In six out of seven previously described cases of gorham. Gorhamstout disease gsd is a rare condition of osteolysis with excessive lymphangiogenesis within bone tissue. Gorhams disease is a rare osteolytic disorder characterized by progressive resorption of bone and replacement of osseous matrix by a proliferative nonneoplastic vascular or lymphatic tissue. A report of two children with gorhamstout disease bmc pediatrics.
Gorhamstout disease is an exceptionally rare, poorly understood and potentially fatal skeletal condition. Gorhamstout disease nord national organization for. Cureus the first clinical case of gorhamstout syndrome. A case of gorham disease involving the maxillofacial region in a 25yearold male with an emphasis on. Here, we present a case of gorhamstout disease diagnosed during followup of a patient with cholesteatoma. Gorhams disease, also known as massive osteolysis, gorhamstout disease, vanishing bone disease, or, phantom bone disease is a rare disorder of the musculoskeletal. Other terms for this condition include phantom bone disease, vanishing or disappearing bone disease, and gorham stout syndrome 1, 2, 3, 4. Surgical, radiation and medical therapies have been performed with variable and often discouraging outcomes and currently there is no recognized effective treatment. Symtoms may include pain, swelling, and increased risk of fracture. Generalized lymphatic anomaly and gorham stout disease are extremely rare diseases with severe symptoms and poor prognosis.
Massive osteolysis known as gorhamstout disease is a rare idiopathic disorder typically affecting long bones in a unifocal pattern. It is known variously as massive osteolysis, disappearing bone, or vanishing bone disease, and a variety of other names. Gorhamstout syndrome is an aggressive, nonheritable skeletal disease characterized by osteolysis following minor trauma. Stout gs disease is a rare disease of the bone and is also known as massive osteolysis. A collection of disease information resources and questions answered by our.
Complete cure was achieved by removal of the bony remnants with the hemangiomatons mass which caused bone destruction, and by obliteration of the pleural spaces using repeated talcum insertion. Gorhamstout disease mimicking spondyloarthritis the. Gorhams disease, also known by the name of disappearing bone disease, is an extremely uncommon medical condition of the skeletal system which does not have a specific etiology in which there is uncontrolled proliferation of lymphatic channels within the bone causing resorption and replacement of bone fibrosis. Generalized lymphatic anomaly and gorhamstout disease are extremely rare diseases with severe symptoms and poor prognosis. Abstract background generalized lymphatic anomaly gla and gorhamstout disease. A case of gorham s disease disappearing bone disease of the clavicle with bilateral pleural effusions was described by us in chest.
Gorham disease, a rare condition of unknown etiology, pres ents as skeletal lucency on radiographs, prompting the classic eponym of vanishing bone disease. Generalized lymphatic anomaly and gorhamstout disease. Cd105endoglin expression in gorham disease of bone. Imaging studies including conventional radiography of the skull, ct, mr imaging, and technetium99 m tc99 m. Gorhams disease genetic and rare diseases information center. Gorhams disease is a rare disorder characterized by a proliferation of thinwalled lymphatic vessels lymphangiectasia resulting in an osteolysis. Gorham disease, also known as gorhamstout syndrome. In this circumstance, surgery including thoracic duct ligation, pleurodesis, and excision of involved tissue is probably the treatment of choice. The histologic diagnosis of gorham disease was made based on the replacement of osseous tissue with fibrous tissue and large dilated vessels. A chest radiograph showed osteolysis of the left first, second, and third ribs. Gorhams disease is a potentially lethal form of lymphangiomatosis, characterized by a proliferation of lymphatic vessels accompanied by osteolysis.
The etiology and clinical presentation of the patients remain poorly defined, but recent research has attempted to determine the pathogenesis of. The goal of treatment is to arrest progression of the osteolysis, as remineralization or reformation of affected bones is not seen. Bone loss can occur in just one bone, or spread to soft tissue and adjacent bones. There have been fewer than 150 cases reported in the literature. A patient with gorhams disease massive osteolysis, disappearing bone disease of the right clavicle had bilateral sanguinous pleural effusions. It is characterized by the local proliferation and dilation of lymphatic vessels, which causes spontaneous progressive osteolysis with bone resorption. Gorham and stout were the first to define this disease back in 1954 and 1955. To the best of our knowledge, new bone formation has not been reported in previous cases of gorham s disease. Till date, less than 200 cases have been reported in the international literature with about 51 cases involving the maxillofacial site. Gorhams disease is a rare bone disorder characterized by bone loss osteolysis, often associated abnormal blood vessel growth angiomatous proliferation. Chylothorax as a debut form of gorhamstout disease.
The gorhamstout is a rare disease that occurs with vascular proliferation, angiomatosis and bone lymphangiomatosis with progressive. Report of a rare case of gorhamstout disease of both. Complex single step skull reconstruction in gorhams. Gorhams disease, also known as idiopathic massive osteolysis, is a rare pathological condition characterized by. Gorham s disease is a rare bone disorder characterized by bone loss osteolysis, often associated abnormal blood vessel growth angiomatous proliferation. Gorhamstout disease vanishing or disappearing bone disease, phantom bone is a rare disease of unknown aetiology that is characterized by massive osteolysis and excessive intraosseous proliferation of small blood or lymphatic vessels, resulting in progressive resorption of bone.
