Diffuse Cystic Angiomatosis of bone OMIM

Description: Alternative titles; GORHAM-STOUT DISEASE; GSD OSTEOLYSIS, MASSIVE
Reid et al. (1989) described a family in which 12 persons in 4 generations had diffuse cystic angiomatosis of bone. The affected individuals were asymptomatic. Roentgenographically, the lesions occurred throughout the length of long bones and were osteolytic, with a thin sclerotic rim. The cortex of the bone was rarely involved and showed no periosteal reaction. Growth plate closure and remodeling were unaffected. With age, increasing sclerosis occurred, resulting in complete obliteration of the cyst with irregular reactive trabeculations. Five of the affected individuals were female. There were several examples of male-to-male transmission. Cystic angiomatosis of bone includes both hemangiomatosis and lymphangiomatosis. The disorder is different from monocentric massive osteolysis, which goes by the name of Gorham (Gorham and Stout, 1955) and appears to be nonmendelian.