mg controlled release twice a day) or placebo. The primary outcome was patient-reported complaints; the secondary outcome was patient-reported disability. Both were assessed from daily ratings on 100-mm visual analogue scales recorded in a diary. We took ambient temperatures into account and checked for a carry-over effect, and monitored for adverse effects. RESULTS After 6 weeks of treatment, mean scores on the visual analogue scale on complaints showed a nonsignificant difference of 1.84 mm (95% CI, −6.67 to 2.99 mm) in favor of nifedipine (P = .44). Mean scores on the visual analogue scale on disability showed a nonsignificant difference of 0.56 mm (95% CI, −2.97 to 4.09 mm) in favor of placebo (P = .75). There was no carry-over effect of prior study treatment. Nifedipine was associated with significantly lower systolic blood pressure and a significantly higher incidence of edema. CONCLUSIONS In our study, nifedipine was not superior to placebo for treating chronic chilblains. These findings contrast with those of the older study and do not support routine use of nifedipine for this condition. PMID:27621162

  5. Verrucous form of chilblain lupus erythematosus.

    PubMed

    Pock, L; Petrovská, P; Becvár, R; Mandys, V; Hercogová, J

    2001-09-01

    A 45-year-old woman had symmetrical livid plaques with yellowish hyperkeratoses for 5 years, which progressed on to the fingers and toes and on the soles of the feet. Two years later creamy, whitish areas and maceration appeared on the buccal mucosa and the lips. A skin biopsy revealed massive collagen hyaline degeneration in the perivascular area, hyperkeratosis and hypergranulosis, small lymphocyte infiltrates with several melanophages and extravasates of erythrocytes in the upper corium in perivascular areas and hydropic degeneration of basal keratinocytes. The findings using direct immunofluorescence were compatible with lupus erythematosus (LE). Laboratory investigation showed a slight leucopenia and thrombopenia, a slightly elevated erythrocyte sedimentation rate, hypocomplementaemia C3 and C4, a high titre of rheumatoid factor and antinuclear antibodies positivity of extractable nuclear antigen. The results reflected probably the development of a systemic form of the disease. The patient was successfully managed by methylprednisolone and hydroxychloroquine. After 1 year of therapy, a new skin biopsy revealed a substantial reduction of hyperkeratosis and hyaline degeneration of collagen tissue in the perivascular areas. The combination of the extensive hyperkeratosis and hyalinization thus seems to be features of the long-lasting, untreated lesions in chilblain LE.

  6. Frostbite and other cold injuries in the heroic age of Antarctic exploration.

    PubMed

    Guly, Henry R

    2012-12-01

    Frostbite and other cold injuries on the early polar expeditions were common. This paper explains how frostbite was described, prevented, and treated on the Antarctic expeditions of the heroic age, comparing them with modern recommendations. Nonfreezing cold injury probably also occurred but was not differentiated from frostbite, and chilblains were also described. Copyright © 2012 Wilderness Medical Society. Published by Elsevier Inc. All rights reserved.

  7. Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy.

    PubMed

    Chia, Justin; Eroglu, Fehime Kara; Özen, Seza; Orhan, Dicle; Montealegre-Sanchez, Gina; de Jesus, Adriana A; Goldbach-Mansky, Raphaela; Cowen, Edward W

    2016-01-01

    Key teaching points • SAVI is a recently described interferonopathy resulting from constitutive action of STING and up-regulation of IFN-β signaling. • SAVI is characterized by facial erythema with telangiectasia, acral/cold-sensitive tissue ulceration and amputations, and interstitial lung disease. It has overlapping features with Aicardi-Goutières syndrome and familial chilblain lupus. • Traditional immunosuppressive medications and biologic therapies appear to be of limited benefit, but JAK inhibitors may impact disease progression. Published by Elsevier Inc.

  8. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi–Goutières and Singleton–Merten syndromes

    PubMed Central

    Bursztejn, A.-C.; Briggs, T.A.; del Toro Duany, Y.; Anderson, B.H.; O’Sullivan, J.; Williams, S.G.; Bodemer, C.; Fraitag, S.; Gebhard, F.; Leheup, B.; Lemelle, I.; Oojageer, A.; Raffo, E.; Schmitt, E.; Rice, G.I.; Hur, S.; Crow, Y.J.

