Disappearing Bone Disease Research Articles

Chondromyxoid Fibroma of Clavicle Presenting as Radiological Disappearance of Bone

Case Presentation Chondromyxoid fibroma (CMF) is a relatively rare bone tumor of cartilaginous origin and it comprises less than 1% of all primary bony tumors. Clavicle is an unusual site of involvement for any bone tumor and may produce diagnostic dilemma. Approximately only 1% of all primary bone tumors may involve the clavicle. The literature on clinical features and outcome of CMF clavicle remains sparse. Conclusion We present an unusual case of CMF clavicle in which the medial aspect of the clavicle gradually disappeared on radiographs. CMF should be included in the differential diagnoses of disappearing bone disease.

GORHAM STOUT DISEASE:A RARE CASE REPORT

Background: Disappearing bone disease -Gorham Stout disease a unparallel case of Unknown Origin . Medical condition of Bones, which does not have any specic etiology. An extremely rare disorder, which causes the proliferation of endothelial channels and can lead to results and disappearance of bone. Here sudden bone osseous matrix is destroyed and also lymphatic vascular structures up proliferated and further leads to excessive regional osteolysis.With a variating clinical presentation and very often is diagnosed as benign disease which further spreads to an unclear prognosis.Mainly diagnosed by single and various combinations like clinical features, histological ndings and radiological ndings. Many therapeutic options have managed to provide certain efcacy, but most effective therapeutic option is still controversial without a certain standard treatment protocol Case presentation:A case of disappearing bone disease affecting the proximal femur, pelvis, sacrum in a 45 year old male has been described here. Clinical features of the disease are pain , swelling of the affected region, functional impairment. In this case the diagnosis was made after the pathological fracture of femur. Based on radiological and clinical ndings. Considering stabilisation as an important aspect internal xation that was done followed by Bisphosphonates used for progession control and is now being currently followed up with no cessation of disease. But internal xation has prevented complete severe disability. Conclusion:Hereby given that conrmed ethiopathology of disappearing bone disease is not completely veried and further study is still needed to effectively treat and provide intervention. But the need for every physician to know of it's presence, promptly direct a patient towards the right direction and we are hence reporting this for it's rarity.

A rare case of spine disappearing bone disease: Lesson learned and review of the literature

Abstract Disappearing bone disease, also known as Gorham's disease, is a rare idiopathic musculoskeletal disorder characterized by clinical and radiological disappearance of bone caused by a proliferation of non-neoplastic vascular tissue. The disease was first reported by Jackson in 1838 in a boneless arm. Primary involvement of the spine is rare and has been described in about 20 cases only. Gorham's disease is progressive in most patients and high morbidity and mortality is seen in patients with spinal involvement. We present on a case of a thirty-two-year-old man admitted to our department for acute onset of paraplegia and sensitive anesthesia below T1 level; a CT scan showed a C6–C7 fracture of the body, involving the posterior elements and characterized by high instability with 20° of kyphosis. The patient underwent a C2-T7 posterior fixation. At the 3-month follow-up, the patient recovered partial motility on the lower limbs and the implant appeared stable. In general, no single treatment modality has proven effective in arresting the disease. Only eight cases have been treated by surgical fixation. In fact, the literature review we performed showed paucity concerning the correct treatment, in particular, the timing of surgery. In light of this and given the very poor prognosis once neurological deficits appear, we support the surgical treatment soon after the spinal deformity and/or impending fracture is diagnosed.

Gorham's disease: A diagnostic challenge.

Gorham's disease is a rare disorder of uncertain etiology characterized by spontaneous and progressive osteolysis of one or more skeletal bones. Till date, less than 200 cases have been reported in the international literature with about 51 cases involving the maxillofacial site. The radiographic findings associated with Gorham's disease are particularly dramatic, as in some cases a complete resorption of the involved bone can occur, leading to the definition of phantom bone or disappearing bone disease. The purpose of this review is to make our community aware of this rare entity and to discuss the etiopathology, clinical presentation, radiographic findings, histopathology, differential diagnoses and treatment modalities for patients with vanishing bone disease.

