[Tricho-rhino-phalangeal syndrome: first Brazilian case].
Thrico-rhino-falangeal syndrome is a rare genetic disease characterized by the presence of typical alterations with a long, bulbous nose, hair alterations, a long flat philtrum, and one-shaped epiphyses of the phalanges. We describe herein the first Brazilian case of a 24-year-old woman with thrico-rhino--falangeal syndrome type I. Physical examination demonstrated typical nose and hair abnormalities, and one-shaped epiphyses of the phalanges, and the genetic study confirmed the diagnosis. Thrico-rhino-falangeal syndrome is characterized by musculoskeletal alterations that at the first view may simulate juvenile idiopathic arthritis. These musculoskeletal deformities could imply the differential diagnosis with rheumatic diseases.
Freire de Carvalho
Jozélio
J
Disciplina de Reumatologia da Faculdade de Medicina da Universidade de São Paulo. jotafc@gmail.com
D001938:Brazil; D005260:Female; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000175:diagnosis*; D055815:Young Adult