    2016-01-01

    Summary Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi–Goutières syndrome. To date, seven genes related to Aicardi–Goutières syndrome have been described. The most recently described encodes the cytosolic double-stranded RNA receptor IFIH1 (also known as MDA5), a key component of the antiviral type I interferon-mediated innate immune response. Enhanced type I interferon signalling secondary to gain-of-function mutations in IFIH1 can result in a range of neuroinflammatory phenotypes including classical Aicardi–Goutières syndrome. It is of note that none of the patients with a neurological phenotype so far described with mutations in this gene was reported to demonstrate cutaneous involvement. We present a family segregating a heterozygous pathogenic mutation in IFIH1 showing dermatological involvement as a prominent feature, variably associated with neurological disturbance and premature tooth loss. All three affected individuals exhibited increased expression of interferon-stimulated genes in whole blood, and the mutant protein resulted in enhanced interferon signalling in vitro, both in the basal state and following ligand stimulation. Our results further extend the phenotypic spectrum associated with mutations in IFIH1, indicating that the disease can be confined predominantly to the skin, while also highlighting phenotypic overlap with both Aicardi–Goutières syndrome and Singleton–Merten syndrome. PMID:26284909

  9. Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA binding domain of ADAR1.

    PubMed

    Kono, M; Suganuma, M; Shimada, T; Ishikura, Y; Watanabe, S; Takeichi, T; Muro, Y; Akiyama, M

    2018-05-18

    Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant skin disease caused by a heterozygous mutation of ADAR1. 1 DSH is characterized by a mixture of hyper- and hypo-pigmented small macules in the extremities. Among the mutations, the pathogenicity of in-frame deletion in regions other than the deaminase domain has not been clarified in DSH. 2 This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  10. Cutaneous Lupus Erythematosus: Diagnosis and treatment

    PubMed Central

    Okon, Lauren G.; Werth, Victoria P.

    2013-01-01

    Cutaneous lupus erythematosus encompasses a wide range of dermatologic manifestations, which may or may not be associated with the development of systemic disease. Cutaneous lupus is divided into several subtypes, including acute cutaneous lupus erythematosus, subacute cutaneous lupus erythematosus, and chronic cutaneous lupus erythematosus. Chronic cutaneous lupus erythematosus includes discoid lupus erythematosus, lupus erythematosus profundus, chilblain cutaneous lupus, and lupus tumidus. Diagnosis of these diseases requires proper classification of the subtype, through a combination of physical exam, laboratory studies, histology, antibody serology, and occasionally direct immunofluorescence, while ensuring to exclude systemic disease. Treatment of cutaneous lupus consists of patient education on proper sun protection along with appropriate topical and systemic agents. Systemic agents are indicated in cases of widespread, scarring, or treatment-refractory disease. In this review, we discuss issues in classification and diagnosis of the various subtypes of CLE, as well as provide an update on therapeutic management. PMID:24238695

  11. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

    PubMed

    Abdel-Salam, Ghada M H; Abdel-Hamid, Mohamed S; Hassan, Nihal A; Issa, Mahmoud Y; Effat, Laila; Ismail, Samira; Aglan, Mona S; Zaki, Maha S

    2013-08-01

    We describe five patients from three different families with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), which was molecularly confirmed by homozygosity for the g.51G >A and g.55G >A mutations in RNU4ATAC, respectively. The patients showed the classical phenotype and demonstrated in addition variable degrees of gyration abnormalities and malformations of the callosal body with an interhemispheric cyst. One patient also showed underdevelopment of the cerebellar vermis. This confirms that cortical malformations should be considered cardinal manifestations of MOPD I. Oculocutaneous albinism, brain hemorrhage and chilblains have been found to be associated with MOPD I. The present study showed lack of retinal pigmentation in three patients of whom two had an unusually fair complexion of hair and skin. One patient was found to have a hematoma in the left thalamus. This may indicate that both pigmentary abnormalities and vascular anomalies may be part of the phenotype of MOPD I as well. Copyright © 2013 Wiley Periodicals, Inc.

  12. [A case of systemic lupus erythematosus complicated with psoriasis vulgaris].

    PubMed

    Shidara, Kumi; Soejima, Makoto; Shiseki, Mariko; Ohta, Syuji; Nishinarita, Makoto

    2003-12-01

    A 49-years-old female admitted to our hospital because of skin eruptions on the extremities in 1985. She had suffered from polyarthralgia, skin eruptions since 1983. Physical examinations revealed discoid lesion, central nervous system involvement, and polyarthritis. Laboratory tests revealed leukopenia, thrombocytopenia, and hypocomplementemia. Antinuclear antibody, ant-DNA antibody, LE test were positive. From these findings, she was diagnosed as systemic lupus erythematosus (SLE). She developed lupus peritonitis in 1990 and 1994, which was successfully treated by steroid pulse therapy. Since then, the activity of SLE was in good control under administration of prednisolone 10 mg/day. Chilblain lupus was seen from 1993, Raynaud's phenomenon from 1996, and she further developed subcutaneous induration on her chest, back and upper extremities in 1999. Skin biopsy findings were compatible with lupus panniculitis. In 2002, erythematous patches with scales were observed on her right hand and left knee, and these skin lesions were histologically diagnosed as psoriasis vulgaris. An autoimmune response similar to SLE is speculated in psoriasis. We describe a rare case of SLE with various skin lesions including psoriasis vulgaris.

  13. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.

