title: [Multiple familial osteochondromatosis: presentation of a case].
abstract: Enchondromas are benign cartilage tumours that grow slowly in the bone metaphysis. They may involve solitary or multiple lesions. Enchondromatoses include a heterogeneous group of hardly distinguishable syndromes characterised by the presence of multiple enchondromas that may cause musculoskeletal malformations (secondary to limb shortening), scoliosis, pathological fractures, or pseudoarthrosis. The most dreaded complication, osteochondrosarcoma, occurs in up to 25% of patients. We present the case of a 67-year-old male with no previous diagnosis, requiring attention due to the appearance of a painful tumour in his left hip which degenerated rapidly over the past year. Family history and clinical-radiological data confirmed the diagnosis of Multiple Familial Osteochondromatosis. Although clinical evolution and imaging led to suspect a malignant degeneration (osteochondrosarcoma), this was not confirmed by the histopathological study of the surgical sample.
authors.affiliation: Unidad de Atención Primaria Os Mallos, Servicio Galego de Saúde, A Coruña, España. maria.garcia.lamazares@sergas.es
authors.forename: M
authors.initials: M
authors.lastname: García-Lamazares
authors.forename: E
authors.initials: E
authors.lastname: Someso-Orosa
authors.forename: A
authors.initials: A
authors.lastname: Zamora-Casal
authors.forename: E
authors.initials: E
authors.lastname: Rodríguez-Moldes
mesh_terms: D000368:Aged; D004687:Enchondromatosis / Q000175:diagnosis*; D006801:Humans; D008297:Male