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Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited
Author(s) -
Karagianni Paraskevi,
Lambropoulos Vassilios,
Stergidou Dorothea,
Fryssira Helena,
Chatziioannidis Ilias,
Spyridakis Ioannis
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37584
Subject(s) - kabuki syndrome , kabuki , malignancy , medicine , dermatology , pathology , pediatrics , art , visual arts
Kabuki syndrome is a genetic condition characterized by distinctive facial phenotype, mental retardation, and internal organ malformations. Mutations of the epigenetic genes KMT2D and KDM6A cause dysregulation of certain developmental genes and account for the multiple congenital anomalies of the syndrome. Eight cases of malignancies have been reported in young patients with Kabuki syndrome although a causative association to the syndrome has not been established. We report a case of a 12‐year‐old girl with Kabuki syndrome who developed a tumor on the right side of her neck. A relapsing tumor 19 months after initial excision, proved to be giant cell fibroblastoma. Τhis is the first report of giant cell fibroblastoma ‐a rare tumor of childhood‐ in a patient with Kabuki syndrome. © 2016 Wiley Periodicals, Inc.