Gorham-Stout syndrome presenting in a 5-year-old girl with a successful bisphosphonate therapeutic effect

Gorham-Stout syndrome (GSS), also known as Gorham-Stout disease, massive osteolysis, disappearing bone disease or phantom bone, is a rare disorder of the musculo-skeletal system. It most commonly involves the skull, shoulder and pelvic girdle. Histological examination reveals a progressive osteolysis always associated with an angiomatosis of blood vessels and sometimes of lymphatics, which seemingly is responsible for the destruction of the bone. It is extremely rare that Gorham-Stout syndrome involves the bones of the entire body. A 5-year-old girl complaining of intermittent and dull back pain for 3 months was admitted to a local hospital. X-ray revealed left pleural effusion, and the patient was diagnosed with tuberculous pleurisy. Thus, anti-tuberculosis therapy was performed. However, it was not effective. A soft mass with significant tenderness was found in the upper segment of the right leg 50 days afterwards. X-ray revealed multiple osteolysis of the bilateral clavicle, scapula, rib, vertebral body, ilium, sacrum, femur and tibia. The biopsy from the right tibia disclosed that the lesion was composed of hyperplastic blood vessels and fibrous tissues similar to hemangioma. Based on the above clinical, radiological and histopathological findings, the clinical physician confirmed a diagnosis of Gorham-Stout disease, and prescribed oral anti-osteoclastic medications consisting of bisphosphonates. At present, the girl is alive and healthy, and new lesions have not been noted.

The diagnosis and management of patients with idiopathic osteolysis

Idiopathic osteolysis or disappearing bone disease is a condition characterized by the spontaneous onset of rapid destruction and resorption of a single bone or multiple bones. Disappearing bone disorder is a disease of several diagnostic types. We are presenting three patients with osteolysis who have different underlying pathological features. Detailed phenotypic assessment, radiologic and CT scanning, and histological and genetic testing were the baseline diagnostic tools utilized for diagnosis of each osteolysis syndrome. The first patient was found to have Gorham-Stout syndrome (non-heritable). The complete destruction of pelvic bones associated with aggressive upward extension to adjacent bones (vertebral column and skull base) was notable and skeletal angiomatosis was detected. The second patient showed severe and aggressive non-hereditary multicentric osteolysis with bilateral destruction of the hip bones and the tarsal bones as well as a congenital unilateral solitary kidney and nephropathy. The third patient was phenotypically and genotypically compatible with Winchester syndrome resulting in multicentric osteolysis (autosomal recessive). Proven mutation of the (MMP2-Gen) was detected in this third patient that was associated with 3MCC deficiency (3-Methylcrontonyl CoA Carboxylase deficiency). The correct diagnoses in our 3 patients required the exclusion of malignant osteoclastic tumours, inflammatory disorders of bone, vascular disease, and neurogenic arthropathies using history, physical exam, and appropriate testing and imaging. This review demonstrates how to evaluate and treat these complex and difficult patients. Lastly, we described the various management procedures and treatments utilized for these patients.

Vanishing (Disappearing) Bone Disease in children - A review

Vanishing bone disease is a very rare, peculiar destructive condition of the skeletal system resulting in spontaneous and progressive resorption and disappearance of osseous structures with replacement by vascular, fibrous connective tissue. Children and adolescents are most commonly affected, although patients ranging in age from 18 months to 40 years have been reported. Its clinical presentation is highly variable largely depending upon the site of skeletal involvement. The maxillofacial territory and upper extremity bones are the predominant sites affected by this ailment. The etio-pathogenesis of this condition still remains poorly understood, the natural history and prognosis is unpredictable. Radiographic findings associated with vanishing bone disorder are particularly dramatic and characterized by complete resorption and disappearance of the affected bone leading to the definition of “vanishing bone” or “disappearing bone disease.” Although various treatment options have been suggested, in general, no single treatment modality has proven effective in arresting this rare clinical entity. The present article provides an insight into the in-depth comprehensive review of literature pertaining to this fascinating musculoskeletal disorder in children.

A Rare Case Report of Extensive Polyostotic Gorham's Disappearing Bone Disease Involving the Upper Extremity

Gorham's disease is a rare disorder involving the proliferation of endothelial channels resulting in resorption and disappearance of bone. An unusual case of polyostotic Gorham's disease affecting the scapula, humerus, radius, and ulna in a 39-year-old woman is described. The patient had extensive disease spreading across both the glenohumeral and humeroulnar joints. This is the first report of Gorham's disease spreading across multiple joints in the upper extremity.

