Cutaneous and gastrointestinal tract hemangiomas associated with disappearing bones: Gorham syndrome

A 42-year-old woman presented with a 15-year history of increasingly severe headaches. Since birth, she had hemangiomas involving predominantly her sacrum and rectum that were associated with episodes of rectal and back pain and hematochezia. During adolescence, she had multiple surgical procedures to repair the hemangiomas. Her family had no history of similar disease. Parietal headaches developed at age 27 years. Radiographic evaluation revealed destructive lesions of the cranium, the right scapula, the symphysis pubis, and the sacroiliac joint. Her headaches were managed conservatively with pain medication and observation. When her headaches steadily worsened, she was referred to our institution for another opinion. On physical examination, her skull appeared flattened bilaterally (Fig. 1) and was soft to palpation. Multiple, flesh-colored skin polyps involving the sacral areas were noted (Fig. 2); these were 3-4 cm in diameter, soft, and compressible. Figure 1. Patient’s skull appears flattened bilaterally with an asymmetric contour Download figure to PowerPoint Figure 2. Hemangiomas are present in the sacral area Download figure to PowerPoint Radiographic examination of the skull showed extensive bony defects involving the parietal areas bilaterally and extending into the right occipital region (Fig. 3). A review of the results of the patient's previous radiographic studies beginning in 1982, including computed tomographic scans and magnetic resonance imaging, demonstrated lytic lesions consistent with osseous hemangiomas, with significant progression in the size and extent of the lytic areas in 1997 and 1998. A sheath of soft tissue was noted at the sites of the former bones. The studies showed mixed sclerotic and lytic lesions involving the right humerus and multiple bony lesions of the left superior and inferior pubic rami with associated destruction at the pubic symphysis. Figure 3. Coronal computed tomographic scan through the level of the temporomandibular joint shows bony defects Download figure to PowerPoint Extended upper gastrointestinal tract endoscopy showed exophytic jejunal hemangiomas and a gastric hemangioma. Colonoscopy displayed no evidence of vascular malformation. Laboratory tests showed mild normocytic anemia. Results of other laboratory investigations were unremarkable. The patient refused a skin biopsy. The headaches were believed to be related to the mass effect of the enlarging hemangiomas of the skull. Because a trial of valproic acid gave only minimal relief, the decision was made to use radiotherapy for the involved bones (cranium, pelvis, and humerus). A total of 34 Gy was delivered in 17 fractions. The patient reported an improvement in her headaches, which is sustained a year later. Follow-up radiographic studies at the end of treatment showed no progression of the osseous hemangiomas.