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A 6-year-old boy initially presented at the age of 1 week with perineal and perianal rash. The rash was persistent and at the age of 8 months he developed gastroenteritis. He was found to have borderline zinc deficiency. However, there was no improvement with zinc supplementation and the rash progressed to well-demarcated psoriasiform plaques involving the perianal area, penis, scrotum, upper thighs, face, axillae, right elbow and neck. He also developed palmoplantar keratoderma. Initially the hair was sparse and brittle. He developed recurrent chest and skin infections. There was a family history of malignant hyperpyrexia and mitochondrial myopathy.
Skin biopsy was nonspecific, showing chronic superficial dermatitis. Analysis of skin and blood for recognized keratin and connexin disorders did not show any abnormalities. Gastroenterology investigations revealed oesophagitis, gastritis and patchy pancolitis. Routine blood tests were normal. Lactate levels, acylcarnitine profile, organic acids, tubulopathy screen, glycosaminoglycans, biotinidase, betamethylcarboxyl CoA carboxylase, holocarboxylase synthetase, prolidase and tyrosine aminotransferase levels were normal. Autoimmune screen and immunological investigations were normal. Blood tests for coeliac disease were negative. Electromyography and DNA analysis for mitochondrial myopathy were normal. Sweat studies and cystic fibrosis gene analysis were normal. DNA analysis for malignant hyperpyrexia was negative.
His skin condition gradually improved on treatment with acitretin 10 mg three times a week and topical emollients. He is still troubled by recurrent infections. His gastroenteritis is well controlled by an oligoantigenic diet.
We are grateful to Professor John Harper and Professor David Kelsall for their help in managing this child. 相似文献
Skin biopsy was nonspecific, showing chronic superficial dermatitis. Analysis of skin and blood for recognized keratin and connexin disorders did not show any abnormalities. Gastroenterology investigations revealed oesophagitis, gastritis and patchy pancolitis. Routine blood tests were normal. Lactate levels, acylcarnitine profile, organic acids, tubulopathy screen, glycosaminoglycans, biotinidase, betamethylcarboxyl CoA carboxylase, holocarboxylase synthetase, prolidase and tyrosine aminotransferase levels were normal. Autoimmune screen and immunological investigations were normal. Blood tests for coeliac disease were negative. Electromyography and DNA analysis for mitochondrial myopathy were normal. Sweat studies and cystic fibrosis gene analysis were normal. DNA analysis for malignant hyperpyrexia was negative.
His skin condition gradually improved on treatment with acitretin 10 mg three times a week and topical emollients. He is still troubled by recurrent infections. His gastroenteritis is well controlled by an oligoantigenic diet.
We are grateful to Professor John Harper and Professor David Kelsall for their help in managing this child. 相似文献
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Erythrodema secondary to subacute cutaneous lupus erythematosus (SCLE) is rare. We report a 61-year-old man presenting with erythroderma secondary to SCLE. During erythrodermic phase our patient still had few annular and polycyclic lesions characteristic of SCLE. He was successfully treated with topical and oral corticosteriods. 相似文献
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How are we using systemic drugs to treat psoriasis in children? An insight into current clinical U.K. practice 下载免费PDF全文
E. Burden‐Teh M.L. Lam S.M. Taibjee A. Taylor S. Webster S. Dolman C. Jury D. Caruana S. Darne A. Carmichael S. Natarajan T. McPherson A. Moore R. Katugampola M. Kalavala D. Al‐Ismail L. Richards V. Jones S. Batul Syed M. Glover J. Hughes E. Anderson B. Hughes I. Helbling R. Murphy 《The British journal of dermatology》2015,173(2):614-618
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Unusual presentation of human giant orf (ecthyma contagiosum) 总被引:1,自引:0,他引:1
Key SJ Catania J Mustafa SF Logan R Kalavala M Hodder SC Patton DW 《The Journal of craniofacial surgery》2007,18(5):1076-1078
Giant orf is a zoonotic infection that is endemic in sheep and goats. It may be transmitted to humans by direct contact with infected animals or contaminated objects and is typically found on the hands. We report the case of a sheep farmer with facial orf that proliferated dramatically with the formation of satellite lesions after curettage. 相似文献
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