[Multiple familial osteochondromatosis: presentation of a case]. / Osteocondromatosis múltiple familiar: a propósito de un caso.

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.

Osteocondromatosis múltiple familiar: a propósito de un caso / Multiple familial osteochondromatosis: presentation of a case

Los encondromas son tumores benignos de cartílago que crecen de forma lenta en las metáfisis de los huesos. Pueden ser lesiones solitarias o múltiples. Las encondromatosis comprenden un grupo heterogéneo de síndromes, difíciles de diferenciar, caracterizados por la presencia de múltiples encondromas que pueden llegar a producir malformaciones musculoesqueléticas (secundarias al acortamiento de extremidades), escoliosis, fracturas patológicas o seudoartrosis. La complicación más temida, el osteocondrosarcoma, puede acontecer hasta en el 25% de los pacientes. Exponemos el caso de un varón de 67 años, sin diagnósticos previos conocidos, que consulta por la aparición en cadera izquierda de una tumoración dolorosa y rápidamente deformante en el último año. Los antecedentes familiares y los datos clínico-radiológicos confirmaron el diagnóstico de osteocondromatosis múltiple familiar. Aun cuando la evolución clínica y los estudios de imagen hicieron sospechar una degeneración maligna (osteocondrosarcoma), esta no se confirmó en el estudio histopatológico de la pieza quirúrgica (AU)

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 (AU)