Dermochondrocorneal dystrophy (Francois syndrome) in a Mexican patient and literature review

Abstract

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.

Reticulohistiocytoses: a revision of the full spectrum

“…Finally, MR shows clinical similarities to François syndrome (dermochondrocorneal dystrophy), the latter being a very rare paediatric inherited disorder characterized by nodular juxtaarticular eruption, osteochondral deformities and corneal opacities. Histological and epidemiological data are sufficient to differentiate the two disorders …”