Servicio de Dermatología, Instituto Nacional de Salud del Niño, Breña, Lima, Perú.
Servicio de Dermatología, Hospital Vitarte MINSA, Lima, Perú.
Actas Dermosifiliogr (Engl Ed). 2020 Nov;111(9):775-780. doi: 10.1016/j.ad.2019.04.013. Epub 2020 Aug 27.
Kindler syndrome is a very rare form of bullous epidermolysis. It is a hereditary condition caused by a mutation in the FERMT1 gene that encodes the protein kindlin-1. It is clinically characterized by trauma-induced blistering, diffuse skin atrophy, poikiloderma, pseudosyndactyly, and photosensitivity. The most common mucosal manifestations are conjunctivitis, ectropion, hemorrhagic gingivitis, periodontal disease, premature tooth loss, and severe colitis. We present the first 4 cases of Kindler syndrome diagnosed at the Instituto Nacional de Salud del Niño in Lima, Peru. These cases highlight the unique clinical presentation and multiple manifestations of this disease and show how a multidisciplinary management approach kept symptoms under control and significantly improved patient quality of life.
Kindler 综合征是一种非常罕见的大疱性表皮松解症。它是一种遗传性疾病，由 FERMT1 基因突变引起，该基因编码蛋白 kindlin-1。临床上表现为创伤诱导性水疱、弥漫性皮肤萎缩、异色性、假性并指畸形和光敏感性。最常见的黏膜表现为结膜炎、睑外翻、出血性牙龈炎、牙周病、过早牙齿脱落和严重结肠炎。我们介绍了在秘鲁利马的国家儿童健康研究所诊断出的首例 4 例 Kindler 综合征。这些病例突出了该疾病的独特临床表现和多种表现，并展示了多学科管理方法如何控制症状并显著提高患者的生活质量。
