ヤマキ　タカシ   八巻　隆    所属   医学部 医学科（附属足立医療センター）    職種   教授
論文種別	原著
言語種別	英語
査読の有無	査読あり
表題	Multiple Pilomatricomas in Kabuki Syndrome.
掲載誌名	正式名：Pediatric dermatology 略　 称：Pediatr Dermatol ISSNコード：1525-1470(Electronic)0736-8046(Linking)
巻・号・頁	30(2),pp.253-255
著者・共著者	Hamahata Atsumori, Kamei Wataru, Ishikawa Masashi, Konoeda Hisato, Yamaki Takashi, Sakurai Hiroyuki
発行年月	2013/04
概要	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.
DOI	10.1111/j.1525-1470.2011.01718.x
文献番号	22304445