Acrodermatitis enteropathica
Acrodermatitis enteropathica is an
autosomal recessive disorder characterized by periorificial (around the natural orifices) and acral (in the limbs)
dermatitis,
alopecia (loss of hair), and
diarrhea. Similar features may be present in
acquired zinc deficiency. This disease also is related to deficiency of zinc due to congenital causes. Some synonyms of this condition are:Brandt SyndromeDanbolt-Cross SyndromeCongenital Zinc Deficiency
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Acrodermatitis enteropathica
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 characterized by the simultaneous occurrence of skin inflammation (dermatitis) and diarrhea. 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.