Gorham's disease
Encyclopedia
Gorham's disease is a rare congenital disorder characterized by proliferation of vascular channels that cause massive destruction of bone matrix.
The disease was first described by Gorham et al. in 1954.
Dull musculoskeletal pain and progressive weakness is typical, with a protracted but progressive development of symptoms.
Gorham's disease may cause pathologic fracture
s, and acute or chronic pain
. In children it may cause bone deformity. When detected early, radiographic
evidence of decreased bone mass can be found.
Involvement of the thoracic skeleton may cause mediastinal
involvement resulting in pericardial
or pleural effusion
s. This may be due to the patient suffering from a combination of lymphangiomatosis
(LYMF) and Gorham's disease.
Surgical removal of lesions and various reconstructive/supportive procedures as well as prosthesis are of value, however bone grafts tend to be of limited effect as they are often quickly reabsorbed.
Additional treatment required for the correction of mediastinal complications include pleurodesis
, pleurectomy, thoracic duct ligation.
Although the above treatments have been tried in various cases, they have not had consistent success.
The disease was first described by Gorham et al. in 1954.
Synonyms
Synonyms include:- Disappearing Bone Disease
- Essential Osteolysis
- Gorham's Syndrome
- Gorham-Stout Syndrome
- Idiopathic Massive Osteolysis
- Massive Gorham Osteolysis
- Massive Osteolysis
- Morbus Gorham-Stout Disease
- Progressive Massive Osteolysis
- Vanishing Bone Disease
- Phantom Bone Disease
Signs and symptoms
The presentation of the disease varies considerably, and a high index of suspicion is needed to reach an early diagnosis.Dull musculoskeletal pain and progressive weakness is typical, with a protracted but progressive development of symptoms.
Gorham's disease may cause pathologic fracture
Pathologic fracture
A pathologic fracture is a broken bone caused by disease leading to weakness of the bone. This process is most commonly due to osteoporosis, but may also be due to other pathologies such as: cancer, infection, inherited bone disorders,or a bone cyst...
s, and acute or chronic pain
Chronic pain
Chronic pain has several different meanings in medicine. Traditionally, the distinction between acute and chronic pain has relied upon an arbitrary interval of time from onset; the two most commonly used markers being 3 months and 6 months since the initiation of pain, though some theorists and...
. In children it may cause bone deformity. When detected early, radiographic
Radiography
Radiography is the use of X-rays to view a non-uniformly composed material such as the human body. By using the physical properties of the ray an image can be developed which displays areas of different density and composition....
evidence of decreased bone mass can be found.
Involvement of the thoracic skeleton may cause mediastinal
Mediastinum
The mediastinum is a non-delineated group of structures in the thorax, surrounded by loose connective tissue. It is the central compartment of the thoracic cavity...
involvement resulting in pericardial
Pericardium
The pericardium is a double-walled sac that contains the heart and the roots of the great vessels.-Layers:...
or pleural effusion
Effusion
In physics, effusion is the process in which individual molecules flow through a hole without collisions between molecules. This occurs if the diameter of the hole is considerably smaller than the mean free path of the molecules...
s. This may be due to the patient suffering from a combination of lymphangiomatosis
Lymphangiomatosis
Lymphangiomatosis is a condition where a lymphangioma is not present in a single localised mass, but in a widespread or multifocal manner. It is a rare neoplasm which results from an abnormal development of the lymphatic system...
(LYMF) and Gorham's disease.
Treatment
Therapeutical measures mainly focus on limiting the progression of the disease, and medical treatment options include the following:- Radiation therapyRadiation therapyRadiation therapy , radiation oncology, or radiotherapy , sometimes abbreviated to XRT or DXT, is the medical use of ionizing radiation, generally as part of cancer treatment to control malignant cells.Radiation therapy is commonly applied to the cancerous tumor because of its ability to control...
- BisphosphonateBisphosphonateBisphosphonates are a class of drugs that prevent the loss of bone mass, used to treat osteoporosis and similar diseases...
s (anti-osteoclastic effect) - Alpha-interferon
Surgical removal of lesions and various reconstructive/supportive procedures as well as prosthesis are of value, however bone grafts tend to be of limited effect as they are often quickly reabsorbed.
Additional treatment required for the correction of mediastinal complications include pleurodesis
Pleurodesis
Pleurodesis is a medical procedure in which the pleural space is artificially obliterated. It involves the adhesion of the two pleura.- Uses :Pleurodesis is done to prevent recurrence of pneumothorax or recurrent pleural effusion...
, pleurectomy, thoracic duct ligation.
Although the above treatments have been tried in various cases, they have not had consistent success.