Gorham-Stout Syndrome with Chylothorax in a Six-Year-Old Boy

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 rare disease 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.

Gorham–Stout disease: the experience of the Rizzoli Institute and review of the literature

Gorham-Stout disease (also known as "disappearing bone disease") was first described by Jackson in 1838, but was properly defined by Gorham and Stout in a series of 24 patients in 1954-1955. It is a rare disease of unknown etiology (about 200 cases reported in the literature) characterized by spontaneous progressive resorption of bone without malignant proliferation of vascular structures. The diagnosis is one of exclusion and it is based on combined histological, radiological, and clinical features. Benign vascular proliferation with fatty bone marrow and thinning of bony trabeculae is a typical histological feature. Standard radiographs of disappearing bone disease show progressive bony resorption with adjacent soft tissue involvement. Most cases of Gorham-Stout disease resolve spontaneously, but prognosis remains unpredictable. This study reports 13 cases of Gorham-Stout disease treated in our institution from 1968 to 2008. The aim of the work was to review our series and the literature on this rare disease, as well as to evaluate whether or not an optimal treatment can be identified and recommended.

Thirty-Year Follow-Up of Patient With Gorham Disease (Massive Osteolysis) Treated With Hip Arthroplasty

Gorham disease (also known as massive osteolysis or disappearing bone disease) is an exceedingly rare, peculiar entity of uncertain cause and unpredictable prognosis. There is no proven mode of therapy or consensus on treatment. We present 30-year follow-up on a patient successfully treated with resection, total hip arthroplasty, and radiation with no recurrence of disease. Our observations in this case suggest that surgical treatment and reconstruction can lead to good long-term function and disease-free survival.

Commentary: massive osteolysis or Gorham-Stout disease

In this issue of the Journal, three interesting case reports, one in the print version 1 Tong A.C.K. Leung T.M. Cheung P.T. Management of massive osteolysis of the mandible: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010; 109: 239-242 Google Scholar and two online, 2 Pedroletti F. Rangarajan S. McCain J.P. Velez I. The conservative treatment of a pathologic fracture in a patient with Gorham-Stout disease. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010; 109: e49-e52 Google Scholar , 3 Gondivkar S.M. Gadbail A. Gorham-Stout syndrome—a rare clinical entity and a review of literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010; 109: e41-e48 Google Scholar discuss a rare condition characterized by a massive and progressive loss of bone. Although rare, this disease is recognized by several names, including disappearing bone disease (phantom bone), Gorham syndrome, Gorham-Stout syndrome, Idiopathic massive osteolysis, massive Gorham osteolysis, massive osteolysis, Morbus Gorham-Stout disease, progressive massive osteolysis, vanishing bone disease, and essential osteolysis. This bone resorption abnormality can affect different sites of the skeleton and in some instances the head and neck region, as described in these 3 cases. Gorham-Stout disease (GSD) is characterized by massive bone loss, which can affect different skeletal sites, and excessive intraosseous proliferation of small blood or lymphatic vessels, resulting in resorption and destruction of bone. The case reports and literature review update the reader in the various aspects that involve this rare condition, including the fact that the condition is often diagnosed by exclusion and late.

Disappearing Bone Disease with Disappearing Spleen!

A 6-year-old girl who reported for pain abdomen was incidentally detected to have multiple osteolytic lesions on X-ray. She was diagnosed as a case of Gorham's disease following confirmation with histopathology and kept on close follow-up. She was admitted again after 2 years for fever and investigations revealed an absent spleen apart from multicentric osteolytic lesions. This is the first case reported of a child with Gorham's disease who has had an auto-splenectomy on follow-up. Key words: Gorham's disease (disappearing bone disease), osteolytic lesions, spleen. doi: 10.3126/jnps.v29i2.2047 J. Nepal Paediatr. Soc. Vol 29, No. 2, pp.94-97

Intercalary Bone Grafting for the Reconstruction of Phalangeal Osteolysis in Disappearing Bone Disease: Case Report

Disappearing bone disease (DBD) is a rare condition of unknown etiology that may cause massive hand deformity due to severe osteolysis and soft-tissue atrophy. Bone grafting of the affected metacarpal bones or wrist has been described with moderate success in only 4 cases, but phalanx reconstruction has not been attempted. We report a case with multicentric DBD that was treated with staged intercalary iliac bone grafting of the phalanges of the dominant thumb and index finger. After 3 years, no graft resorption was noticed and the patient reported considerable functional improvement.

