Mizutani Hiromi, Masuda Koji, Nakamura Naomi, Takenaka Hideya, Tsuruta Daisuke, Katoh Norito
Department of Dermatology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Fukuoka, Japan.
Case Rep Dermatol. 2012 May;4(2):133-8. doi: 10.1159/000339619. Epub 2012 Jun 19.
Kindler syndrome is a rare autosomal recessive genodermatosis characterized by trauma-induced acral blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. Other clinical features include chronic erosive gingivitis, dysphagia, esophageal and urethral strictures, ectropion, and an increased risk of mucocutaneous squamous cell carcinoma. We describe a patient with Kindler syndrome associated with squamous cell carcinoma of the skin and larynx. He had squamous cell carcinoma on his left knee with simultaneous unresectable laryngeal carcinoma at the age of 43 years. The squamous cell carcinoma on his knee was excised and the laryngeal carcinoma was treated with radiation therapy. Although pathophysiology of Kindler syndrome and its frequency of association with cancer are still not fully elucidated, we speculate that long-term erosion and regeneration of mucosal and cutaneous surfaces may have induced squamous cell carcinoma on the patient's knee and larynx.
金德勒综合征是一种罕见的常染色体隐性遗传性皮肤病,其特征为在婴儿期和儿童期出现创伤诱发的肢端水疱、光敏性以及进行性皮肤异色症。其他临床特征包括慢性糜烂性牙龈炎、吞咽困难、食管和尿道狭窄、睑外翻以及皮肤黏膜鳞状细胞癌风险增加。我们描述了一名患有金德勒综合征且伴有皮肤和喉鳞状细胞癌的患者。他在43岁时左膝出现鳞状细胞癌,同时患有无法切除的喉癌。其膝部的鳞状细胞癌被切除,喉癌接受了放射治疗。尽管金德勒综合征的病理生理学及其与癌症的关联频率仍未完全阐明,但我们推测黏膜和皮肤表面的长期糜烂和再生可能诱发了该患者膝部和喉部的鳞状细胞癌。