    PubMed

    Abdel-Salam, Ghada M H; Miyake, Noriko; Eid, Maha M; Abdel-Hamid, Mohamed S; Hassan, Nihal A; Eid, Ola M; Effat, Laila K; El-Badry, Tarek H; El-Kamah, Ghada Y; El-Darouti, Mohamed; Matsumoto, Naomichi

    2011-11-01

    The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I. Copyright © 2011 Wiley Periodicals, Inc.

  14. Human urine-based therapeutics in Spain from the early 20th century to the present: a historical literature overview and a present-day case study.

    PubMed

    Vallejo, José Ramón; Aparicio Mena, Alfonso J; González, José Antonio

    2017-06-01

    Human urine is currently the subject of biomedical investigations as a potential therapeutic resource and it continues to be used in remedies in different cultures and societies, including the Spanish culture. In this study we gather etnomedical knowledge about urotherapy and determine their associated symbolisms in Spain. A literature overview and a case study were carried out to compile urine-based remedies and as a direct analysis of symbolic systems. Urotherapy is widespread in Spanish folk medicine. Among the 204 collected remedies, those related to treatment of diseases or skin conditions predominate (63%). Remedies have been reported for the treatment of skin diseases such as eczema, chloasma, alopecia, etc. to treat or alleviate burns, chilblains, wounds or skin chapping, and as a treatment of venomous bites. Most of the collected remedies have an associated naturalist symbolism, based on local traditions and the transmission of empirical initial knowledge. The use of urine in Spain is a result of the interaction of two types of practice: a local and traditional urotherapy, rural and with a utilitarian purpose, and a technical urotherapy, limited to an urban environment and a naturopathic medicine.

  15. [Renaissance medicine and the discovery of the lesser circulation: the role of Michael Servetus (1511-1553)].

    PubMed

    Bragazzi, Nicola Luigi; Raffi, Alessandro; Siri, Anna; Tornali, Cristina; Martini, Mariano

    2017-12-01

    Human urine is currently the subject of biomedical investigations as a potential therapeutic resource and it continues to be used in remedies in different cultures and societies, including the Spanish culture. In this study we gather etnomedical knowledge about urotherapy and determine their associated symbolisms in Spain. A literature overview and a case study were carried out to compile urine-based remedies and as a direct analysis of symbolic systems. Urotherapy is widespread in Spanish folk medicine. Among the 204 collected remedies, those related to treatment of diseases or skin conditions predominate (63%). Remedies have been reported for the treatment of skin diseases such as eczema, chloasma, alopecia, etc. to treat or alleviate burns, chilblains, wounds or skin chapping, and as a treatment of venomous bites. Most of the collected remedies have an associated naturalist symbolism, based on local traditions and the transmission of empirical initial knowledge. The use of urine in Spain is a result of the interaction of two types of practice: a local and traditional urotherapy, rural and with a utilitarian purpose, and a technical urotherapy, limited to an urban environment and a naturopathic medicine.

  16. [Medical and ecological assessment of climate effects on urolithiasis morbidity in population of Primorsky territory].

    PubMed

    Koval'chuk, V K

    2004-01-01

    The article presents medicoecological estimation of quantitative relations between monsoon climate and urolithiasis primary morbidity in the Primorsky Territory. Quantitative estimation of the climate was performed by V. I. Rusanov (1973) who calculated daily meteorological data for 1 p.m. throughout 1991-1999. Primary urolithiasis morbidity for this period of time was provided by regional health department. The data were processed by methods of medical mapping and paired correlation analysis. In the Territory, mapping revealed the same location of the zones with high frequency of discomfortable weather of class V and VI causing chilblain in positive air temperatures and zones with elevated primary urolithiasis morbidity in children and adults. Correlation analysis confirmed mapping results and determined significant negative correlations between frequency of relatively comfortable moment weather classes II-IV and morbidity of children and adults, positive correlation between frequency of discomfortable class VI and adult morbidity. Thus, high frequency of days per year with discomfortable classes of moment weather in low positive air temperatures may be one of the factors of urolithiasis risk in population of the Primorsky Territory. Climatic factors should be taken into consideration in planning primary prophylaxis of this disease in the Primorsky Territory.

  17. Skin conditions in figure skaters, ice-hockey players and speed skaters: part II - cold-induced, infectious and inflammatory dermatoses.

