Cystic Angiomatosis Of Bone, Diffuse

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.

Devlin et al. (1996) studied a patient with Gorham-Stout disease (GSD) who had massive resorption of his mandible, which extended to the maxilla, zygoma, right parietal region, and cranium. They tested the effects of the patient's serum, sampled both early in the course of treatment and later after the osteolysis was 'stabilized.' It was 'stabilized' on the formation of osteoclast-like multinuclear cells (MNCs) in cultures of normal human marrow. The serum in 10% by volume dilution markedly increased the number of MNCs formed in cultures of normal serum as well as stimulated the formation of resorption pits by MNCs on dentine slices. Serum collected after further therapy did not enhance the number of MNCs formed in marrow cultures compared to those formed in normal serum. Elevated levels of IL6 (147620) were detected in the early GSD serum that were 7 times the upper limit of the normal range, and after further treatment, IL6 levels fell to one quarter of the pretreatment value. The levels of IL-1-beta (147720), tumor necrosis factor-alpha (191190), transforming growth factor-alpha (190170), PTH (168450), and PTH-related peptide (168470) were not increased in pretreatment serum. Moreover, the addition of neutralizing antibodies to IL6 to the normal human bone marrow cultures effectively blocked the increase in multinucleated cell formation induced by active GSD serum. In this patient mandibular osteolysis was said to have followed a blow to the chin at age 9 years. The patient was initially treated for suspected osteomyelitis, but there was no response to antibiotics. At the age of 10 years, biopsy of the right zygoma yielded findings consistent with the diagnosis of GSD. Daily subcutaneous injections of calcitonin resulted in a decline in the rate of bone resorption. The patient then received infusions of pamidronate every 3-4 months, and there was no further enlargement of the lytic lesions. Because of deformation of the softened skull base, he was placed on cervical traction with halo apparatus, and radiation therapy was administered. The first serum specimen was obtained after the calcitonin therapy and initial pamidronate treatments. The second specimen was obtained about 9 months later, after additional courses of pamidronate and the radiation therapy. A year after radiation therapy, a successful cervical fusion was performed.