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 inflamed. 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 in acrodermatitis enteropathica is an abnormally low blood zinc level, reflecting impaired zinc uptake. Treatment with zinc by mouth is curative.

* * *

acrodermatitis en·tero·path·i·ca -.ent-ə-rō-'path-i-kə n a severe human skin and gastrointestinal disease inherited as a recessive autosomal trait that is characterized by the symptoms of zinc deficiency and clears up when zinc is added to the diet

* * *

an inherited inability to absorb sufficient zinc, which causes poor growth, patchy sparse hair, a generalized skin rash, and chronic diarrhoea. Management consists of zinc supplements.

* * *

a severe gastrointestinal and cutaneous disease of neonates and infants, due to an autosomal recessive disorder of zinc uptake (gene locus: 8q24.3); babies suffer from failure to thrive and alopecia. The skin lesion is a vesiculopustular dermatitis, preferentially located around body orifices and on the head, hands, and feet. Gastrointestinal symptoms include diarrhea and steatorrhea.

Acrodermatitis enteropathica with typical U-shaped distribution.