RESUMO
Osteopoikilosis is an infrequent sclerotic bone dysplasia with discrete spherical areas of increased bone density. It has an autosomal, dominant inheritance with variable penetrance. It a diagnosed by the observation of characteristic images on x-ray films. Despite its lack of pathological importance, it must be distinguished from osteoblastic bone metastases, tuberose sclerosis, mastocytosis or sarcoidosis. We report a 23 years old male who presented a right ankle sprain. X-ray films showed important lesions in the trabecular bone of the tarsus, metatarsus and phalanges, as numerous small foci of osteosclerosis. The study was complemented with a pelvis, femur and a hand radiological study with similar findings. These findings led to the diagnosis of osteopoikilosis. Among his family members, x-ray films showed that the mother also carried the disease.
Assuntos
Humanos , Masculino , Adulto , Osteopecilose/congênito , OsteopeciloseRESUMO
Se presentan dos casos de síndrome de Buschke-Ollendorf (SBO) en una familia; la madre con una forma completa del síndrome y el hijo con una forma incompleta, sin osteopoiquilosis. Se realiza la descripción clínica de la entidad, de su histopatología y de los diagnósticos diferenciales. Motiva esta presentación el ser un síndrome poco frecuente