Kabuki syndrome with trichrome vitiligo, ectodermal defect and hypogammaglobulinemia A and G.
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.
Zannolli
Raffaella
R
Department of Pediatrics, Section of Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it
Buoni
Sabrina
S
Macucci
Francesca
F
Scarinci
Renato
R
Viviano
Massimo
M
Orsi
Alessandra
A
de Aloe
Giovanni
G
Fimiani
Michele
M
Volterrani
Luca
L
de Santi
Maria M
MM
Miracco
Clelia
C
Zappella
Michele
M
Hayek
Joseph
J
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