Ghorai Rudra, Singh Gurpremjit, Mittal Ankur, Panwar Vikas K, Talwar Harkirat
Urology, All India Institute of Medical Sciences, Rishikesh, IND.
Cureus. 2022 May 5;14(5):e24758. doi: 10.7759/cureus.24758. eCollection 2022 May.
Kindler syndrome is a rare autosomal recessive skin disorder. It results from mutation of the FERM domain containing kindlin-1 (FERMT1) that leads to loss of function of kindlin-1, which plays a role in keratinocyte adhesion, polarization, proliferation, and migration. It is characterized by skin blistering, photosensitivity, progressive poikiloderma, and skin atrophy. The mucosae genitourinary system is commonly affected. The urological manifestations include meatal stenosis, urethral stricture, phimosis, and scarring of the glans penis. Skin biopsy with genetic analysis is the gold standard for diagnosis. Genetic counseling and a multidisciplinary approach are the mainstays of treatment.
金德勒综合征是一种罕见的常染色体隐性遗传性皮肤病。它是由含FERM结构域的亲联蛋白-1（FERMT1）发生突变引起的，该突变导致亲联蛋白-1功能丧失，而亲联蛋白-1在角质形成细胞的黏附、极化、增殖和迁移中发挥作用。其特征为皮肤水疱、光敏性、进行性皮肤异色症和皮肤萎缩。泌尿生殖系统黏膜通常会受到影响。泌尿系统表现包括尿道口狭窄、尿道狭窄、包茎和阴茎头瘢痕形成。皮肤活检及基因分析是诊断的金标准。遗传咨询和多学科方法是主要的治疗手段。
