Cutis laxa in Kabuki make-up syndrome

Mario Vaccaro, Damiano Carmelo Salpietro, Silvana Briuglia, Maria Valeria Merlino, Fabrizio Guarneri, Bruno Dallapiccola

Research output: Contribution to journalArticle

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Abstract

Kabuki make-up syndrome (KMS; OMIM#147920) is a multiple congenital 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 palate), 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 genes. 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.

Original languageEnglish
JournalJournal of the American Academy of Dermatology
Volume53
Issue number5 SUPPL.
DOIs
Publication statusPublished - Nov 2005

Fingerprint

Cutis Laxa
Intellectual Disability
Genetic Databases
Joint Instability
Dermatoglyphics
Cleft Palate
Chromosome Aberrations
Gastrointestinal Tract
Infection
Genes
Kabuki syndrome

ASJC Scopus subject areas

  • Dermatology

Cite this

Vaccaro, M., Salpietro, D. C., Briuglia, S., Merlino, M. V., Guarneri, F., & Dallapiccola, B. (2005). Cutis laxa in Kabuki make-up syndrome. Journal of the American Academy of Dermatology, 53(5 SUPPL.). https://doi.org/10.1016/j.jaad.2005.02.007

Cutis laxa in Kabuki make-up syndrome. / Vaccaro, Mario; Salpietro, Damiano Carmelo; Briuglia, Silvana; Merlino, Maria Valeria; Guarneri, Fabrizio; Dallapiccola, Bruno.

In: Journal of the American Academy of Dermatology, Vol. 53, No. 5 SUPPL., 11.2005.

Research output: Contribution to journalArticle

Vaccaro, M, Salpietro, DC, Briuglia, S, Merlino, MV, Guarneri, F & Dallapiccola, B 2005, 'Cutis laxa in Kabuki make-up syndrome', Journal of the American Academy of Dermatology, vol. 53, no. 5 SUPPL.. https://doi.org/10.1016/j.jaad.2005.02.007
Vaccaro, Mario ; Salpietro, Damiano Carmelo ; Briuglia, Silvana ; Merlino, Maria Valeria ; Guarneri, Fabrizio ; Dallapiccola, Bruno. / Cutis laxa in Kabuki make-up syndrome. In: Journal of the American Academy of Dermatology. 2005 ; Vol. 53, No. 5 SUPPL.
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