Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
The clinical data and gene sequencing results in a child with acrodermatitis enteropathica were retrospectively reported, and the related literature was reviewed. A girl aged 9 years and 4 months presented with a repeated skin rash, mainly distributed in the perioral, anogenital, and acral areas, ac...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2022.972030/full |
| _version_ | 1797983881653125120 |
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| author | Wenjing Hua Wenjing Hua Jialin Zou Yuan Zhuang Taiguang Zhou |
| author_facet | Wenjing Hua Wenjing Hua Jialin Zou Yuan Zhuang Taiguang Zhou |
| author_sort | Wenjing Hua |
| collection | DOAJ |
| description | The clinical data and gene sequencing results in a child with acrodermatitis enteropathica were retrospectively reported, and the related literature was reviewed. A girl aged 9 years and 4 months presented with a repeated skin rash, mainly distributed in the perioral, anogenital, and acral areas, accompanied with alopecia, and a low blood zinc level was found many times. A significant improvement was seen after continuous zinc supplementation. The genetic sequencing test demonstrated that the patient had compound heterozygous for two SLC39A4 mutations: c.1466dupT (p.S490Efs*155) and c.295G > A (p.A99T), and her parents were heterozygous carriers of these two mutations. An improvement was achieved after continuous zinc supplementation. This case report might guide further research on this aspect. |
| first_indexed | 2024-04-11T06:54:16Z |
| format | Article |
| id | doaj.art-1ea98bc9c4be4e96a2a16d52669f3e42 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-04-11T06:54:16Z |
| publishDate | 2022-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-1ea98bc9c4be4e96a2a16d52669f3e422022-12-22T04:39:05ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602022-11-011010.3389/fped.2022.972030972030Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutationWenjing Hua0Wenjing Hua1Jialin Zou2Yuan Zhuang3Taiguang Zhou4Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Emergency, West China Second University Hospital, Sichuan University, Chengdu, ChinaDepartment of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaDepartment of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, ChinaThe clinical data and gene sequencing results in a child with acrodermatitis enteropathica were retrospectively reported, and the related literature was reviewed. A girl aged 9 years and 4 months presented with a repeated skin rash, mainly distributed in the perioral, anogenital, and acral areas, accompanied with alopecia, and a low blood zinc level was found many times. A significant improvement was seen after continuous zinc supplementation. The genetic sequencing test demonstrated that the patient had compound heterozygous for two SLC39A4 mutations: c.1466dupT (p.S490Efs*155) and c.295G > A (p.A99T), and her parents were heterozygous carriers of these two mutations. An improvement was achieved after continuous zinc supplementation. This case report might guide further research on this aspect.https://www.frontiersin.org/articles/10.3389/fped.2022.972030/fullacrodermatitis enteropathicaSLC39A4 genemutationzinc deficiencychild |
| spellingShingle | Wenjing Hua Wenjing Hua Jialin Zou Yuan Zhuang Taiguang Zhou Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation Frontiers in Pediatrics acrodermatitis enteropathica SLC39A4 gene mutation zinc deficiency child |
| title | Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation |
| title_full | Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation |
| title_fullStr | Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation |
| title_full_unstemmed | Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation |
| title_short | Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation |
| title_sort | case report acrodermatitis enteropathica result from a novel slc39a4 gene mutation |
| topic | acrodermatitis enteropathica SLC39A4 gene mutation zinc deficiency child |
| url | https://www.frontiersin.org/articles/10.3389/fped.2022.972030/full |
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