Acrodermatitis enteropathica

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Acrodermatitis enteropathica

An historic model for the therapy of genetic disease. In an era (the 1950s) when inherited disorders were usually seen as hopeless, this progressive hereditary (autosomal recessive) disease of children was found treatable. Acrodermatitis enteropathica is characterised by the simultaneous occurrence of skin inflammation (dermatitis) and diarrhoea. The skin on the cheeks, elbows and knees and tissue about the mouth and anus are inflammed. There is also balding of the scalp, eyebrows and lashes, delayed wound healing and recurrent bacterial and fungal infections due to immune deficiency. The key laboratory finding is an abnormally low blood zinc level reflecting impaired zinc uptake. Treatment with zinc by mouth is curative.