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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.

journal_name

Int J Immunopathol Pharmacol

journal_title

International journal of immunopathology and pharmacology

authors

Ricci G,Ferrari S,Calamelli E,Ricci L,Neri I,Patrizi A

doi

10.1177/0394632015606845

subject

Has Abstract

pub_date

2016-06-01 00:00:00

pages

274-9

issue

2

eissn

0394-6320

issn

2058-7384

pii

0394632015606845

journal_volume

29

pub_type

杂志文章

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