As'ad Al-Hamad Dermatology Center, Salmiya, Kuwait.
National Diagnostic Epidermolysis Bullosa Laboratory, Viapath, St. Thomas' Hospital, London, UK.
Int J Dermatol. 2018 Sep;57(9):1058-1067. doi: 10.1111/ijd.14099. Epub 2018 Jul 16.
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous blistering skin disease, but in countries such as Kuwait, there are very limited data on the clinical and molecular pathology of EB. To improve understanding of EB in Kuwait, we report the experience of a local tertiary referral center over a 17.5 year period (January 2000-June 2017) in establishing clinical and molecular diagnoses.
Review of hospital records and diagnostic reports. Individual cases were diagnosed by combinations of clinical assessment, skin biopsy (immunohistochemistry and transmission electron microscopy), Sanger sequencing of EB genes, and whole exome sequencing.
Fifty-four families with EB were registered with the clinic over this period, 41 of whom (84 patients) participated in diagnostic studies. Thirty-seven of these 41 families had consanguineous marriages; 34 had recessive forms of EB, while only seven had dominant subtypes. Recurrent mutations were observed in epidermal dystonin, transglutaminase 5, and type VII collagen.
The prevalence of EB in Kuwait is approximately three times that of internationally cited rates with an over-representation of autosomal recessive variants. Establishing the molecular basis of EB in Kuwait with accurate diagnostic subtyping provides a basis for determining healthcare requirements and improving patient management of EB.
大疱性表皮松解症（EB）是一种临床表现和遗传异质性的水疱性皮肤病，但在科威特等国家，关于 EB 的临床和分子病理学的资料非常有限。为了增进对科威特 EB 的了解，我们报告了一家当地三级转诊中心在 17.5 年期间（2000 年 1 月至 2017 年 6 月）建立临床和分子诊断的经验。
回顾医院记录和诊断报告。通过临床评估、皮肤活检（免疫组织化学和透射电子显微镜）、EB 基因的 Sanger 测序和全外显子组测序的组合对个体病例进行诊断。
在此期间，该诊所共登记了 54 个 EB 家系，其中 41 个（84 例患者）参与了诊断研究。这 41 个家系中有 37 个有近亲结婚；34 个为常染色体隐性遗传型 EB，而仅有 7 个为显性亚型。表皮层粘连蛋白、转谷氨酰胺酶 5 和 VII 型胶原中存在反复出现的突变。
科威特的 EB 患病率约为国际报道率的三倍，且常染色体隐性变异型的比例过高。在科威特确定 EB 的分子基础，并进行准确的诊断亚型分类，为确定医疗保健需求和改善 EB 患者的管理提供了依据。
