Gorham’s Disease: Rare Missing Bone Phenomenon

What is Gorham’s Disease?

Gorham’s Disease is a very rare, progressive disorder of the bone. It is characterized by bone loss (or osteolysis), and a swelling or abnormal growth of blood vessels (angiomatous proliferation) and lymph vessels (lymphangiomatous proliferation), inside the bones. Because of the loss of the affected bone, the condition has been referred to as disappearing bone disease, vanishing bone disease, and massive osteolysis.

What Cause Gorham’s Disease?

The exact cause of GSD is unknown. No environmental, immunological or genetic risk factors have been identified. Most cases occur randomly for no known reason (sporadically). Vascular anomalies always occupied space that normally would be filled with new bone and speculated that the presence of angiomatosis may lead to chemical changes in the bone. Such a change in the bone chemistry might cause an imbalance in the rate of osteoclast activity to osteoblast activity such that more bone is dissolved than is replaced. histopathological study provided good evidence that osteolytic changes seen in Gorham’s disease are the result of hyperactive osteoclastic bone.

Following theories have been proposed towards development of the condition:

  • A change in the bone-generating cells (osteoblasts) and bone-destroying cells (osteoclasts) ratio

Under normal circumstances, bones are destroyed once they become old, and are replaced by new bones. This is a continuous cycle at the cellular level, wherein osteoclasts secrete enzymes that destroy old bones, and osteoblasts help in the formation of new bones.

gorham's disease pictures

gorham’s disease pictures

Typically, unless a bone is growing the rate at which the bones get destroyed matches the rate at which new bones are formed, thereby maintaining the overall bone mass. When the process of destruction of old bones exceeds the formation of new bones, the ratio of bone formation to bone destruction is affected, causing the bones to get dissolved, but not replaced.

  • The changes influencing the osteoblast-osteoclast ratio
  • Abnormalities with blood circulation.

Common Symptom of Gorham’s Disease

The signs and symptoms of Gorham-Stout Disease can vary between individuals. The common symptoms of GSD may include:

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Fractures

  1. Development of fibrous tissue in the areas of bone loss
  2. Angiomas: Abnormal tissue growth caused by small blood or lymphatic vessels, which may lead to swelling
  3. Bone loss in the hands, arms, shoulder, ribs, pelvis, thighbone, and jaw
  4. Pain and swelling in the affected area
  5. Loose tooth
  6. Deformity of the face
  7. Recurrent meningitis

The symptoms of Gorham’s disease vary depending on the bones involved. It may affect any part of the skeleton, but the most common sites of disease are the shoulder, skull, pelvic girdle, jaw, ribs, and spine.

How Gorham’s Disease Diagnose?

Gorham’s disease is typically diagnosed in children and young adults, with most cases diagnosed before the age of 40. Gorham-Stout Disease is often diagnosed when a fracture occurs that does not heal quickly. Doctors may require the following clinical, histopathological, and radiological observations to arrive at an accurate diagnosis. The diagnosis is based on anamnestic data (nonhereditary), biochemical data (absence of nephropathy), radiographical data (progressive monocentricosteolysis without periosteal reaction) and histological data (intraosseousangiomatosis with either capillaries or lymph vessels, or both; eventually fibrosis):

  • A thorough physical examination and an assessment of symptoms
  • Evaluation of personal medical history
  • Ultrasound imaging, X-ray studies of the affected bones
  • Computed tomography (CT) and magnetic resonance imaging (MRI) scan of the affected bones
  • Biopsy of a sample from the affected bone: A biopsy of the affected bone is performed and sent to a laboratory for a pathological examination. A pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a diagnosis
  • Osteolytic radiographic pattern
  • Negative hereditary, metabolic, neoplastic, immunologic, or infectious etiology.
  • Osteolytic radiographic pattern
  • Negative hereditary, metabolic, neoplastic, immunologic, or infectious etiology.
  • Evidence of local bone progressive osseous resorption

Although Gorham’s disease is not recognized until a fracture occurs, with subsequent improper bone healing. The diagnosis essentially is one of exclusion and must be based on combined clinical, radiological and histopathological findings.