    PubMed

    Tlougan, Brook E; Mancini, Anthony J; Mandell, Jenny A; Cohen, David E; Sanchez, Miguel R

    2011-11-01

    Participation in ice-skating sports, particularly figure skating, ice hockey and speed skating, has increased in recent years. Competitive athletes in these sports experience a range of dermatological injuries related to mechanical factors: exposure to cold temperatures, infectious agents and inflammation. Part I of this two part review discussed the mechanical dermatoses affecting ice-skating athletes that result from friction, pressure, and chronic irritation related to athletic equipment and contact with surfaces. Here, in Part II, we review the cold-induced, infectious and inflammatory skin conditions observed in ice-skating athletes. Cold-induced dermatoses experienced by ice-skating athletes result from specific physiological effects of cold exposure on the skin. These conditions include physiological livedo reticularis, chilblains (pernio), Raynaud phenomenon, cold panniculitis, frostnip and frostbite. Frostbite, that is the literal freezing of tissue, occurs with specific symptoms that progress in a stepwise fashion, starting with frostnip. Treatment involves gradual forms of rewarming and the use of friction massages and pain medications as needed. Calcium channel blockers, including nifedipine, are the mainstay of pharmacological therapy for the major nonfreezing cold-induced dermatoses including chilblains and Raynaud phenomenon. Raynaud phenomenon, a vasculopathy involving recurrent vasospasm of the fingers and toes in response to cold, is especially common in figure skaters. Protective clothing and insulation, avoidance of smoking and vasoconstrictive medications, maintaining a dry environment around the skin, cold avoidance when possible as well as certain physical manoeuvres that promote vasodilation are useful preventative measures. Infectious conditions most often seen in ice-skating athletes include tinea pedis, onychomycosis, pitted keratolysis, warts and folliculitis. Awareness, prompt treatment and the use of preventative measures are particularly important in managing such dermatoses that are easily spread from person to person in training facilities. The use of well ventilated footgear and synthetic substances to keep feet dry, as well as wearing sandals in shared facilities and maintaining good personal hygiene are very helpful in preventing transmission. Inflammatory conditions that may be seen in ice-skating athletes include allergic contact dermatitis, palmoplantar eccrine hidradenitis, exercise-induced purpuric eruptions and urticaria. Several materials commonly used in ice hockey and figure skating cause contact dermatitis. Identification of the allergen is essential and patch testing may be required. Exercise-induced purpuric eruptions often occur after exercise, are rarely indicative of a chronic venous disorder or other haematological abnormality and the lesions typically resolve spontaneously. The subtypes of urticaria most commonly seen in athletes are acute forms induced by physical stimuli, such as exercise, temperature, sunlight, water or particular levels of external pressure. Cholinergic urticaria is the most common type of physical urticaria seen in athletes aged 30 years and under. Occasionally, skaters may develop eating disorders and other related behaviours some of which have skin manifestations that are discussed herein. We hope that this comprehensive review will aid sports medicine practitioners, dermatologists and other physicians in the diagnosis and treatment of these dermatoses.

  18. Aicardi-Goutieres syndrome: from patients to genes and beyond.

    PubMed

    Chahwan, C; Chahwan, R

    2012-05-01

    Aicardi-Goutières syndrome (AGS) is a hereditary neurodegenerative disorder characterized mainly by early onset progressive encephalopathy, concomitant with an increase in interferon-α levels in the cerebrospinal fluid. Although it was initially mistaken for intrauterine viral infections, AGS has now been genetically attributed to a lack of adequate processing of cellular nucleic acid debris, which culminates in the perpetual trigger of the innate and acquired immune responses. Although the exact mechanisms governing AGS are not fully understood, significant strides have been recently achieved in better characterizing the disorder and the molecular functions of the five known proteins found mutated in AGS. Studies have now uncovered that AGS is tightly linked with the predisposition to other autoimmune disorders such as familial chilblain lupus and systemic lupus erythematosus. Moreover, at least two of the proteins mutated in AGS, namely TREX1 and SAMHD1, also seem to have antagonistic roles in safeguarding humans from human immunodeficiency virus (HIV) infections. We hereby synthesize the current developments into the greater framework of AGS and suggest that a better understanding of AGS might help usher a better treatment not only for some autoimmune disorders but also possibly for patients suffering from HIV infections, too. © 2011 John Wiley & Sons A/S.

  19. The Place of Operations upon the Sympathetic System in the Treatment of Poliomyelitis.

    PubMed

    Ogilvie, W H

    1933-02-01

    Revived interest in sympathetic surgery originated in orthopaedics. Royle's theories and operations. Their trial, failure and final abandonment. Value of sympathetic operations widely investigated; while finality has not been reached they have proved effective for three main purposes: (1) Relief of pain especially in bladder diseases. (2) Removal of inhibition and sphincteric spasm in alimentary, anal and bladder diseases. (3) Production of vaso-dilatation in (a) vaso-spastic diseases; (b) vaso-degenerative diseases; (c) conditions not due to arterial disease in which increased blood supply is beneficial.Poliomyelitis falls into the last group.-Cause of poor blood supply uncertain; ? lack of function; ? upset of some reflex; ? paralysis of vaso-dilators.TWO PROBLEMS ARISE, BOTH OF WHICH MAY BE TREATED BY OPERATIONS ON THE SYMPATHETIC: (1) The cold, blue limb, which develops chilblains, sores, or even deep ulcers every winter, often stopping treatment and requiring patient to be confined to bed. (2) The limb with considerable and rapidly increasing shortening. Sometimes these limbs show a fair return of power, and were it not for the heavy boot made necessary by the shortening, the patient could be made to walk well.Method of attack.-(1) Periarterial sympathectomy; (2) ramisectomy; (3) ganglionectomy. Physiological basis of each. Criticism of (1) and (2).Details of the operation for ganglionectomy.-Alternative approaches and their advantages. The immediate and late results of the procedure.Five cases discussed briefly.

