Kabuki syndrome: a new case associated with Becker nevus.

TitleKabuki syndrome: a new case associated with Becker nevus.
Publication TypeJournal Article
Year of Publication2011
AuthorsCuesta L, Betlloch I, Toledo F, Latorre N, Monteagudo AF
JournalDermatology online journal
Volume17
Issue8
Pagination1
Date Published2011
ISSN1087-2108
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 faciesi (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, renali, 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 nevusi - a condition not previously associated with this syndrome. The usefulness of dermoscopy in studying alterations in the dermatoglyphic patterns is also discussed.

Alternate JournalDermatol. Online J.
Citation Key941
PubMed ID21906481