[Differential diagnosis of multiple hereditary exostosis: presentation of a clinical case with secondary chondrosarcoma and literature review].
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.
Sansón-RíoFrío
J A
JA
Instituto Nacional de Cancerología, México. miprotocolo@yahoo.com.mx
Santiesteban
Navarro
N
Bahena
R I
RI
Villavicencio
V V
VV
Martínez-Said
H
H
Padilla
R A
RA
Cuellar
H M
HM
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