Gorham's disease

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GORHAM’S DISEASE OR MASSIVE OSTEOLYSIS

Introduction

Gorham's disease is a very rare bone disease, disabling and progressive. This disease is characterised by the progressive vanishing of the bone (osteolysis), often associated with the abnormal swelling of the blood vessels (angiomatosis). The bone vanishing may affect only one bone or extend to the soft tissues of nearby bones, without necessarly being followed by an infections or tumorous cause.

Historical background

One of the first massive osteolysis observations made and described was by the French Breschet in 1926, followed by another observation in 1938 by Jackson and published in the Boston Medical and Surgical Journal.
Then, in 1954, Gorham and Stout published their first results on this disease, which were more detailed. They dedicated more time and all their passion for a better understanding, leaving their name to this unknown disease at the time.

 Symptoms

Gorham's disease is the result of an extremly rare bone disorder. Normally bones replenish themselves through a cycle of bone dissolution and regrowth. In some rare cases, bone loss occurs and progresses in certain areas of the body but no new bone growth takes place. This may occur in just one bone or several bones very closely located adjacent to the affected bone. Fibrous tissue then may appear in areas of bone loss, leading often to a fracture. When a fracture occurs, the disease may progress more quickly.

Most often, the discovery of the disease is performed after detecting abnormal pain in the bones or after fractures.
When the jaw, tooth sockets, neck, face and head are affected, possible symptoms may include loose teeth, fractures and pain.
A violent form of the disease may occur when fluids build-up in the space between the membrane that surround each lung and the chest clavity (pleural effusion).

 Causes

The exact cause of Gorham's disease is still unknown, but ongoing clinical research attempts to better understand the causes of this bone disorder.
Since 1954 until today, different hypothesis were formulated but none so far gives a clear explanation as to the exact cause of this disease. Amongst others, several researchers state that a disfunction causes bone destroying cells to predominate over bone building cells, causing bone resorption. However, the cause of this disfunction still remains unknown.

Affected population

Gorham's Disease may occur in all age groups, although statistics outline the most affected group of people is between 9 months and 30 years old, affecting males slightly more often than females. 

The bones most often affected are those of the : hand, arm, shoulder, ribs, part of the pelvis, femur, or jaw. Also, other areas affected are the skull, the spine, the hips, the lungs and the spleen. 

Therapies

For now, testing allowing to detect Gorham's Disease includes X-rays, biopsy, scanner, MRI, lymphography (in the case of pleural effusion), and the bone scintigraphy which allows to detect different areas where bones may be afftected.

As of today, no treatment has allowed the complete stabilisation of the disease. Generally, people affected by Gorham's Disease are prescribed with Vitamin D, calcium, biphoshonates, pamidronate cures such as Aredia into several days intravenous injections. In the case of pain, an analgesic or anti-inflammatory treatment is proposed.
Radiotherapy has been used, but with unconvincing results. Surgical treatment by curetting or by bone grafting has often been employed. In the case of a bone grafting, it has been discovered that a graft can not be positive if it is performed during the active phase of the affection because the angiomatous tissues may contaminate the bone transplant.

Evolution

The evolution of Gorham's disease may vary significantly depending on each case. Generally, a bone may vanish between 4 months and 5 years. Some active phases followed by stable phases occur very often. There is no clear diagnostic on the stabilisation period of the disease. The disease may stabilise between several months and several years.
Death related to the disease is extremely rare, only pleural effusion may be the cause.
The disease does not seem to be hereditary or genetic related.

References 

Articles from medical press 

Fujiu K., Kanno R, Suzuki H, and al. Chylothorax associated with massive osteolysis (Gorham’s syndrome). Ann Thorac Surg. 2002 ; 73:1956-57
 Benhalima H, Lazrak A, Boulaich M, and al. Massive osteolysis of the maxillo-facial bones : case report and review of the literature. Odontostomatol Trop. 2001 ; 24:35-40 
 Wenger DE, Wold LE. Benign vascular lesions of bone : radiologic and pathologic features. Skeletal Radiol. 2000 ; 29:63-74 

Other related articles 

Yoo SY, Hong SH, Chung HW, and al. MRI of Gorham’s disease : findings in two cases. Skeletal Radiol. 2002 ; 31:301-06 
 Chaffanjon P, Frey G, and al. Chylothorax complicating Gorham’s disease. Ann Thorac Surg. 2001 ; 72:937-39 
 Hirayama T, Sabokar A, Itonaga I, and al. Cellular and humeral mechanisms of osteoclast formation and bone resorption in Gorham-Stout disease. J.Pathol. 2001 ; 195:624-30 
 Krohel DR, Freedman K,  Peters CB and al. Gorham disease of the orbit. Am J.Ophtalmol. 
 Rao P, Kotwal PP, Goel S. Painless destruction of the shoulder joint : a case report. Clin Rheumatol. 2001 ; 20: 143-46 
 Moller G, priemel M, Amling M, and al. The Gorham-Stout  syndrome ( Gorham’s massive osteolysis ). A report of six cases with histopathological findings. J Bone Joint Surg Br. 1999 ; 81 :501-06 

Internet 

Clough JFM, Donaldson GWK, McNeely B, Management of a fracture in a known case of Gorahm’vanishing bone disease. Surgery and Orthopedics Poster Session. INABIS’98.

www.mcmaster.ca/inabis98/surgeryortho/clough0143/index.html

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