A 15-year-old boy with Rubinstein-Taybi syndrome associated with severe congenital malalignment of the toenails.
Balci S, Bostanci S, Ekmekci P, Cebeci I, Bokesoy I, Bartsch O, Gurgey E.
Department of Clinical Genetics, Hacettepe University, Ihsan Dogramaci Children's Hospital, Turkey. firstname.lastname@example.org
Rubinstein-Taybi syndrome (RTS) is a well-known disorder characterized by growth and mental retardation, typical facial features, short stature, and broad thumbs and toes. Although several cutaneous manifestations are observed in these patients, they are not diagnostic and are usually considered to be coincidental. Congenital malalignment of the great toenails is a very rare disorder that is characterized by lateral deviation of the nail plate along its longitudinal axis. The nail plate grows into the lateral nail fold resulting in pain and infection. It is usually present at birth or begins in early childhood. We report a patient with characteristic manifestations of RTS and congenital malalignment of the great toenails. The association of these two entities has not been reported previously.
Source: Pediatr Dermatol. 2004 Jan-Feb;21(1):44-7.
PMID: 14871325 [PubMed - in process]