gorham_s_vanishing_bone_disease

Gorham’s Vanishing Bone Disease

Related Terms: Gorham’s Vanishing Bone Disease, lymphangiomatosis, lymphedema, Gorham’s disease, Gorham-Stout syndrome, Gorham’s syndrome, Gorham’s lymphangiomatosis, Morbus-Gorham-Stout disease, disappearing bone disease, vanishing bone disease, phantom bone disease, massive osteolysis, disseminated osseous bone disease, idiopathic massive osteolysis, essential osteolysis, acro-osteolysis syndrome, skeletal lymphangiomatosis, skeletal hemangiomatosis disseminated lymphangiomatosis, thoracic lymphangiomatosis, lymphedema, Chylothorax, bone resorption, periodontal diseasem, mandible

Discussion

A very rare syndrome marked by the gradual and often complete circumscribed spontaneous resorption of bone tissue or a group of bones. Fewer than 200 cases are reported in the medical literature. Thus information is limited and can be frustrating in locating.

The first known report of the condition came in 1838 in an article titled “A Boneless Arm” in what was then The Boston Medical and Surgical Journal, now The New England Journal of Medicine. The name itself comes from two physicians, Lemuel Whittington Gorham, MD, and Arthur Purdy Stout, MD and the research they undertook. At the time of the report in 1838 the patient was reported as having remarkable use of the arm, in spite of the humerus bone having apparently disappeared—x-rays did not yet exist. Thirty-four years later, in 1872, a follow-up report was published in the same journal, following Mr. Brown’s death from pneumonia at the age of 70 years

The condition is frequently posttraumatic and affects both sexes about equally. Clinical onset from childhood to young adulthood. Almost constantly unilateral, focal haemangioma involving one or several contiguous bones, including adjacent vertebrae; massive osteolysis. Soft tissues near bone lesion usually involved. Diffuse muscle atrophy. Involvement of the thoracic cage is usually fatal. Haemangioma on overlying skin or may not be present. The aetiology is unknown.

The earliest known publication was by J. B. S. Jackson (no more information available), who in 1838 first described its presence in the humerus of a 13-year-old boy. (1)

Symptoms

•Hemangioma •Massive bone destruction •Diffuse muscle atrophy •Chylous pleural effusion •Hematic pleural effusion •Bone angioma •Bone fibrosis •Osteoporosis •Progressive bone resorption •Fractures

Please note that symptoms vary depending on the specific area of the body that is involved. The most commonly involved sites include: the skull, jaw, shoulder, rib cage, and pelvis. If the lower or, upper jaw, tooth sockets or other bones in the face, neck or head are involved, symptoms may include pain, loose teeth, fractures, facial deformity, and/or recurrent meningitis.

Diagnosis

A case reported was published in 1983, in which the authors suggested eight riteria for a definitive diagnosis of Gorham’s. These include:

Absence of cellular atypia

Minimal or no osteoblastic response or dystrophic calcifications

Evidence of local bone progressive osseous resorption

Non-expansile, non-ulcerative lesions

No involvement of viscera

Osteolytic radiographic pattern

Negative hereditary, metabolic, neoplastic, immunologic, or infectious etiology.

Complications

Serious and even life threatening complications can arise when fluid builds up the pleural cavity, more specifically the space between the membrane that surrounds each lung and that line the chest cavity. When the fluid builds up it can also cause loss of protein, malnutrition (body is unable to process nutrients correctly), respiratory distress and failure.

The pleural effusion can be managed too, depending on the severity of it. In the most extreme cases or in cases where there is a constant rebuild up of fluids, drainage catheters, such as the Pleurex catheter can be inserted into the chest cavity. Though I do not have Gorham’s, I did have a situation where the lung fluid buildup was extreme. To manage it, I had three Pleurex catheterrs installed and they did a marvelous job with no compliations until I had them removed this year. I had the catheters for over three years.

Treatment

There is no specific treatment for a “cure” of Gorham’s Disease. Treatments will focus on the complications that accompany an individual situation of the disease. This can range from no treatment to extensive treatments including surgeries.