Case Reports Gorham??s Disease

We present the case report of a 35-year-old man with Gorham's disease (disappearing bone disease, massive osteolysis) with initial clinical findings of small bowel lymphangiomatosis and multicentric osteolysis. The patient, who otherwise was healthy, had a chylothorax develop and he died 9 months later of thoracic and pulmonary complications. An autopsy revealed absence of the proximal thoracic duct and significant lymphangiectatic abnormalities of the pleural, peritoneal, diaphragmatic, splenic, and small bowel tissue with lymphangiomatous masses in the thoracic and mediastinal regions. The findings suggest a subtype of Gorham's disease characterized by a dysplastic lymphatic system. Osteolysis was correlated anatomically with lymphangiectatic tissue, suggesting mediation of osteoclastic resorption via local lymphatic tissue factors.

Disappearing Bone Disease

Disappearing bone disease is a rare condition manifested by massive osteolysis. Its etiology is unknown. Histologically, involved bones show a nonmalignant proliferation of thin-walled vessels. The mechanism of bone absorption remains unclear. No treatment has proven effective in arresting the disease. Cases in which there is extraosseous involvement have a much poorer prognosis.

“Disappearing bone disease” in the hand

"Disappearing bone disease" is a rare entity that is characterized by extensive osteolysis associated with hemangiomatosis. A case affecting a 13-year-old girl, with wide-spread hand involvement is reported. She did not respond to bone grafting but the condition was arrested after a course of radiation therapy.

Intrathoracic Lymphangioma

Of 14 cases of intrathoracic lymphangioma, 4 occurred in the anterior, 5 in the superior, and 4 in the posterior mediastinum. One lesion was diffuse and associated with disappearing bone disease (Gorham's disease). The anterior mediastinal lymphangiomas occurred in adults and seemed to arise from the mediastinum. They could not be distinguished from other anterior mediastinal lesions on plain film roentgenograms. The lesions of the superior mediastinum were extensions from cystic hygromas of the neck and occurred primarily in children. Recurrence was common because complete resection was not possible. Computed tomography was helpful in detecting the cervical extension and cystic nature of these lesions. Although two of the four posterior compartment lesions were isolated lymphangiomas, the other two were part of a much more extensive and generalized lymphangiomatosis that included bone lesions and subdiaphragmatic extension. Both of these latter cases were complicated by chylothorax after attempted removal of the mediastinal lymphangioma. Computed tomography and lymphangiography were helpful in determining the extent of the disease and the cystic and lymphatic nature of the mass. The patient with Gorham's disease had extensive lymphangiomatosis of the thorax and recurrent chylothorax; surgical treatment was unsuccessful. Although lymphangioma is a benign tumor, its infiltrative tendency complicates its removal and contributes to its postoperative recurrence.

Gorham's Disease of the Clavicle with Bilateral Pleural Effusions

A patient with Gorham's disease (massive osteolysis, disappearing bone disease) of the right clavicle had bilateral sanguinous pleural effusions. Complete cure was achieved by removal of the bony remnants with the hemangiomatous mass which caused bone destruction, and by obliteration of the pleural spaces using repeated talcum insertion. In six out of seven previously described cases of Gorham's disease with pleural effusions, the patients died, while the only survivor had a unilateral chylous effusion.

Disappearing bone disease. A clinical and histological study

The case histories of three patients, a man and two boys, with disappearing bone disease are reported. The clinical, roentgenographic, and histopathological features are described in detail. Histologically, in the early stages of the disease, the vanishing bone is replaced by numerous wide engorged capillaries. Eventually the bone is replaced by dense fibrous tissue. All three patients were treated by radiotherapy. Histochemical studies performed in one case revealed strong acid phosphatase and leucine aminopeptidase activities in perivascular mononuclear cells (possibly pericytes), suggesting that these cells took part in the bone resorption.