Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the literature

Abstract Background Acrodermatitis enteropathica (AE) is a rare autosomal recessive hereditary skin disease caused by mutations in the SLC39A4 gene and is characterized by periorificial dermatitis, alopecia and diarrhoea due to insufficient zinc absorption. Only one of the three known sets of twins...

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Bibliographic Details
Main Authors: Wei Zhong, Chao Yang, Lei Zhu, Yu-Qi Huang, Yong-Feng Chen
Format: Article
Language:English
Published: BMC 2020-01-01
Series:BMC Pediatrics
Subjects:
Acrodermatitis enteropathica
SLC39A4 gene
Mutation
Genotype-phenotype
Online Access:https://doi.org/10.1186/s12887-020-1942-4

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