A search of the medical literature reveals multiple case reports of interventions, with varying rates of success as follows:

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, 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. Unfortunately, some patients will not respond to any intervention.

Lymphedema is a reported complication and it will need to be managed/treated immediately to prevent further limb swelling. The standard of treatment at the present time is complete decongestive therapy with the wearing of compression garments and/or the use of compression bandages.

(1) WhoNamedIt

Abstracts and Studies

Gorham's disease -- a report of a case with mandibular involvement in a 10 year follow-up study.

Jan 2012

Reddy SJ, Jatti DS.

Source

1Professor and, Department of Oral Medicine, Diagnosis and Radiology, MS Ramaiah Dental College and Hospital Karnataka India.

Abstract

Gorham's disease or vanishing bone disease is a rare condition of unknown aetiology. Any bone of the body can be affected, although there is a predilection for the pelvis, humerus, axial skeleton and the mandible. The mandible is the most commonly involved bone in the maxillofacial region. 41 cases have been reported so far in the literature showing involvement of the mandible in Gorham's disease. This paper presents a rare case of Gorham's disease involving the mandible in a 38-year-old male with a 10 year follow up.

PubMed

Gorham-Stout syndrome with chylothorax in a six-year-old boy.

June 2011

Deveci M, Inan N, Corapçıoğlu F, Ekingen G.

Source

Department of Pediatric Cardiology, Ege University Faculty of Medicine, 225 sokak, No: 10/25, 35040 Bornova-Izmir, Turkey. m4deveci@yahoo.com

Abstract

Gorham-Stout syndrome, also called “disappearing bone disease, diffuse cystic angiomatosis of bone, disseminated lymphangiomatosis, Gorham's vanishing bone disease, phantom bone disease or idiopathic massive osteolysis, is a raredisease of unknown etiology and pathogenesis. It is characterized by rapidly progressive localized massive osteolysis associated with proliferation of vascular structures of benign origin in which the absence of new bone formation is representative. When it is complicated by chylothorax, the prognosis is poor. The authors report a 6-year-old boy with Gorham-Stout syndrome who presented with pleural effusion showing features of chylothorax, who responsed poorly to currently available therapeutic modalities.

Springerlink

Absent right iliac bone on Tc99m MDP bone scan in a patient with Gorham's vanishing bone disease.

Jan 2010

Othman S. Source Department of Radiology and Medical Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Abstract

Gorham's (vanishing bone) disease is an extremely rare condition of the bone. The diagnosis is usually made on the basis of the characteristic history of osteolysis and failure of bone healing in conjunction with the histological findings of marrow fibrosis and increased vascularity. When the disease is established, an X-ray and magnetic resonance imaging show complete loss of affected bone. There are very few reports found in literature on bone scan appearance of the disease. Abone scan of a 24-year-old female patient with known Gorham's disease revealed absence of tracer uptake in the right iliacbone, right sacroiliac joint, and part of the right ischial pubic rami, which matched the radiographic abnormalities. Consequently this disease should be added to the gamut of cold defects seen on bone scan.

PubMedCentral

A case of Gorham's disease with chylothorax treated curatively with radiation therapy.

May 2005

Duffy BM, Manon R, Patel RR, Welsh JS. Source University of Wisconsin Medical School, Madison, WI 53792, USA.

Abstract

Gorham's disease, also known as vanishing bone disease or massive osteolysis, is a rare disorder of uncertain etiology. It is characterized by uncontrolled proliferation of vascular or lymphatic capillaries within bone, leading to resorption and replacement with angiomatous tissue. It can be complicated by chylous pericardial and pleural effusions, which can be life threatening. Patients are also at risk of mortality or serious morbidity due to bone destruction, especially when the diseaseinvolves the spine. We report the case of a 31-year-old female with Gorham's disease involving several bones along with chylous pericardial and pleural effusions. She was effectively treated with definitive radiation therapy.

PubMedCentral