Acrodermatitis enteropathica is a rare autosomal recessive genetic disorder characterised by periorificial dermatitis, alopecia and diarrhoea. It is caused by a mutation in the gene that codes for a membrane protein t...Acrodermatitis enteropathica is a rare autosomal recessive genetic disorder characterised by periorificial dermatitis, alopecia and diarrhoea. It is caused by a mutation in the gene that codes for a membrane protein that binds zinc. We report a case in a 7-month-old girl, admitted with altered general condition and scaly, pustular erythematous lesions, initially located in the occipital and cervical regions, and secondarily inguinal and on the knees. Management and outcome in this patient? Genetic assay was not available to confirm this rare genetic disease. A delay in establishing the diagnosis and a disastrous outcome did not save the patient despite the administration of zinc.展开更多
文摘Acrodermatitis enteropathica is a rare autosomal recessive genetic disorder characterised by periorificial dermatitis, alopecia and diarrhoea. It is caused by a mutation in the gene that codes for a membrane protein that binds zinc. We report a case in a 7-month-old girl, admitted with altered general condition and scaly, pustular erythematous lesions, initially located in the occipital and cervical regions, and secondarily inguinal and on the knees. Management and outcome in this patient? Genetic assay was not available to confirm this rare genetic disease. A delay in establishing the diagnosis and a disastrous outcome did not save the patient despite the administration of zinc.