  20. Maladaptive plasticity: imprinting of past experiences onto phantom limb schemata.

    PubMed

    Giummarra, Melita Joy; Georgiou-Karistianis, Nellie; Nicholls, Michael E R; Gibson, Stephen J; Chou, Michael; Bradshaw, John L

    2011-10-01

    Phantom limb perception is common following amputation, and is sometimes characterised by pain that resembles the characteristics, intensity or location of past pain. We tested Flor's model that phantom pain results from memory for long-lasting znoxious input. We report a questionnaire study of 283 amputees, that explored the experience of painful, non-painful and postural somatosensory memories in the phantom. We explore the impact of pre-amputation pain and impairment duration, and complications in the limb (eg, infection, gangrene, surgery, and vascular disease). Differences in mood, coping and adjustment to amputation are also explored in those with somatosensory pain memories. Our findings support Flor's model, as amputation-related and non-amputation-related pain memories, and non-painful memories comprised pains or sensations that were either enduring/recurring pains or sensations (eg, ingrown toenail, corns, chilblains, arthritis-type pain in winter, night-cramps, or holding a tennis racquet), or resulted from a painful event with a "core-trauma" element (eg, fracture, crushing/penetration injury). Pain memories related to amputation were more common following functional impairment before amputation; infection or surgery prior to amputation; or having diabetic or vascular amputations-which are associated with multiple complications, including neuropathic changes, infection and prior surgery. Furthermore, participants with amputation-related pain memories exhibited higher sensory pain ratings, as well as poorer mood and adjustment to the limitations of amputation. We propose that somatosensory pain memories likely relate to the generation and maintenance of limb representations upon which intense or emotionally powerful past experiences have been imprinted.

  1. Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    PubMed Central

    Crow, Yanick J.; Chase, Diana S.; Schmidt, Johanna Lowenstein; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S.; Abdel-Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M.; Bahi-Buisson, Nadia; Bailey, Kathryn M.; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W.; Bernard, Geneviève; Bianchi, Marika; de Villemeur, Thierry Billette; Blair, Edward M.; Bloom, Miriam; Burlina, Alberto B.; Carpanelli, Maria Luisa; Carvalho, Daniel R.; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E.; Chitayat, David A.; Collins, Abigail E.; Corcoles, Concepcion Sierra; Cordeiro, Nuno J.V.; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C.; D’Arrigo, Stefano; De Goede, Christian G.E.L.; De Laet, Corinne; De Waele, Liesbeth M.H.; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C.; Fazzi, Elisa; Ferrie, Colin D.; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R.; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D.; Kirk, Edwin P.; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J.; Lin, Jean-Pierre S.-M.; Linnankivi, Tarja; Mackay, Mark T.; Marom, Daphna R.; Lourenço, Charles Marques; McKee, Shane A.; Moroni, Isabella; Morton, Jenny E.V.; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J.; Olivieri, Ivana; Ostergaard, John R.; Pérez-Dueñas, Belén; Prendiville, Julie S.; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A.; Sinha, Gyanranjan P.; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I.; Straussberg, Rachel; Swoboda, Kathryn J.; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y.; Naude, Johann te Water; Teik, Keng Wee; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S.; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B.; Wassmer, Evangeline; Webb, Hannah J.; Whitehouse, William P.; Whitney, Robyn N.; Zaki, Maha S.; Zuberi, Sameer M.; Livingston, John H.; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I.

    2015-01-01

    Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi–Goutières syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials. PMID:25604658

