PDF(Pubmed)
Abstract：
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.
摘要：
Kindler综合征是一种罕见的常染色体隐性皮肤病。它是由含有kindlin-1（FERMT1）的FERM结构域突变导致kindlin-1功能丧失的结果，kindlin-1在角质形成细胞粘附中起作用，极化，扩散,和移民。它的特点是皮肤起泡，光敏性,进行性真皮病,皮肤萎缩.粘膜泌尿生殖系统通常受到影响。泌尿系统表现包括胃部狭窄，尿道狭窄,包茎,和龟头的疤痕。带有遗传分析的皮肤活检是诊断的金标准。遗传咨询和多学科方法是治疗的支柱。
