Multiple Pilomatricomas in Kabuki Syndrome.

TitleMultiple Pilomatricomas in Kabuki Syndrome.
Publication TypeJournal Article
Year of Publication2012
AuthorsHamahata A, Kamei W, Ishikawa M, Konoeda H, Yamaki T, Sakurai H
JournalPediatr Dermatol
Date Published2012 Feb 3
Abstract  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.
Citation Key1105
PubMed ID22304445