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Acrodermatitis Enteropathica: A Novel SLC 39A4 Gene Mutation in a Patient with Normal Zinc Levels
Author(s) -
GarzaRodríguez Verónica,
FuenteGarcía Alberto,
LiyWong Carmen,
Küry Sébastien,
Schmitt Sébastien,
Jamall Ijaz S.,
OcampoCandiani Jorge
Publication year - 2015
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12555
Subject(s) - acrodermatitis enteropathica , missense mutation , acrodermatitis , compound heterozygosity , medicine , mutation , phenotype , gene , zinc deficiency (plant disorder) , dermatology , diarrhea , genetics , zinc , pathology , biology , chemistry , micronutrient , alternative medicine , organic chemistry
Acrodermatitis enteropathica ( AE ) is a rare disease that results from a defective gene, SLC 39A4 , and is characterized by dermatitis, alopecia, and diarrhea. We report a case of AE presenting with only periorificial and acral dermatitis in which genetic testing revealed two novel compound heterozygous missense mutations for SLC 39A4 . This case demonstrates that not all AE mutations alter zinc transporters in the same manner and highlights the phenotypic variability of AE .
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