Murshidi Rand, Al-Lala Heba
Department of Dermatology, School of Medicine, University of Jordan, Amman, Jordan.
Case Rep Dermatol Med. 2023 Oct 12;2023:5577379. doi: 10.1155/2023/5577379. eCollection 2023.
Ectodermal dysplasias (ED) encompass a collection of conditions wherein the development of two or more structures derived from the ectoderm exhibits abnormal patterns. One example of such a rarity within the spectrum of ectodermal dysplasias is hidrotic ectodermal dysplasia, also known as Clouston syndrome. This particular variant is distinguished by a triad of clinical characteristics, which encompass partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. It stands as a scarcely encountered autosomal-dominant inherited disorder, resulting from a mutation in the GJB6 gene that encodes the gap junction protein connexin 30. We hereby document the case of a forty-five-year-old Jordanian woman who presented with alopecia affecting the scalp, eyebrows, and eyelashes, in addition to nail dystrophy. Interestingly, she did not manifest palmoplantar keratoderma. It is worth mentioning that several members of her extended family also manifested similar clinical features. Subsequent genetic testing conclusively established the diagnosis of Clouston syndrome. In light of this diagnosis, comprehensive counseling was extended to the patient.
外胚层发育不良（ED）包括一系列病症，其中源自外胚层的两个或更多结构的发育呈现异常模式。外胚层发育不良谱系中的一种罕见病症实例是汗孔性外胚层发育不良，也称为克劳斯通综合征。这种特殊变体的特征在于一组三联临床特征，包括部分至完全脱发、甲营养不良和掌跖角化过度。它是一种罕见的常染色体显性遗传性疾病，由编码缝隙连接蛋白连接蛋白30的GJB6基因突变引起。我们在此记录了一名45岁约旦女性的病例，她除了患有甲营养不良外，还出现了影响头皮、眉毛和睫毛的脱发。有趣的是，她没有表现出掌跖角化病。值得一提的是，她的大家庭中的几名成员也表现出类似的临床特征。随后的基因检测最终确诊为克劳斯通综合征。鉴于这一诊断结果，为患者提供了全面的咨询服务。
