Department of Pediatrics, Neonatal Division, University of Jordan, Amman, Jordan.
Australas J Dermatol. 2013 Aug;54(3):218-21. doi: 10.1111/j.1440-0960.2012.00945.x. Epub 2012 Sep 11.
The Herlitz junctional epidermolysis bullosa (H-JEB) subtype usually presents as a severe lethal inherited variant of epidermolysis bullosa (EB) caused by a homozygous mutation in the genes LAMA3, LMAB3, or LAMAC3. Each gene encodes one of the three chains of heterotrimer laminin-332 proteins (including the alpha-3 chain, beta-3 chain and gamma-2-chain) responsible for the adherence of the epidermis to the underlying dermis. The aim of this report is to add to the existing knowledge about EB by describing a novel mutation in a gene responsible for genodermatosis. A case of a Jordanian male neonate, born to healthy, first cousin consanguineous parents, who developed nonhealing blistering skin and mucous membrane lesions, crusted erosions with significant granulation tissue and dystrophic nails immediately after birth is described. The patient was diagnosed as having a novel LAMA3 mutation causing (H-JEB) by immunofluorescence mapping and molecular analysis. Both parents and this baby's sibling were shown to be heterozygous carriers of the same mutation. Pre-implantation diagnosis using molecular analysis for subsequent pregnancies in this family is crucial for managing any new pregnancy.
遗传性交界型大疱性表皮松解症（H-JEB）亚型通常表现为严重致命的遗传性大疱性表皮松解症（EB），由 LAMA3、LMAB3 或 LAMAC3 基因的纯合突变引起。每个基因编码异三聚体层粘连蛋白-332 蛋白的三条链之一（包括α-3 链、β-3 链和γ-2 链），负责表皮与真皮的附着。本报告的目的是通过描述一个负责遗传性皮肤病的基因中的新突变来增加对 EB 的现有认识。描述了一名约旦男性新生儿的病例，他出生于健康的、表亲近亲的父母，出生后立即出现非愈合性水疱性皮肤和黏膜病变、结痂性糜烂、有大量肉芽组织的显著糜烂和营养不良性指甲。通过免疫荧光图谱和分子分析，该患者被诊断为一种新的 LAMA3 突变导致的（H-JEB）。该突变在父母和患儿的同胞中均为杂合子携带者。对该家庭的后续妊娠进行分子分析的胚胎植入前诊断对于管理任何新的妊娠至关重要。
