Acrodermatitis Enteropathica

Acrodermatitis enteropathica (AE) is a rare hereditary (autosomal recessive) disorder of zinc deficiency. It is characterized by sever"e dermatitis (mainly hands, feet, mouth, genital region), chronic diarrhoea, retardation of growth and development, alopecia and increased proneness to infections. It was shown that mutations in the zinc transporter gene SLC39A4 is the cause of AE. The diagnosis is made by way of clinical presentation together with laboratory tests and can be confirmed by mutation analysis of the SLC39A4 gene.

It is a skin condition peculiar to children that may be accompanied by mild symptoms of fever and malaise. It may also be associated with hepatitis B infection or other viral infections. The lesions appear as small coppery-red, flat-topped firm papules that appear in crops and sometime in long linear strings, often symmetric. Symptoms of acrodermatitis enteropathica may occur within the first few months after birth and tend to appear shortly after discontinuation of breast-feeding.

Undiagnosed food allergy can lead to profound zinc deficiency. Food allergy should be suspected in a child with acquired AE.

Zinc treatment of the two patients with acrodermatitis enteropathica resulted in remission of the signs and symptoms of the disease within the first month of therapy. However, any short-term interruption (typically, 7-10 d) in oral zinc resulted in an almost immediate relapse, with the reappearance of the skin lesions.

References

  1. Acrodermatitis Enteropathica: Zinc Therapy and Possible Identification of a Carrier State Through Multiple Hair Zinc Analyses over Three Decades.Jamall IS, Ally KM, Yusuf S., 2006
  2. Acrodermatitis enteropathica and an overview of zinc metabolism.Maverakis E, Fung MA, Lynch PJ, Draznin M, Michael DJ, Ruben B, Fazel N., 2007
  3. Acrodermatitis enteropathica in full-term breast-fed infant, Kharfi M, Zaraa I, Kury S, Moisan JP, Kamoun MR.



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