Acrodermatitis enteropathica

Acrodermatitis enteropathica
Acrodermatitis enteropathica inheritance
Classification and external resources
Specialty	endocrinology
ICD-10	E83.2 (ILDS E83.210)
ICD-9-CM	686.8
OMIM	201100
DiseasesDB	29602
eMedicine	derm/5
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Acrodermatitis enteropathica is an autosomal recessive metabolic disorder affecting the uptake of zinc, characterized by periorificial and acral dermatitis, alopecia, and diarrhea. This disease also is related to deficiency of zinc due to congenital causes. Other names for acrodermatitis enteropathica include:Brandt syndrome, and Danbolt–Closs syndrome

Features of acrodermatitis enteropathica start appearing in the first few months of life, as the infant discontinues breast milk. There are erythematous patches and plaques of dry, scaly skin. The lesions may appear eczematous, or may evolve further into crusted vesicles, bullas or pustules. The lesions are frequent around the mouth and anus, and also in hands, feet and, scalp. There may be suppurative inflammation of the nail fold surrounding the nail plate, known as paronychia. Alopecia (loss of hair from the scalp, eyebrows, and eyelashes) may occur. The skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi like Candida albicans. These skin lesions are accompanied by diarrhea.

A mutation of the SLC39A4 gene on chromosome 8 q24.3 is responsible for the disorder. The SLC39A4 gene encodes a transmembrane protein that serves as a zinc uptake protein. The features of the disease usually start manifesting as an infant is weaned from breast milk. This has led some scientists to suspect that human milk contains a beneficial substance that helps uptake of zinc and prevents the disease from being manifested while an infant is on breast milk.

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