Heterogeneity in the genetic alterations and in the clinical presentation of acrodermatitis enteropathic: Case report and review of the literature

Abstract

Acrodermatitis enteropathic (AE) is a rare autosomal recessive disorder due to a zinc deficiency and characterized by a classical triad of symptoms: dermatitis, alopecia, and diarrhea. The defective gene is SLC39A4, which encodes a zinc transporter. Nevertheless many abnormalities in SLC39A4 have been relieved, only 50% of patients show alterations. Here is reported the case of an infant with mild and incomplete manifestations of AE, for whom the SLC39A4 genetic test was performed. A novel mutation in SLC39A4 was identified. Zinc replacement improved rapidly the skin lesions. Our case highlights the importance of suspecting this rare condition and to perform the genetic test even in those patients who do not fulfil the classical triad of symptoms. Further efforts should be addressed to identify a more strength correlation between genotype and phenotype of this disorder.

Zinc and skin: an update

“…The classic triad of perioral, intertriginous and acral dermatitis (Figure ), alopecia and diarrhea only occurs in roughly one‐third of the patients . First signs and symptoms usually appear shortly after weaning.…”

“…Irrespective of its cause, zinc deficiency clinically presents with the classic triad of dermatitis, alopecia and diarrhea . The present review highlights the various causes and clinical features as well as the diagnosis and treatment of zinc deficiency dermatitis.…”

Clinical manifestations and differential diagnosis of atopic dermatitis in young children

“…Течение заболевания длительное, и без специфического лечения больные умирают от истощения и интеркуррентных заболеваний. При мягком течении в период полового созревания возможно некоторое смягчение симптоматики [23]. Диагноз подтверждается с помощью определения уровня цинка в крови.…”

Zink und Haut: ein Update

“…Die klassische Symptomtriade aus perioraler, intertriginöser und akraler Dermatitis (Abbildung ), Alopezie und Diarrhoe liegt allerdings nur bei etwa einem Drittel der Patienten vor . Erste Symptome treten meist kurz nach dem Abstillen auf.…”

“…Unabhängig von der Ätiologie führt Zinkmangel zur klassischen Symptomtriade aus Dermatitis, Alopezie und Diarrhoe . Dieser Review gibt einen Überblick über die verschiedenen Ursachen, die Klinik, Diagnostik und Therapie der Zinkmangeldermatitiden.…”