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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| Format: | Article |
| Jezik: | English |
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"Paediatrician" Publishers LLC
2016-09-01
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| Serija: | Вопросы современной педиатрии |
| Teme: | |
| Online dostop: | https://vsp.spr-journal.ru/jour/article/view/1658 |
| _version_ | 1826561810770165760 |
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| author | Tatiana V. Kulichenko Yulia S. Lashkova Anatoly A. Pushkov Kirill V. Savostianov |
| author_facet | Tatiana V. Kulichenko Yulia S. Lashkova Anatoly A. Pushkov Kirill V. Savostianov |
| author_sort | Tatiana V. Kulichenko |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T03:44:46Z |
| format | Article |
| id | doaj.art-9e877dc3acaa4bb5aafb76ad40d98134 |
| institution | Directory Open Access Journal |
| issn | 1682-5527 1682-5535 |
| language | English |
| last_indexed | 2025-03-14T09:38:06Z |
| publishDate | 2016-09-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-9e877dc3acaa4bb5aafb76ad40d981342025-03-02T11:34:19Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352016-09-0115439139510.15690/vsp.v15i4.15911619Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in LiteratureTatiana V. Kulichenko0Yulia S. Lashkova1Anatoly A. Pushkov2Kirill V. Savostianov3Scientific Center of Children Health, Moscow, Russian Federation Sechenov First Moscow State Medical University, Moscow, Russian FederationScientific Center of Children Health, Moscow, Russian FederationScientific Center of Children Health, Moscow, Russian FederationScientific Center of Children Health, Moscow, Russian FederationEnteropathic 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.https://vsp.spr-journal.ru/jour/article/view/1658enteropathic acrodermatitischildrenzinc deficiencyslc39a4 gene. |
| spellingShingle | Tatiana V. Kulichenko Yulia S. Lashkova Anatoly A. Pushkov Kirill V. Savostianov Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature Вопросы современной педиатрии enteropathic acrodermatitis children zinc deficiency slc39a4 gene. |
| title | Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature |
| title_full | Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature |
| title_fullStr | Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature |
| title_full_unstemmed | Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature |
| title_short | Case of Enteropathic Acrodermatitis Due To Genetic Mutations Not Previously Described in Literature |
| title_sort | case of enteropathic acrodermatitis due to genetic mutations not previously described in literature |
| topic | enteropathic acrodermatitis children zinc deficiency slc39a4 gene. |
| url | https://vsp.spr-journal.ru/jour/article/view/1658 |
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