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Integrin α3 mutation junctional epidermolysis bullosa presenting with hypotrichosis and lacrimal obstruction.

作者信息

Alshihry Hind, AlGhamdy Shahad D, Alhashem Amal, Almohanna Hind M

机构信息

Department of Dermatology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Department of Dermatology, King Fahad Medical City, Riyadh, Saudi Arabia.

出版信息

JAAD Case Rep. 2023 Oct 30;43:76-79. doi: 10.1016/j.jdcr.2023.10.007. eCollection 2024 Jan.

DOI:10.1016/j.jdcr.2023.10.007
PMID:38223367
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10784639/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/a35952176012/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/bdbc6e181557/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/bef73b376816/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/2910f637f52c/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/a35952176012/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/bdbc6e181557/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/bef73b376816/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/2910f637f52c/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/705d/10784639/a35952176012/gr4.jpg

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Pediatr Nephrol. 2023 May;38(5):1481-1483. doi: 10.1007/s00467-022-05711-1. Epub 2022 Aug 12.
2
A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.一名进展缓慢的 ILNEB 综合征患儿存在 ITGA3 基因纯合剪接突变。
Clin Chim Acta. 2021 Dec;523:430-436. doi: 10.1016/j.cca.2021.10.027. Epub 2021 Oct 28.
3
First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood.
首例因 ITGA3 致病性变异导致的 ILNEB 综合征成年患者。
Eur J Med Genet. 2021 Nov;64(11):104335. doi: 10.1016/j.ejmg.2021.104335. Epub 2021 Sep 4.
4
Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement.一个患有综合征性大疱性表皮松解症（ILNEB）且无肺部受累的家族中成人的纯合子ITGA3错义突变。
J Invest Dermatol. 2021 Nov;141(11):2752-2756. doi: 10.1016/j.jid.2021.03.029. Epub 2021 May 21.
5
Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations.由于复合杂合ITGA3突变导致的皮肤脆弱、肾畸形和间质性肺病。
J Dtsch Dermatol Ges. 2021 Jun;19(6):899-901. doi: 10.1111/ddg.14381. Epub 2021 Mar 25.
6
Successful kidney transplantation in a patient with neonatal-onset ILNEB.在一名新生儿起病的免疫缺陷、白细胞黏附缺陷和肠病患者中成功进行了肾移植。
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