title: 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.
authors.affiliation: Hospital Regional de Alta Especialidad del Bajio, San Carlos la Roncha, Leon, Guanajuato, Mexico.|Department of Genetics, Instituto Nacional de Rehabilitación, Mexico City, Mexico.
authors.forename: Alberto
authors.initials: A
authors.lastname: Hidalgo-Bravo
authors.affiliation: Hospital Regional de Alta Especialidad del Bajio, San Carlos la Roncha, Leon, Guanajuato, Mexico.
authors.forename: Maria L
authors.initials: ML
authors.lastname: Acosta-Nieto
authors.affiliation: Hospital Regional de Alta Especialidad del Bajio, San Carlos la Roncha, Leon, Guanajuato, Mexico.
authors.forename: Monica I
authors.initials: MI
authors.lastname: Normendez-Martinez
authors.affiliation: Hospital Regional de Alta Especialidad del Bajio, San Carlos la Roncha, Leon, Guanajuato, Mexico.
authors.forename: Nubia F
authors.initials: NF
authors.lastname: Rodriguez-Gonzalez
authors.affiliation: Hospital Regional de Alta Especialidad del Bajio, San Carlos la Roncha, Leon, Guanajuato, Mexico.
authors.forename: Francisco
authors.initials: F
authors.lastname: Paz-Gomez
authors.affiliation: Department of Genetics, Instituto Nacional de Rehabilitación, Mexico City, Mexico.
authors.forename: Margarita
authors.initials: M
authors.lastname: Valdes-Flores
authors.affiliation: Department of Genetics, Instituto Nacional de Rehabilitación, Mexico City, Mexico.
authors.forename: Mirelle
authors.initials: M
authors.lastname: Kramis-Hollands
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003317:Corneal Dystrophies, Hereditary / Q000000981:diagnostic imaging* / Q000473:pathology*; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging* / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D008800:Mexico; D011379:Prognosis; D011859:Radiography; D013577:Syndrome
keywords: Dermochondrocorneal; Francois; dystrophy