Pilomatricoma Associated with Kabuki Syndrome

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

doi:10.1111/pde.13014

Pilomatricoma Associated with Kabuki Syndrome

Pediatr Dermatol. 2017 Jan;34(1):e26-e27. doi: 10.1111/pde.13014. Epub 2016 Oct 25.

Authors

Fanny-Emmanuelle Bernier¹, Ariane Schreiber², Jérome Coulombe¹, Afshin Hatami¹, Danielle Marcoux¹

Affiliations

¹ Division of Dermatology, Department of Paediatrics, Centre Hospitalier Universitaire Sainte-Justine, Université de Montreal, Montreal, Canada.
² Division of Dermatology, Department of Medicine, Laval University, Quebec, Canada.

PMID: 27778401
DOI: 10.1111/pde.13014

Abstract

We 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.

MeSH terms

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

Substances

DNA-Binding Proteins
KMT2D protein, human
Neoplasm Proteins

Supplementary concepts

Kabuki syndrome