  2. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

    PubMed

    Crow, Yanick J; Chase, Diana S; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M A; Gornall, Hannah L; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Catherine; Allon-Shalev, Stavit; Arellano, Montse; Ariaudo, Giada; Aswani, Vijay; Babul-Hirji, Riyana; Baildam, Eileen M; Bahi-Buisson, Nadia; Bailey, Kathryn M; Barnerias, Christine; Barth, Magalie; Battini, Roberta; Beresford, Michael W; Bernard, Geneviève; Bianchi, Marika; Billette de Villemeur, Thierry; Blair, Edward M; Bloom, Miriam; Burlina, Alberto B; Carpanelli, Maria Luisa; Carvalho, Daniel R; Castro-Gago, Manuel; Cavallini, Anna; Cereda, Cristina; Chandler, Kate E; Chitayat, David A; Collins, Abigail E; Sierra Corcoles, Concepcion; Cordeiro, Nuno J V; Crichiutti, Giovanni; Dabydeen, Lyvia; Dale, Russell C; D'Arrigo, Stefano; De Goede, Christian G E L; De Laet, Corinne; De Waele, Liesbeth M H; Denzler, Ines; Desguerre, Isabelle; Devriendt, Koenraad; Di Rocco, Maja; Fahey, Michael C; Fazzi, Elisa; Ferrie, Colin D; Figueiredo, António; Gener, Blanca; Goizet, Cyril; Gowrinathan, Nirmala R; Gowrishankar, Kalpana; Hanrahan, Donncha; Isidor, Bertrand; Kara, Bülent; Khan, Nasaim; King, Mary D; Kirk, Edwin P; Kumar, Ram; Lagae, Lieven; Landrieu, Pierre; Lauffer, Heinz; Laugel, Vincent; La Piana, Roberta; Lim, Ming J; Lin, Jean-Pierre S-M; Linnankivi, Tarja; Mackay, Mark T; Marom, Daphna R; Marques Lourenço, Charles; McKee, Shane A; Moroni, Isabella; Morton, Jenny E V; Moutard, Marie-Laure; Murray, Kevin; Nabbout, Rima; Nampoothiri, Sheela; Nunez-Enamorado, Noemi; Oades, Patrick J; Olivieri, Ivana; Ostergaard, John R; Pérez-Dueñas, Belén; Prendiville, Julie S; Ramesh, Venkateswaran; Rasmussen, Magnhild; Régal, Luc; Ricci, Federica; Rio, Marlène; Rodriguez, Diana; Roubertie, Agathe; Salvatici, Elisabetta; Segers, Karin A; Sinha, Gyanranjan P; Soler, Doriette; Spiegel, Ronen; Stödberg, Tommy I; Straussberg, Rachel; Swoboda, Kathryn J; Suri, Mohnish; Tacke, Uta; Tan, Tiong Y; te Water Naude, Johann; Wee Teik, Keng; Thomas, Maya Mary; Till, Marianne; Tonduti, Davide; Valente, Enza Maria; Van Coster, Rudy Noel; van der Knaap, Marjo S; Vassallo, Grace; Vijzelaar, Raymon; Vogt, Julie; Wallace, Geoffrey B; Wassmer, Evangeline; Webb, Hannah J; Whitehouse, William P; Whitney, Robyn N; Zaki, Maha S; Zuberi, Sameer M; Livingston, John H; Rozenberg, Flore; Lebon, Pierre; Vanderver, Adeline; Orcesi, Simona; Rice, Gillian I

    2015-02-01

    Aicardi-Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi-Goutières syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials. © 2015 Wiley Periodicals, Inc.

  3. Ethnophytotherapeutical research in the high Molise region (Central-Southern Italy)

    PubMed Central

    Guarrera, Paolo Maria; Lucchese, Fernando; Medori, Simone

    2008-01-01

    Background In the years 2003–2005 research was carried out concerning ethno-medicine in the high Molise (central- southern Italy), a region that has been the object of very little investigation from the ethnobotanical point of view. Upper Molise is a continuation of the mountain profiles of the Abruzzi Appenines: a series of hills, steep slopes and deep fluvial valleys making communications difficult. Primordial traditions (e.g. harvest feasts) are typical of the region. Methods Field data were collected through open interviews in the field. These were conducted on both an individual and group level, fresh plants gathered from surrounding areas being displayed. In other cases, individual interviews were conducted by accompanying the person involved to the places where they perform their activities (for example, in the woods with woodcutters, kitchen gardens and fields with housewives, pastures with shepherds, etc.). In total 54 individuals were interviewed. Results Data of 70 taxa belonging to 39 families were gathered. Among the species, 64 are used in human therapy, 5 as insect repellents, 11 in veterinary medicine, 1 to keep eggs and cheeses and 4 for magic purposes. The most important findings in ethno-medicine relate to the lichen Lobaria pulmonaria (L.) Hoffm. (wounds) and to some vascular plant species: Asplenium trichomanes L. and Ceterach officinarum Willd. (to regularize menstruation), Cyclamen hederifolium (chilblains), Centaurium erythraea Rafn. and Pulmonaria apennina Cristof. & Puppi (bruises), while in the ethno-veterinary field, we have Valeriana officinalis L. (wounds sustained by mules). Also worthy of note, given the isolation of the area, is the number of plants used to protect foodstuffs from parasites, among which Allium sativum L. and Capsicum frutescens L. Conclusion The research revealed a deep-rooted and widespread habit of husbanding the family's resources. Whilst isolation and snowfalls contributed to the widespread knowledge of means of conserving foodstuffs, they also led to the use of products easily available within each home. The values of E.I. (ethnobotanicity index) for the upper Molise region are considered amongst the highest in Italian areas. Nevertheless, like the values for other areas of Italy, they are lower than those of many Spanish areas, perhaps (and not only) because of the more rapid cultural erosion experienced in Italy. PMID:18334029

  4. Single-Port Microthoracoscopic Sympathicotomy for the Treatment of Primary Palmar Hyperhidrosis: an Analysis of 56 Consecutive Cases.

