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Kabuki syndrome: a new case associated with Becker nevus.
Dermatol Online J. 2011 Aug 15; 17(8):1.DO

Abstract

Kabuki syndrome or Kabuki makeup syndrome was first described in 1981 in Japan by two different groups of authors. These investigators described a group of patients sharing typical facial features, skeletal anomalies, mental retardation, short stature, and dermatoglyphic anomalies. The term Kabuki makeup syndrome was coined because the peculiar facial features of the patients were reminiscent of the Japanese Kabuki theater masks. In 1988, Niikawa et al, after studying 62 patients, proposed five diagnostic criteria for this disease: peculiar facies (in 100% of all patients), skeletal anomalies (92%), dermatoglyphic anomalies (93%), medium to moderate mental retardation (92%), and short stature (83% of all cases). In addition to these findings, a variety of anomalies have been associated with this syndrome - the most serious being cardiac, renal, and urogenital abnormalities. We present a case of Kabuki syndrome in a 6-year-old boy who, in addition to the various features typical of the disease, also exhibited a Becker nevus - a condition not previously associated with this syndrome. The usefulness of dermoscopy in studying alterations in the dermatoglyphic patterns is also discussed.

Authors+Show Affiliations

Department of Dermatology, Hospital General Universitario, Alicante, Spain. lcuestamontero@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

21906481

Citation

Cuesta, Laura, et al. "Kabuki Syndrome: a New Case Associated With Becker Nevus." Dermatology Online Journal, vol. 17, no. 8, 2011, p. 1.
Cuesta L, Betlloch I, Toledo F, et al. Kabuki syndrome: a new case associated with Becker nevus. Dermatol Online J. 2011;17(8):1.
Cuesta, L., Betlloch, I., Toledo, F., Latorre, N., & Monteagudo, A. F. (2011). Kabuki syndrome: a new case associated with Becker nevus. Dermatology Online Journal, 17(8), 1.
Cuesta L, et al. Kabuki Syndrome: a New Case Associated With Becker Nevus. Dermatol Online J. 2011 Aug 15;17(8):1. PubMed PMID: 21906481.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kabuki syndrome: a new case associated with Becker nevus. AU - Cuesta,Laura, AU - Betlloch,Isabel, AU - Toledo,Fernando, AU - Latorre,Nuria, AU - Monteagudo,Almudena Flavia, Y1 - 2011/08/15/ PY - 2011/9/13/entrez PY - 2011/9/13/pubmed PY - 2012/1/11/medline SP - 1 EP - 1 JF - Dermatology online journal JO - Dermatol Online J VL - 17 IS - 8 N2 - Kabuki syndrome or Kabuki makeup syndrome was first described in 1981 in Japan by two different groups of authors. These investigators described a group of patients sharing typical facial features, skeletal anomalies, mental retardation, short stature, and dermatoglyphic anomalies. The term Kabuki makeup syndrome was coined because the peculiar facial features of the patients were reminiscent of the Japanese Kabuki theater masks. In 1988, Niikawa et al, after studying 62 patients, proposed five diagnostic criteria for this disease: peculiar facies (in 100% of all patients), skeletal anomalies (92%), dermatoglyphic anomalies (93%), medium to moderate mental retardation (92%), and short stature (83% of all cases). In addition to these findings, a variety of anomalies have been associated with this syndrome - the most serious being cardiac, renal, and urogenital abnormalities. We present a case of Kabuki syndrome in a 6-year-old boy who, in addition to the various features typical of the disease, also exhibited a Becker nevus - a condition not previously associated with this syndrome. The usefulness of dermoscopy in studying alterations in the dermatoglyphic patterns is also discussed. SN - 1087-2108 UR - https://www.unboundmedicine.com/medline/citation/21906481/Kabuki_syndrome:_a_new_case_associated_with_Becker_nevus_ L2 - http://dermatology.cdlib.org/1708/1_csr/1_11-00164/article.html DB - PRIME DP - Unbound Medicine ER -