December 12, 2019
A 25-year-old man with decreased hearing, occasional visual problems, and a 6-month history of headaches in the area of a progressively worsening cranial defect along the left frontolateral skull
Gorham Disease (Vanishing Bone Disease)
- Background:
- Gorham disease is a rare disorder that usually affects patients younger than 40 years of age and is characterized by bony destruction and absorption secondary to intraosseous proliferation of hemangiomatous or lymphangiomatous tissue.
- There are 2 stages that can be differentiated:
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First stage: vascular proliferation in connective tissue, consistent with hemangiomatosis
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Second stage: fibrous tissue replacement of the absorbed bone without regeneration of osseous matrix
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- Clinical Presentation:
- Patients present with a progressively worsening defect (depression) of the skull.
- Additional symptoms can vary but may include pain, swelling, and pathologic fracture.
- Other commonly affected bone sites include the mandible, humerus, shoulder girdle, and pelvis.
- Key Diagnostic Features:
- Early CT findings may show lucent subcortical regions or areas of intramedullary radiolucency. The osseous destruction then progresses, resulting in dissolution and disappearance of a portion of the bone and no evidence for new bone formation.
- On MR imaging, the lesion demonstrates T1 hypointensity and T2 hyperintensity. After contrast administration, the lesion will show a reticular pattern of enhancement.
- Postcontrast, fat-suppressed T1-weighted images may be able to demonstrate the lesion’s vascular component.
- Differential Diagnoses:
- Metastases: often multiple, poorly defined lytic, sclerotic, or mixed lesions depending on the underlying malignancy; most commonly present as T1- and T2-hypointense lesions. Skull metastases usually demonstrate homogeneous enhancement after the administration of contrast.
- Osteomyelitis: presents with T1 intermediate-to-low signal and T2 bright bone marrow signal due to edema and evidence of periosteal reaction (osteoblastic reaction). After the administration of contrast, there is enhancement of the bone marrow and periosteum. Abscess formation and other adjacent soft-tissue collections are possible.
- Paget disease: may present with mixed lytic and sclerotic lesions (cotton wool appearance) or well-defined lucent lesions (osteoporosis circumscripta). Eventually, homogeneous enlargement of the cranial vault with thickening of the skull tables and the trabecular bone is seen. MRI features will depend on the stage of the disease, ranging from high T2 signal with strong enhancement during the resorptive bone phase to fatty T1- and T2-hyperintense bone marrow with hypointense, thick trabecular bone and thick surrounding skull tables in the osteoblastic phase of the disease.
- Langerhans cell histiocytosis: presents as a single or multiple “punched-out,” well-delineated lytic skull lesion(s) without a sclerotic border. The center of the lesion may contain a sequestrum. On MRI, these lesions appear T1 hypointense and T2 hyperintense and show intense contrast enhancement.
- Hereditary multicentric osteolysis: characterized by progressive osteopenia and osteolysis without osteoblastic response (sclerosis), possibly leading to complete resorption of the affected bone. Unlike Gorham disease, there is no underlying vascular proliferation.
- Treatment:
- Although medical and radiation therapy has been attempted in the past with varying degrees of success, surgical resection followed by artificial bone replacement remains the treatment of choice.