    PubMed

    Shi, Hongcan; Shu, Yusheng; Shi, Weiping; Lu, Shichun; Sun, Chao

    2015-08-01

    The objective of this study is to investigate the feasibility and safety of single-port microthoracoscopic thoracic sympathicotomy for the treatment of palmar hyperhidrosis. Between January 2008 and March 2013, 56 patients (36 male, 20 female; mean age 25.6 years, age range 16-39 years) underwent single-port microthoracoscopic thoracic sympathicotomy for palmar hyperhidrosis. Nineteen patients (33.9 %) had moderate palmar hyperhidrosis that could thoroughly wet a handkerchief, and 37 (66.1 %) had severe palmar hyperhidrosis with sweat dripping from the palm. Eight patients (14.3 %) had a positive family history, 34 (60.7 %) had plantar hyperhidrosis, 22 (39.3 %) had axillary hyperhidrosis, and 20 (35.7 %) had both plantar and axillary hyperhidrosis. In addition, 21 patients (37.5 %) had palmar pompholyx, five (8.9 %) had keratolysis exfoliativa, 10 (17.9 %) had chilblains, and nine (16.1 %) had palmar rhagades. A single 10-mm skin incision was made in the third intercostal space at the anterior axillary line, posterior to the pectoralis muscle. A 5-mm microthoracoscope and a 3-mm microelectrocautery hook were inserted through a single port into the thoracic cavity. The third and fourth ribs were identified, and the sympathetic chain was cut using the microelectrocautery hook. The bypassing nerve fibers, such as the Kuntz nerve fiber bundle, were ablated for 2-3 cm along the surface of the rib. The palmar temperature was recorded before and after sympathicotomy. All 56 procedures were completed using single-port microthoracoscopy. No postoperative complications such as hemorrhage, wound infection, hemopneumothorax, bradycardia, or Horner's syndrome were observed. Bilateral procedures were completed in 20-56 min (mean 30 min). The palmar temperature increased by 2.2 ± 0.3 °C after surgery. The postoperative hospital stay was 1-4 days (mean 2.5 days). Mild compensatory sweating of the back and thigh occurred in five patients (8.9 %) at 2-3 days after surgery and disappeared at 7-15 days. The patients were followed up for 28.5 months (range 1-62 months). Hyperhidrosis resolved in both hands after surgery, and the previously wet, cold hands became dry and warm. The efficacy rate was 100 %. Plantar hyperhidrosis was also significantly reduced in 33 of the 34 patients with this condition (remission rate 97.1 %), and axillary hyperhidrosis was significantly reduced in 19 of 22 patients (remission rate 86.4 %). Eighteen of the 20 patients (90.0 %) with both plantar and axillary hyperhidrosis experienced significant alleviation of their symptoms. Single-port microthoracoscopic thoracic sympathicotomy is a safe, convenient, and effective method of treating palmar hyperhidrosis. This procedure can accurately locate the sympathetic chain with a small incision, minimal invasiveness, and good cosmetic results. The procedure is suitable for extensive clinical use.

  5. Ethnomedicinal plants used to treat skin diseases by Tharu community of district Udham Singh Nagar, Uttarakhand, India.

