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NORD is very grateful to Francine Blei, MD, MBA, Medical Director, Vascular Birthmark Institute of New York, Roosevelt Hospital; Michael T. Dellinger, PhD, Research Director, Lymphatic Malformation Institute; and Jack Kelly, Lymphangiomatosis & Gorham's Disease Alliance, for assistance in the preparation of this report.
Synonyms of Gorham-Stout Syndrome
- Disappearing Bone Disease
- Essential Osteolysis
- Gorham’s syndrome
- Gorham's Syndrome
- Idiopathic Massive Osteolysis
- Massive Gorham Osteolysis
- Massive Osteolysis
- Morbus Gorham-Stout Disease
- Progressive Massive Osteolysis
- Vanishing Bone Disease
- No subdivisions found.
Gorham-Stout syndrome (GSS), which is also known as vanishing bone disease, disappearing bone disease, massive osteolysis, and more than a half-dozen other terms in the medical literature, is a rare bone disorder characterized by progressive bone loss (osteolysis) associated with the overgrowth (proliferation) of lymphatic vessels. Affected individuals experience progressive destruction and resorption of bone. Multiple bones may become involved. Areas commonly affected by GSS include the ribs, spine, pelvis, skull, collarbone (clavicle), and the jaws (maxillofacial area). Pain and swelling in the affected area may occur. Bones affected by GSS are prone to reduced bone mass (osteopenia) and fracture. The severity of GSS can vary from one person to another and the disorder can potentially cause disfigurement and functional disability of affected areas. The exact cause of GSS is unknown.
While GSS mainly involves the musculoskeletal system, it can involve the viscera, and is closely related to generalized lymphatic anomaly (GLA, also known as lymphangiomatosis). Patients with GLA have multifocal lymphatic malformations. These malformations can be present in bone but do not cause the loss of cortical bone. Lymphatic malformations are rare non-malignant masses consisting of fluid-filled channels or spaces thought to be caused by the abnormal development of the lymphatic system, which includes lymph nodes, the small nodules where certain white blood cells (lymphocytes) and other cells participate in the immune regulatory system of the body. When fluid leaves arteries and enters the soft tissue and organs of the body, it does so without red or white blood cells. This thin watery fluid is known as lymph. The lymphatic system consists of a network of tubular channels (lymph vessels) that transport lymph back into the bloodstream. Lymph accumulates between tissue cells and contains proteins, fats, and lymphocytes. As lymph moves through the lymphatic system, it passes through the network of lymph nodes that help the body to deactivate sources of infection (e.g., viruses, bacteria, etc.) and other potentially injurious substances and toxins. Groups of lymph nodes are located throughout the body, including in the neck, under the arms (axillae), at the elbows, and in the chest, abdomen, and groin. The lymphatic system also includes the spleen, which filters worn-out red blood cells and produces lymphocytes; and bone marrow, which is the spongy tissue inside the cavities of bones that manufactures blood cells. Lymphatic malformations can affect any area of the body (except the brain), but most commonly affect the head and neck. When lymphatic malformations are widespread in bone and soft tissue, the term “lymphangiomatosis” is used. However, definition of the term “lymphangiomatosis” is controversial – if it doesn’t involve bone or cortical bone is preserved it will be called GLA. However, if cortical bone is lost it will be called GSS.
GSS is sometimes classified as a form of lymphangiomatosis. GSS was first described in the medical literature in 1838. In 1954, L. Whittington Gorham, MD, and colleagues reported on two affected individuals and then, a year later, provided a comprehensive review of the disorder.
Organizations related to Gorham-Stout Syndrome
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