Open AccessA clinical case of familial enteropathic acrodermatitis caused by a new genetic mutation in exon 10 of the SLC39A4 gene
Author(s) -
А. С. Стадникова,
О. Б. Тамразова,
И. Н. Захарова,
Yu.А. Dmitrieva,
А. В. Таганов,
Anastasiya E. Yudina,
G. E Bagramova
Publication year - 2021
Publication title -
alʹmanah kliničeskoj mediciny
Language(s) - English
Resource type - Journals
eISSN - 2587-9294
pISSN - 2072-0505
DOI - 10.18786/2072-0505-2021-49-069
Subject(s) - medicine , dermatology , acrodermatitis enteropathica , acrodermatitis , pathology , zinc deficiency (plant disorder) , micronutrient , alternative medicine
Enteropathic acrodermatitis is a rare form of genodermatoses, a group of hereditary disorders with prevailing skin lesions. The disease manifestation in children is associated with withdrawal of breastfeeding and switch to the cow milk-based products, which makes it difficult to differentiate enteropathic acrodermatitis from allergic dermatoses. We describe a familial case of enteropathic acrodermatitis in a 4-month old girl with advanced skin lesions and diarrhea. The familial history positive for enteropathic dermatitis made it possible to immediately suspect this diagnosis in the patient and to administer a zinc sulfate-containing agent before the genetic test results have become available. The response to therapy was obtained within a few days. Genetic testing of the patient identified a new mutation in exon 10 of the SLC39A4 gene. Proper collection of the past history and physician's vigilance to zinc-deficient conditions in acral dermatitis combined with alopecia and diarrhea in infants would allow for a timely and proper diagnosis and choice of a subsequent management strategy.