Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G

Raffaella Zannolli; Sabrina Buoni; Francesca Macucci; Renato Scarinci; Massimo Viviano; Alessandra Orsi; Giovanni de Aloe; Michele Fimiani; Luca Volterrani; Maria M de Santi; Clelia Miracco; Michele Zappella; Joseph Hayek

doi:10.1016/j.braindev.2006.11.004

Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G

Brain Dev. 2007 Jul;29(6):373-6. doi: 10.1016/j.braindev.2006.11.004. Epub 2006 Dec 14.

Authors

Raffaella Zannolli¹, Sabrina Buoni, Francesca Macucci, Renato Scarinci, Massimo Viviano, Alessandra Orsi, Giovanni de Aloe, Michele Fimiani, Luca Volterrani, Maria M de Santi, Clelia Miracco, Michele Zappella, Joseph Hayek

Affiliation

¹ Department of Pediatrics, Section of Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it

PMID: 17174051
DOI: 10.1016/j.braindev.2006.11.004

Abstract

We report a unique combination of symptoms in a case of Kabuki syndrome (KS), a multiple malformation/mental retardation syndrome that has a prevalence of 1:32,000 to 1:86,000. The patient was a mentally delayed 12-year-old male with trichrome vitiligo, ectodermal defect, and hypogammaglobulinemia A and G. This unique combination of signs, described here for the first time, indicates that KS comprises multiple deficits that affect not only the brain, but ectoderm-derived structures and the immune system as well. Our report may provide important clues for understanding the pathogenesis of the KS.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / pathology
Abnormalities, Multiple / physiopathology*
Agammaglobulinemia / complications*
Child
Ectodermal Dysplasia / complications*
Humans
IgA Deficiency*
IgG Deficiency*
Intellectual Disability / complications*
Intellectual Disability / pathology
Male
Vitiligo / complications*
Vitiligo / pathology