Gorham's disease

Gorham's disease

Gorham's disease, also known as Gorham-Stout disease or vanishing bone disease, is a rare skeletal condition characterized by the progressive osteolysis (bone loss) and the proliferation of lymphatic vessels within the affected bone. The disease can lead to significant morbidity due to the weakening and eventual disappearance of bones.

Presentation

Gorham's disease can affect any bone in the body, but it most commonly involves the skull, clavicle, ribs, spine, and pelvis. The condition often presents with pain, swelling, and functional impairment in the affected area. In some cases, spontaneous fractures may occur due to the weakened bone structure.

Pathophysiology

The exact cause of Gorham's disease is unknown. However, it is characterized by the abnormal proliferation of lymphatic vessels within the bone, leading to the resorption of bone tissue. This process is thought to be mediated by various cytokines and growth factors that promote osteoclast activity and bone resorption.

Diagnosis

The diagnosis of Gorham's disease is primarily based on clinical presentation, imaging studies, and histopathological examination. Radiography, computed tomography (CT), and magnetic resonance imaging (MRI) are commonly used to assess the extent of bone loss and the presence of lymphatic proliferation. A definitive diagnosis often requires a biopsy of the affected bone, which typically shows the presence of lymphatic vessels and the absence of malignant cells.

Treatment

There is no standard treatment for Gorham's disease, and management is often individualized based on the severity and location of the disease. Treatment options may include:

• Bisphosphonates to inhibit bone resorption
• Interferon therapy to reduce lymphatic proliferation
• Radiation therapy to control local disease progression
• Surgical intervention to stabilize affected bones or reconstruct lost bone tissue

Prognosis

The prognosis of Gorham's disease varies widely depending on the extent and location of bone involvement. Some patients may experience spontaneous remission, while others may have progressive disease leading to significant disability. Early diagnosis and appropriate management are crucial for improving outcomes.

Related Pages

• Osteolysis
• Lymphatic system
• Bone resorption
• Bisphosphonates
• Interferon
• Radiation therapy
• Surgical intervention