八巻　隆    Department   School of Medicine(Tokyo Women's Medical University Adachi Medical Center), School of Medicine    Position   Professor
Article types	Original article
Language	English
Peer review	Peer reviewed
Title	Multiple Pilomatricomas in Kabuki Syndrome.
Journal	Formal name：Pediatric dermatology Abbreviation：Pediatr Dermatol ISSN code：1525-1470(Electronic)0736-8046(Linking)
Volume, Issue, Page	30(2),pp.253-255
Author and coauthor	Hamahata Atsumori, Kamei Wataru, Ishikawa Masashi, Konoeda Hisato, Yamaki Takashi, Sakurai Hiroyuki
Publication date	2013/04
Summary	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
Document No.	22304445