Familial Diffuse Cystic Angiomatosis of Bone

Abstract

Twelve cases of diffuse cystic angiomatosis of bone are presented in a family over four generations. The inheritance pattern of the disease appears to be one of an autosomal dominant distribution with no skipped generations and equal sex distribution. Individuals affected are clinically asymptomatic. All blood parameters are normal. Roentgenographically, the lesion occurs throughout the length of long bones and is osteolytic, with a thin sclerotic rim. The cortex of the bone is rarely involved and shows no periosteal reaction. Growth plate closure and remodeling are unaffected. The natural history is of increasing sclerosis, resulting in complete obliteration of the cyst with irregular reactive trabeculations. Although it resembles more serious conditions, the condition can be diagnosed clinically and radiographically, making invasive tests and treatment unnecessary.