Clinical and imaging features of Gorham disease:a report of eleven cases and review of literature / 中华放射学杂志

ABSTRACT

Objective To evaluate the clinical and radiological features of Gorham disease. Methods Clinical and radiological features of Gorham disease were retrospectively analyzed by reviewing the eleven cases from our hospital and the cases reported in the domestic literature in the past fifty years. The diagnoses of all these 11 patients were in accordance with the diagnostic criteria established by Wells and Gray et al. All patients had X?ray plain film, four had CT scan and five had MR examination, with one had additional contrast?enhanced MR examination. Results There were 7 males and 4 females, age ranged from 16 to 66 years with a median age of 32 years. There were six cases involving hand, one involving ulnar and radial bones, one involving acetabulum and three involving jaw bones. The main clinical manifestations were pain, swelling, limited activity, and focal muscular atrophy occurred in 7 cases. On X?ray plain films, the affected bone became thin and the cortexes were not smooth and became coarse in 6 cases. Local lucent area was seen in 5 cases and massive bone absorption was seen in 6 cases. The residual bones showed a tapering appearance in 1 case. Pathological fracture occurred in 1 case. On CT scans, the affected bone became thin and the cortexes became coarse in 4 cases. Local lucent area was seen in 1 case. Massive bone absorption was seen in 3 cases. The adjacent muscular atrophy and widened intermuscular fat space occurred in 2 cases (atrophic bone absorption). On MRI, normal signal intensity of bone marrow disappeared and demonstrated low signal on T1WI and high signal on T2WI. The signal could be homogeneous or heterogeneous. There were widespread strip and patchy high signal areas in the soft tissue around the absorption areas in 4 cases, which resembled the edema?like signal. In 1 case, there was irregular widespread soft tissue mass around the absorption areas with heterogeneous high signal on T2WI. The adjacent muscle showed atrophy, and the intermuscular fat space became wide. There were a total of 92 cases reported cases in the literature including our 11 cases. There were 63 males and 29 females. The onset age ranged from 10 to 40 years in 66/92(72%)cases. The lesion affected one bone in 24 cases, affected two or more bones in 68 cases, out of which 9 cases had single center distribution, 59 cases had multiple centers distribution. Pectoral girdle, pelvis, maxillofacial bones, and hand were the most common sites of involvement in decreasing order. Forty three cases had muscle atrophy and 8 cases had soft tissue mass. Conclusion Gorham disease should be considered when atrophic bone absorption in one bone or continuous bones occurs that does not match clinical symptoms, with soft tissue atrophy but no bone sclerosis or periosteal reaction in the osteolytic areas.