title: [Differential diagnosis of multiple hereditary exostosis: presentation of a clinical case with secondary chondrosarcoma and literature review].
abstract: Enchondromatoses include a heterogeneous group of congenital syndromes characterized by the presence of multiple enchondromas associated with musculo-skeletal malformations secondary to limb shortening, scoliosis, pathological fractures and pseudoarthrosis. The main complication of enchondromas is their malignant transformation to secondary chondrosarcomas, which may occur in up to 25% of cases. The multiple enchondromatosis syndromes have many clinical similarities and the differential diagnosis is therefore difficult to make. We present the clinical case of a 38-year-old patient with a diagnosis of multiple familial enchondromatosis who developed a pelvic chondrosarcoma that was treated with external hemipelvectomy. We reviewed the literature concerning the specific aspects of Mafucci, Oilier and multiple familial enchondromatosis syndromes.
authors.affiliation: Instituto Nacional de Cancerología, México. miprotocolo@yahoo.com.mx
authors.forename: J A
authors.initials: JA
authors.lastname: Sansón-RíoFrío
authors.forename: Navarro
authors.initials: N
authors.lastname: Santiesteban
authors.forename: R I
authors.initials: RI
authors.lastname: Bahena
authors.forename: V V
authors.initials: VV
authors.lastname: Villavicencio
authors.forename: H
authors.initials: H
authors.lastname: Martínez-Said
authors.forename: R A
authors.initials: RA
authors.lastname: Padilla
authors.forename: H M
authors.initials: HM
authors.lastname: Cuellar
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002813:Chondrosarcoma / Q000175:diagnosis / Q000601:surgery; D003937:Diagnosis, Differential; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000175:diagnosis; D005266:Femoral Neoplasms / Q000175:diagnosis / Q000601:surgery; D006428:Hemipelvectomy / Q000379:methods; D006621:Hip Joint; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010386:Pelvic Neoplasms / Q000175:diagnosis; D011379:Prognosis; D012446:Sacroiliac Joint; D012600:Scoliosis / Q000175:diagnosis; D014057:Tomography, X-Ray Computed