Multiple pilomatricomas in Kabuki syndrome.

[kabuki syndrome]

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 .