Girish Mahajan (Editor)

Acrodermatitis enteropathica

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Specialty  endocrinology
ICD-9-CM  686.8
DiseasesDB  29602
ICD-10  E83.2 (ILDS E83.210)
OMIM  201100
eMedicine  derm/5
Acrodermatitis enteropathica

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


Signs and symptoms

Among the presentation of the condition in individuals who have acrodermatitis enteropathica is the following:

  • Blistering of skin
  • Dry skin
  • Emotional lability
  • Glossitis
  • Pustule
  • Alopecia (loss of hair from the scalp, eyebrows, and eyelashes) may occur. Skin lesions may be secondarily infected by bacteria such as Staphylococcus aureus or fungi like Candida albicans. These skin lesions are accompanied by diarrhea.


    Acrodermatitis enteropathica, in terms of genetics, indicates that 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. Zinc is very important as it is involved in approximately 100 enzymes function in the human body.


    The diagnosis of an individual with acrodermatitis enteropathica includes each of the following:

  • Plasma zinc level(lab)
  • Light microscopy(skin biopsy)
  • Electron microscopy(histology)
  • Treatment

    Acrodermatitis enteropathica without treatment, is fatal and affected individuals may die within a few years. There is no cure for the condition, treatment includes lifelong dietary zinc supplementation.


    Acrodermatitis enteropathica Wikipedia

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