Ghazzawi Rahaf A, Fatma Alfia
Obstetrics and Gynecology, International Medical Center Hospital, Jeddah, SAU.
Cureus. 2023 Jun 30;15(6):e41167. doi: 10.7759/cureus.41167. eCollection 2023 Jun.
Epidermolysis bullosa (EB) is a rare and genetically inherited skin fragility disorder causing mucocutaneous blistering, erosion, and ulceration as a result of even minor trauma. Junctional EB (JEB), which is a type of EB, is inherited via an autosomal recessive pattern and characterized by blisters that appear in the lamina lucida of the basement membrane zone, which is the junction between the epidermis and dermis. The integrin genes (ITGA6, ITGB4) are responsible for the majority of JEB mutations. We present a case of lethal JEB and pyloric atresia with aplasia cutis congenita (ACC), with a homozygous pathogenic variant identified in the ITGA6 gene, c.1688dup. The diagnosis was made by whole exome sequencing (WES) postnatally after consecutive third pregnancy loss in the last trimester in a consanguineous couple. As these cases have a poor prognosis, genetic counseling, invasive prenatal testing, and preimplantation genetic diagnosis (PGD) have an evolving and indispensable role in the management of future pregnancies.
大疱性表皮松解症（EB）是一种罕见的遗传性皮肤脆性疾病，即使是轻微创伤也会导致皮肤黏膜出现水疱、糜烂和溃疡。交界型大疱性表皮松解症（JEB）是EB的一种类型，通过常染色体隐性模式遗传，其特征是在基底膜带的透明层（即表皮和真皮之间的交界处）出现水疱。整合素基因（ITGA6、ITGB4）是大多数JEB突变的原因。我们报告一例致命性JEB合并先天性皮肤发育不全（ACC）及先天性幽门闭锁的病例，在ITGA6基因中鉴定出一个纯合致病性变异，即c.1688dup。该诊断是在一对近亲夫妇连续三次妊娠晚期流产后，通过产后全外显子测序（WES）做出的。由于这些病例预后较差，遗传咨询、侵入性产前检测和植入前基因诊断（PGD）在未来妊娠管理中发挥着越来越重要且不可或缺的作用。
