Hamahata Atsumori, Kamei Wataru, Ishikawa Masashi, Konoeda Hisato, Yamaki Takashi, Sakurai Hiroyuki
Department of Plastic and Reconstructive Surgery, Tokyo Women's Medical University, Tokyo.
Pediatr Dermatol. 2013 Mar-Apr;30(2):253-5. doi: 10.1111/j.1525-1470.2011.01718.x. Epub 2012 Feb 3.
Pilomatricoma is a benign tumor of the hair matrix cell that presents predominantly in childhood. Although pilomatricoma occurs spontaneously, multiple pilomatricomas have been described in association with several inherited syndromes. We report on a 28-year-old man with Kabuki syndrome with three pilomatricomas in his head and thigh. Although several reports describe multiple pilomatricomas associated with Turner syndrome, there are no reports of multiple pilomatricomas combined with Kabuki syndrome. Ectodermal abnormalities such as hair abnormality and hirsutism are symptoms of Kabuki syndrome, and pilomatricomas are frequently associated with the mutations of beta-catenin in hair follicle development. The predisposition of pilomatricomas may be not merely a coincidental finding, but an added association with Kabuki syndrome.
毛母质瘤是一种主要发生于儿童期的毛母质细胞良性肿瘤。尽管毛母质瘤多为自发出现，但已有报道称多种毛母质瘤与几种遗传性综合征相关。我们报告了一名28岁患有歌舞伎综合征的男性，其头部和大腿有三处毛母质瘤。虽然有几篇报道描述了与特纳综合征相关的多发性毛母质瘤，但尚无关于多发性毛母质瘤合并歌舞伎综合征的报道。诸如毛发异常和多毛症等外胚层异常是歌舞伎综合征的症状，并且毛母质瘤常与毛囊发育中β-连环蛋白的突变相关。毛母质瘤的易发性可能不仅仅是一个偶然发现，而是与歌舞伎综合征的额外关联。
