Pilomatricoma Associated with Kabuki Syndrome

descriptionPublicationkeyboard_double_arrow_right Article 25 Oct 2016 English Publisher:WileyJournal:Pediatric Dermatology, volume 34 (issn: 0736-8046, eissn: 1525-1470,

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Authors: Fanny-Emmanuelle, Bernier; Ariane, Schreiber; Jérome, Coulombe; Afshin, Hatami; Danielle, Marcoux;

doi: 10.1111/pde.13014

pmid: 27778401

Pilomatricoma Associated with Kabuki Syndrome

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Abstract

AbstractWe report three cases of pilomatricomas associated with Kabuki syndrome (KS), supporting the hypothesis proposed of an association between pilomatricomas and KS and suggesting a noncoincidental association, because the Wnt pathway mutations involved could affect both morphogenesis and tumorigenesis in these patients.

Related Organizations

University of Montreal
Canada
Centre Hospitalier Universitaire Sainte-Justine
Canada
Université Laval
Canada

Keywords

Skin Neoplasms, Pilomatrixoma, Hematologic Diseases, Neoplasm Proteins, DNA-Binding Proteins, Vestibular Diseases, Child, Preschool, Face, Mutation, Humans, Abnormalities, Multiple, Female, Child, Hair Diseases

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