Self-improving dominant dystrophic epidermolysis bullosa: phenotypic variability associated with COL7A1 mutation p.Gly2037Glu.
作者信息
Diociaiuti Andrea, Guerriero Cristina, Cesario Claudia, Rossi Sabrina, Rotunno Roberta, Zambruno Giovanna, El Hachem May
机构信息
Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Institute of Dermatology, Catholic University and Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
出版信息
Eur J Dermatol. 2020 Dec 1;30(6):753-754. doi: 10.1684/ejd.2020.3922.
Abstract
摘要
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本文引用的文献
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Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.遗传性大疱性表皮松解症及其他皮肤脆性疾病的共识性重新分类
Br J Dermatol. 2020 Oct;183(4):614-627. doi: 10.1111/bjd.18921. Epub 2020 Mar 11.
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Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.大疱性表皮松解症实验室诊断临床实践指南。
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Intraepidermal Type VII Collagen by Immunofluorescence Mapping: A Specific Finding for Bullous Dermolysis of the Newborn.通过免疫荧光定位检测表皮内VII型胶原蛋白：新生儿大疱性皮肤松解症的一项特异性发现。
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Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.先天性皮肤发育不全在新生儿大疱性皮肤松解症中频繁出现。
Acta Derm Venereol. 2016 Aug 23;96(6):784-7. doi: 10.2340/00015555-2364.
5
COL7A1 mutation G2037E causes epidermal retention of type VII collagen.COL7A1基因G2037E突变导致VII型胶原蛋白滞留于表皮。
J Hum Genet. 2006;51(5):418-423. doi: 10.1007/s10038-006-0378-5. Epub 2006 Mar 24.
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Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).由VII型胶原蛋白基因（COL7A1）中的一种新型甘氨酸替代突变引起的显性营养不良性大疱性表皮松解症（帕西尼型）
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Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.
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