The Acrodermatitis Enteropathica Mutation Transiently Affects Zinc Metabolism in Human Fibroblasts
نویسندگان
چکیده
منابع مشابه
Acrodermatitis enteropathica.
AIM The aim of the work was the presentation of one case with Acrodermatitis enteropathica. METHODS Acrodermatitis enteropathica is diagnosed based on the pedigree, typical clinical manifestations on the skin, laboratory results, small bowel biopsy, skin biopsy and kariotype. RESULTS The patient was a two years old male toddler, hospitalized due to skin changes, chronic diarrhoea and total ...
متن کاملAcrodermatitis Enteropathica
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 fe...
متن کاملZinc and di-iodohydroxyquinoline therapy in acrodermatitis enteropathica.
A 25-year-old patient with acrodermatitis enteropathica who had been treated with di-iodohydroxyquinoline for 20 years was changed to zinc sulphate therapy and studied under full metabolic balance control for zinc, calcium, magnesium, and inorganic phosphorus. The results obtained indicate that there is only a small overall deficit of body zinc stores in this disease and that the function of di...
متن کاملA Case of Acrodermatitis Enteropathica
Clinicians should be mindful of all paediatric skin diseases, which present in a similar manner during the first months of life. Acrodermatitis enteropathica (AE) is a rare, bullous disorder that has a significant impact on the child’s quality of life and is fatal if untreated. AE is either a recessively inherited or a transiently acquired disorder. The hereditary form is caused by a genetic mu...
متن کاملOcular histopathology of acrodermatitis enteropathica.
Acrodermatitis enteropathica is the clinical expression of congenital zinc deficiency and is now treated with supplemental zinc. This report details the ocular histopathology of a child who died before efficacious treatment was available. The findings include corneal epithelial thinning and loss of polarity, anterior corneal scarring and loss of Bowman's membrane, cataract formation, ciliary bo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Nutrition
سال: 1996
ISSN: 0022-3166,1541-6100
DOI: 10.1093/jn/126.1.219