Kabuki syndrome: a new case associated with Becker nevus.

TítuloKabuki syndrome: a new case associated with Becker nevus.
Tipo de PublicaciónJournal Article
Nuevas Publicaciones2011
AutoresCuesta L, Betlloch I, Toledo F, Latorre N, Monteagudo AF
JournalDermatology online journal
Volumen17
Ejemplar8
Pagination1
Año de publicación2011
ISBN1087-2108
Resumen

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