title: Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.
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.
authors.affiliation: Department of Pediatrics, Section of Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it
authors.forename: Raffaella
authors.initials: R
authors.lastname: Zannolli
authors.forename: Sabrina
authors.initials: S
authors.lastname: Buoni
authors.forename: Francesca
authors.initials: F
authors.lastname: Macucci
authors.forename: Renato
authors.initials: R
authors.lastname: Scarinci
authors.forename: Massimo
authors.initials: M
authors.lastname: Viviano
authors.forename: Alessandra
authors.initials: A
authors.lastname: Orsi
authors.forename: Giovanni
authors.initials: G
authors.lastname: de Aloe
authors.forename: Michele
authors.initials: M
authors.lastname: Fimiani
authors.forename: Luca
authors.initials: L
authors.lastname: Volterrani
authors.forename: Maria M
authors.initials: MM
authors.lastname: de Santi
authors.forename: Clelia
authors.initials: C
authors.lastname: Miracco
authors.forename: Michele
authors.initials: M
authors.lastname: Zappella
authors.forename: Joseph
authors.initials: J
authors.lastname: Hayek
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology*; D000361:Agammaglobulinemia / Q000150:complications*; D002648:Child; D004476:Ectodermal Dysplasia / Q000150:complications*; D006801:Humans; D017098:IgA Deficiency; D017099:IgG Deficiency; D008607:Intellectual Disability / Q000150:complications* / Q000473:pathology; D008297:Male; D014820:Vitiligo / Q000150:complications* / Q000473:pathology