Acrodermatitis Enteropathica

Key Points
Rare inherited metabolic disorder which affects the uptake of zinc from the gut
Characterized by dermatitis around natural orifices and on the limbs, hair loss, and diarrhea
Fatal within a few years if left untreated

Acrodermatitis enteropathica is a metabolic disorder caused by a gene mutation which affects an individual's ability to absorb zinc, but similar clinical findings can also result from acquired zinc deficiency. It causes Dermatitis around the mouth and other natural orifices and on the distal limbs, hair loss, and diarrhea.

Features of the disease usually manifest early in life, as an infant is weaned from breast milk. Erythematous patches and plaques of dry, scaly skin appear, often around the mouth and anus, and also appear on the hands, feet and scalp. This is sometimes accompanied by loss of hair from the scalp, eyebrows and eyelashes. Skin lesions are vulnerable to bacterial infection, and accompanied by diarrhea.The infant may be irritable and inconsolable.

Differential Diagnosis (Other conditions with similar appearance)
Acquired Zinc deficiency
Atopic Dermatitis
Cutaneous candidiasis
Infantile seborrheic Dermatitis

Diagnosis
Key Points
Diagnosis based on skin appearance, leading to testing of zinc levels to ensure diagnosis

Acrodermatitis enteropathica is generally diagnosed based on the appearance of the skin and the existence of other symptoms. This leads to testing of zinc levels to ensure diagnosis

Treatment
Untreated, Acrodermatitis Enteropathica is fatal within a few years
Treatment goal is to achieve and maintain blood zinc levels by the use of lifetime oral zinc supplementation

Written by Chris Schach