Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset

Felicidade Santiago; José Matos; Ana Moreno; Sébastien Schmitt; Stéphane Bézieau; Oscar Tellechea

doi:10.1111/j.1525-1470.2011.01487.x

Acrodermatitis enteropathica: a novel SLC39A4 gene mutation found in a patient with an early-onset

Pediatr Dermatol. 2011 Nov-Dec;28(6):735-736. doi: 10.1111/j.1525-1470.2011.01487.x. Epub 2011 Sep 9.

Authors

Felicidade Santiago¹, José Matos², Ana Moreno¹, Sébastien Schmitt³, Stéphane Bézieau³, Oscar Tellechea¹

Affiliations

¹ Dermatology Department, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
² Dermatology Department, Hospital São Teotónio, Viseu, Portugal.
³ Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France.

PMID: 21906148
DOI: 10.1111/j.1525-1470.2011.01487.x

Abstract

We report the case of a 3-month-old full-term, breast-fed infant with clinical and laboratorial findings consistent with acrodermatitis enteropathica. In addition, the mother had low zinc levels in her breast milk. Mutation analysis revealed a novel insertion in the SLC39A4 gene.

Publication types

Case Reports

MeSH terms

Acrodermatitis / drug therapy
Acrodermatitis / genetics*
Cation Transport Proteins / genetics*
Dietary Supplements
Exons
Female
Heterozygote
Homozygote
Humans
Infant
Male
Milk, Human / chemistry
Mutation*
Treatment Outcome
Zinc / blood
Zinc / deficiency
Zinc Sulfate / therapeutic use

Substances

Cation Transport Proteins
SLC39A4 protein, human
Zinc Sulfate
Zinc

Supplementary concepts

Acrodermatitis enteropathica