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Gorham’s disease is also sometimes referred to as cystic angiomatosis of bone diffuse, Gorham-Stout syndrome, and Gorham-Stout disease, as well as disappearing bone disease, vanishing bone disease, and massive osteolysis.

Gorham’s Disease Complication

The degree of complications ranges from mild to severe, or even life-threatening. In some cases, affected people may rapidly develop pain and swelling in the affected area, or a fracture on the affected site. Complications from Gorham’s disease may occur when fluids build-up in the space between the membrane that surround each lung and line the chest cavity (pleural effusion). This can have serious consequences, including loss of protein, malnutrition, and respiratory distress and failure. Complications that may arise in individuals with Gorham-Stout Disease may include:

  • Pathological fracture: A medical condition resulting in broken bones, due to bone weaknesses
  • Pleural effusion: Accumulation of excess fluid between the layers of the pleura outside the lungs
  • Pericardial effusion: Accumulation of excess fluid between the pericardium (lining of the heart) and the heart
  • Chylous ascites: The leakage of chyle fluid into the abdominal cavity from the duct in the lymphatic system
  • Hemangioma: The formation of non-cancerous tumors caused by the formation of new blood vessels
  • Bone lysis, or the destruction of bone due to removal or loss of calcium
  • Restricted movement
  • Neurological problems with spinal cord involvement
  • Disfigurement
  • Distress and depression

How to Treat Gorham’s Disease

Sometimes the bone destruction spontaneously ceases and no treatment is required. But when the disease is progressive, aggressive intervention may be necessary.

  • Cardiothoracic (heart & lung): Pleurodesis, ligation of thoracic duct, pleurperitoneal shunt, radiation therapy, pleurectomy, surgical resection, thalidomide, Interferon alpha 2b, TPN nutrition, thoracentesis, medium chain triglyceride and high protein diet, chemotherapy, sclerotherapy, transplantation.
  • Skeleton: Interferon alpha 2b, bisphosphonates (i.e. pamidronate), surgical resection, radiation therapy, sclerotherapy, percutaneous bone cement, and bone grafts, prosthesis, surgical stabilization, amputation.

To date, there are no known interventions that are consistently effective for Gorham’s and all reported interventions are considered experimental treatments for Gorham’s, though many are routine for other conditions. Some patients may require a combination of these approaches.

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Gorham’s DiseaseTreatment options may include:

  • Medication/drug therapy

Anti-vascular and immunosuppressant medications have proven effective for slowing and even reversing the damaging effects of Gorham-Stout. Clinical studies include these medications:

  1. Sirolimus: Also known as rapamycin, this oral medication has been found to effectively slow the progression of Gorham-Stout, reduces symptoms and complications and generally stabilizes the disease. This medication suppresses the immune system and targets lymphatic vessel formation.
  2. Interferon alfa-2b: Medication that inhibits the formation of lymphatic vessels and improves symptoms.
  3. Bisphosphonates: A class of medications designed for osteoporosis that work to slow bone loss and can help to stabilize Gorham-Stout disease.
  • Surgery

Surgicalprocedure done for stabilizes or removes affected bone, or to treat symptoms and complications related to the disease. Surgery may involve:

# Resection of the lesion
# Reconstruction through bone grafting or prostheses
# Pleurectomy: A surgical procedure to remove part of the pleura

  • Pleurodesis: A medical procedure to join the outside of the lung to the inside of the chest to prevent a collapsed lung.
  • Thoracic duct ligation
  • Use of anti-cancer chemotherapy medications
  • Radiation therapy (rarely)

Radiation is also an effective treatment for complications of the disease, such as chylothorax, a leakage of lymphatic fluid into the chest.

Prognosis of Gorham’s Disease

The prognosis of Gorham-Stout Disease depends on a number of factors, which include the severity of symptoms, the bones and organs affected effectiveness of treatment, and the overall health of the affected individual. When just the limbs or pelvis are affected, there generally is no threat to life. However, pulmonary involvement with chylothorax (a type of pleural effusion) or spinal involvement (causing neurological complications) may mean a poor prognosis, and can even lead to death. It is therefore important for oral pathologists to be aware of its existence as a rare case of osteolysis in maxillofacial skeleton.

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