Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature
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...
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| Main Authors: | , , , |
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| Format: | Book |
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"Paediatrician" Publishers LLC,
2016-09-01T00:00:00Z.
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| Summary: | 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. |
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| Item Description: | 1682-5527 1682-5535 10.15690/vsp.v15i4.1591 |