Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature
https://doi.org/10.15690/vsp.v15i4.1591
Abstract
Enteropathic acrodermatitis is a disease associated with inborn zinc metabolism disorders. It is characterized by skin lesions around natural body orifices (periorificial dermatitis) and limbs (acrodermatitis), alopecia and diarrhea. Symptoms are associated with zinc deficiency due to malabsorption of this trace element in the small intestine. The article describes a case of enteropathic acrodermatitis in a boy aged 18 months with severe skin lesions and diarrhea. The patient has two mutations in the SLC39A4 gene in a compound heterozygous state not previously described in the world literature. The effect of the zinc drug treatment was observed within a few days.
About the Authors
Tatiana V. Kulichenko
Scientific Center of Children Health, Moscow, Russian Federation
Sechenov First Moscow State Medical University, Moscow, Russian Federation
Russian Federation
Russian Federation
Yulia S. Lashkova
Scientific Center of Children Health, Moscow, Russian Federation
Russian Federation
Russian Federation
Anatoly A. Pushkov
Scientific Center of Children Health, Moscow, Russian Federation
Russian Federation
Russian Federation
Kirill V. Savostianov
Scientific Center of Children Health, Moscow, Russian Federation
Russian Federation
Russian Federation
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Review
For citations:
Kulichenko T.V., Lashkova Yu.S., Pushkov A.A., Savostianov K.V. Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature. Current Pediatrics. 2016;15(4):391-395. (In Russ.) https://doi.org/10.15690/vsp.v15i4.1591
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