    PubMed

    Sharma, Jyotsana; Gairola, Sumeet; Sharma, Yash Pal; Gaur, R D

    2014-12-02

    Tharu community is the largest primitive indigenous community of the Uttarakhand, India. In this article we have scientifically enumerated medicinal plants and herbal preparations used by the Tharu community to treat various skin diseases, and discussed dermatological properties of these plants in the light of previous ethnomedicinal, microbiological, pharmacological, toxicological, phytochemical and clinical studies. Ethnomedicinal survey was conducted in different villages of Tharu community located in district Udham Singh Nagar, Uttarakhand, India. Ethnomedicinal information on plants used to treat various skin diseases was collected from 122 individuals (93 males and 29 females), including 35 experienced herbal practitioners and 87 local villagers. For each of the recorded plant species the use value (UV) and fidelity level (FL) was calculated. The informant consensus factor (Fic) was also calculated to find out the homogeneity in the information given by the informants. A total of 90 plant species belonging to 86 genera and 48 families were used by the Tharu community to treat various skin diseases viz., wounds (38 spp.), boils (32 spp.), cuts (18 spp.), leprosy (11 spp.), eczema (10 spp.), itching (7 spp.), ringworm (5 spp.), burns (4 spp.), leucoderma (4 spp.), cracked heels (2 spp.), dandruff (3 spp.), body infection (2 spp.), chilblains (2 spp.), hair fall (2 spp.) and toes infection (2 spp.). Information on botanical name, family, vernacular name, ailments treated, mode and dose of herbal preparations, UV and FL values are provided for each of the recorded species. According to UV value most preferred plant species used to treat skin diseases by Tharu community was Ricinus communis L. followed by Tridax procumbens (L.) L., Azadirachta indica A. Juss., Ageratum conyzoides and Allium cepa L. The present study has revealed significant information on various medicinal plants used to treat skin diseases by Tharu community. Literature review has confirmed most of the claims made by the Tharu community regarding treatment of various skin diseases by the reported plants. The literature review has also revealed that products from very few of the reported plants are available in market, while most of the reported plants are still under preclinical or clinical trials. There are various known phytochemicals, and antibiotic, antibacterial, antiviral and antifungal agents present in these plants which may be synthesized or transformed to make pharmaceuticals. Some of the reported plants have shown promising results in preclinical trails and there is a need of clinical trials to see their safety and efficacy in treating various skin diseases. These plants may be targeted for development of new medicines, ointments or drugs for the treatment of skin diseases. However further toxicological, preclinical and clinical studies are needed to validate claims about little worked out plant species reported in the present study viz., Sida cordata (Burm. F.) Borss. Waalk., Millettia extensa (Benth.) Baker, Caesulia axillaris Roxb., Ehretia laevis Roxb., Vanda tessellate (Roxb.) Hook. Ex G.Don. and Eualaliopsis binata (Retz.) C.E. Hubb. Further studies on these plants are recommended to assess their potential in development of new skin care products. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  6. Musculoskeletal manifestations of Fabry disease: A retrospective study.

    PubMed

    Lidove, Olivier; Zeller, Valérie; Chicheportiche, Valérie; Meyssonnier, Vanina; Sené, Thomas; Godot, Sophie; Ziza, Jean-Marc

    2016-07-01

    Fabry disease is a rare X-linked metabolic disorder characterized by a deficiency in the enzyme alpha-galactosidase A. Both males and females can be affected. The main presenting symptom is pain in the extremities, whereas at a more advanced stage, the manifestations include hypertrophic cardiomyopathy, cardiac dysrhythmia, proteinuria, chronic kidney dysfunction, stroke, and hearing loss. When not diagnosed and treated, Fabry disease causes early death. No studies specifically designed to describe the musculoskeletal manifestations of Fabry disease are available. We conducted a single-center retrospective study of patients receiving follow-up at a Fabry disease referral center. We described the musculoskeletal manifestations and analyzed the differential diagnoses. Our study included 40 patients belonging to 20 families, including 25 females with a mean age of 44.2 years (range, 20-76 years) and 15 males with a mean age of 40.1 years (range, 16-61 years). Mean age at the diagnosis of Fabry disease was 37.2 years (range, 7-71 years) in the females and 26.9 years (range, 9-51 years) in the males. Specific enzyme replacement therapy was given to 10 (40%) females and 12 (80%) males. Musculoskeletal manifestations were as follows: past or present pain in the extremities (13 females and 10 males), combined in some patients with vasomotor disorders in the extremities and telangiectasia; exercise intolerance (12 females and 12 males); osteoporotic fractures (2 brothers aged 45 and 44 years, respectively); osteoporosis (3 females, aged 57, 63, and 75 years, respectively), which contributed to death in the oldest patient; osteopenia (2 females aged 38 and 47 years, respectively; and 1 male aged 43 years); Charcot foot and lymphedema with serious infectious complications (4 males older than 40 years), with avascular osteonecrosis of the lower limbs in 2 cases; toe amputations (3 cases); bilateral lower-limb amputation (1 case); abnormally slender lower limbs (5 females and 8 males); acute gout (3 males with severe chronic kidney failure); and carpal tunnel syndrome (1 female and 1 male, both younger than 40 years). Mistaken diagnoses that were made at an early stage, contributing to delay the identification of Fabry disease, included rheumatic fever (2 females and 2 males), growing pains (2 males), pain with paralysis (1 female), chilblains of the lower limbs (1 female), and erythermalgia (1 female). In adulthood, the following mistaken diagnoses were made: Sjögren's syndrome and/or sicca syndrome (6 females), systemic sclerosis (1 male), dysautonomia (1 female), and familial Mediterranean fever (1 female). The diagnosis of Fabry disease is usually delayed, due to confusion with more common disorders. Musculoskeletal manifestations may constitute the presenting symptoms. Past or present pain in the extremities is typical. Osteoporosis may develop early and become severe. Together with the family history, the presence of musculoskeletal manifestations can lead to the correct diagnosis by prompting alpha-galactosidase assays in males and genetic testing in females. Fabry disease is often responsible for musculoskeletal manifestations, of which the most common are pain in the extremities and osteoporosis. These manifestations can be inaugural and lead to diagnostic wanderings. They require specific treatment strategies. Copyright © 2015 Société française de rhumatologie. Published by Elsevier SAS. All rights reserved.

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