Tags

Type your tag names separated by a space and hit enter

Cutis laxa in Kabuki make-up syndrome.
J Am Acad Dermatol. 2005 Nov; 53(5 Suppl 1):S247-51.JA

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.

Authors+Show Affiliations

Institute of Dermatology, University of Messina, Messina, Italy. Mario.Vaccaro@unime.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

16227101

Citation

Vaccaro, Mario, et al. "Cutis Laxa in Kabuki Make-up Syndrome." Journal of the American Academy of Dermatology, vol. 53, no. 5 Suppl 1, 2005, pp. S247-51.
Vaccaro M, Salpietro DC, Briuglia S, et al. Cutis laxa in Kabuki make-up syndrome. J Am Acad Dermatol. 2005;53(5 Suppl 1):S247-51.
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 1), S247-51.
Vaccaro M, et al. Cutis Laxa in Kabuki Make-up Syndrome. J Am Acad Dermatol. 2005;53(5 Suppl 1):S247-51. PubMed PMID: 16227101.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cutis laxa in Kabuki make-up syndrome. AU - Vaccaro,Mario, AU - Salpietro,Damiano Carmelo, AU - Briuglia,Silvana, AU - Merlino,Maria Valeria, AU - Guarneri,Fabrizio, AU - Dallapiccola,Bruno, PY - 2004/09/09/received PY - 2005/02/02/revised PY - 2005/02/07/accepted PY - 2005/10/18/pubmed PY - 2006/5/9/medline PY - 2005/10/18/entrez SP - S247 EP - 51 JF - Journal of the American Academy of Dermatology JO - J. Am. Acad. Dermatol. VL - 53 IS - 5 Suppl 1 N2 - 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. SN - 1097-6787 UR - https://www.unboundmedicine.com/medline/citation/16227101/Cutis_laxa_in_Kabuki_make_up_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0190-9622(05)00674-2 DB - PRIME DP - Unbound Medicine ER -