A case of membranous lipodystrophy with skeletal involvement

It is the purpose of this study to describe the orthopaedic features of Nasu disease or membranous lipodystrophy based on the observation of a rare clinical case of the pathology and on a review of the international literature. The case described is probably the first to have been observed in Italy, and may be added to the 80 cases currently known to exist the world over. The disease affects young adults and involves pathologic fractures, as well as psychological and neurological disorders. It is currently of unknown etiology and its course is progressive until the death of the subject. The radiological aspect shows metaepiphyseal polycystic lesions of the long bones, with a tendency to expand, and involvement of the cortex. Causal treatment of the disease is currently not possible. The authors emphasize that differential diagnosis involving other diseases having a similar anatomopathological picture may be obtained, and they propose several suggestions for orthopaedic treatment based on their own experience.