Cutis laxa in Kabuki make-up syndrome.

TitleCutis laxa in Kabuki make-up syndrome.
Publication TypeJournal Article
Year of Publication2005
AuthorsVaccaro M, Salpietro DC, Briuglia S, Merlino MV, Guarneri F, Dallapiccola B
JournalJournal of the American Academy of Dermatology
Volume53
Issue5 Suppl 1
PaginationS247-51
Date Published2005 Nov
Abstract

Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenitali anomalies/mental retardation syndrome of unknown cause, first described independently by Niikawa and Kuroki. It is characterized by a peculiar facial appearance, mild to moderate mental retardation, skeletal abnormality, joint laxity, short stature, and unusual dermatoglyphic patterns. Several additional malformations (eg, cleft palatei), cardiovascular defects, genitourinary and gastrointestinal tract anomalies, otologic and ophthalmologic abnormalities, and recurrent infections are also frequently present. It is mostly sporadic, although some familial cases have been reported. Inheritance is thought to be autosomal dominant or X-linked recessive; several chromosomal abnormalities have been found, but none of them seems to be specific to KMS. The fact that the majority of patients are sporadic and show a wide spectrum of clinical features rules out the hypothesis that KMS is a condition with a microdeletion involving several contiguous genesi. We recently observed an Italian boy with typical KMS associated with cutis laxa, which, to our knowledge, is an uncommon finding in KMS, never reported in more than 350 KMS cases previously described in the literature.

Alternate JournalJ. Am. Acad. Dermatol.
Citation Key16227101