RESUMO

Dermochondrocorneal Dystrophy (OMIM 221800) is a very rare disease first described by Francois in 1949. It is characterized by the appearance of skin nodules, osteochondral deformities, and corneal opacities during childhood. Only a few cases have been reported. There is uncertainty about the inheritance pattern and no gene or genes have been associated to this disease. We report a patient from Mexican mestizo origin with the classic manifestations of Dermochondrocorneal Dystrophy. We perform a multidisciplinary assessment in order to contribute to the knowledge of the clinical presentation of this uncommon condition. Among the few documented patients, this is the third patient of Mexican ancestry reported with this syndrome.

Assuntos

Distrofias Hereditárias da Córnea/diagnóstico por imagem , Distrofias Hereditárias da Córnea/patologia , Exostose Múltipla Hereditária/diagnóstico por imagem , Exostose Múltipla Hereditária/patologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , México , Prognóstico , Radiografia , Síndrome