Viewpoints on vessels and vanishing bones in gorhamstout. Gorhamstout disease gsd is an extremely rare disease characterized by spontaneous osseous matrix destruction and proliferation of lymphatic vascular structures, associated with massive regional osteolysis 1,2,3. Our novel approach combined surgical intervention, medication and radiotherapy as a treatment of grahamstout disease in the humerus, and showed no progression of the disease our case. Gorhamstout syndrome gss is a rare disorder of complete bone resorption, characterized by lymphangiomatosis and angiomatosis of bone, with only around 200 cases reported from around the world till date. To the best of our knowledge, this is the first report of gorhamstout disease diagnosed with recurrent cerebrospinal leakage after surgery to treat cholesteatoma. Gorham s disease, also known by the name of disappearing bone disease, is an extremely uncommon medical condition of the skeletal system which does not have a specific etiology in which there is uncontrolled proliferation of lymphatic channels within the bone causing resorption and replacement of bone fibrosis. Gorham disease of bone, also known as massive osteolysis or disappearing bone disease, is a rare pathological condition characterised by a proliferation of vascular channels of haematic and lymphatic origin in bone and adjacent soft tissues. In conclusion, this report documents a case of gorhams disease arising in the maxilla of a 56yearold man. It may affect any part of the skeleton, but most commonly involves the skull.
It may affect any part of the skeleton, but most commonly involves the skull, collarbone. A case of gorhams disease disappearing bone disease of the clavicle with bilateral pleural effusions was described by us in chest. Weather angiomatosis is the cause or the result of osteolysis is subject of intense discussion kawasaki et al. Gorham stout syndrome is a disease that presents idiopathic osteolysis of a bone or closely contiguous area.
Unlimited viewing of the articlechapter pdf and any associated supplements and figures. Gorhams disease was first reported in 1838, again in 1872, and was finally defined in 1955 by gorham and stout as a specific. Gorhamstout disease is an extremely rare disease of unknown etiology. Gorhamstout disease gsd is a rare disorder characterized by the proliferation of nonneoplastic thinwalled vascular tissue associated with progressive osteolysis 1 a 37yearold woman with a 7year history of chronic bilateral pelvic pain was evaluated for aggravated left hip pain. The diagnosis is made on clinical, radiological, and histopathological findings and exclusion of other common conditions, and treatment is based on the physicians judgment and. Gorhams disease of the clavicle with bilateral pleural. Gorhamstout disease gsd, which is also known as vanishing bone disease, disappearing bone disease, massive osteolysis, and more than a halfdozen other terms in the medical literature, is a rare bone disorder characterized by progressive bone loss osteolysis and the overgrowth proliferation of lymphatic vessels. Despite the extensive investigation of the pathogenetic mechanisms, its etiology still remains obscure. Its an exceptionally tricky surgery because as the disease progresses, it destroys the vertebra surrounding the fusion hardware. Gorhamstout disease gsd, also known as massive osteolysis, vanishing bone disease, phantom bone disease, gorhams disease and gorhamstout syndrome is a rare disease of unknown etiology characterized histologically by the proliferation of endotheliallined vessels in bone and by the replacement of bone with fibrous tissue. The disease is most often seen in children and young adults.
Lymphangiomatosis and gorhams disease alliance europe. We report a case of gorhams disease of the chest wall in a 29yearold man. A followup radiograph obtained 2 years after presentation showed spontaneous regression of the disease and reformation of the resorbed bone. Gorhamstout disease gsd is characterized by aggressive bone resorption, proliferatio. Gorhamstout syndrome in the spine is extremely rare, and there is no standard curative management thus far. A case report of gorhamstout disease diagnosed during the. A standardized treatment protocol has not yet been defined due to the unpredictable natural history of the disease and variable clinical presentations. To our knowledge the number of identified cases worldwide ranges around 300. Pdf gorhams disease is a rare condition characterized by progressive osteolysis of bone with ultimate total disappearance of bone. Gorhams disease is a rare disorder involving the proliferation of endothelial channels resulting in resorption and disappearance of bone.
Currently, there is no universally accepted treatment for patients with gorhams disease. We present a pathologically proved case of gorham disease that involved the left parietal bone in a 23yearold man. Treatments remain limited, and more evidence is needed to identify successful management strategies. Gorhamstout syndrome is a disease that presents idiopathic osteolysis of a bone or closely contiguous area. Gorham disease is an extremely rare bone disorder in. Gorhams disease is a rare disorder of uncertain etiology characterized by spontaneous and progressive osteolysis of one or more skeletal bones. Angiomatosis is strongly connected to the osteolysis. The incidence is very rare, with only a few hundred case reports described in literature 1, 2. Gorhamstout syndrome, or disappearing bone disease, is characterized by the proliferation of thinwalled vascular channels associated with regional osteolysis. It may affect one or several usually contiguous bones. The objective of this article is to report a very rare case of gorhamstout syndrome of the lumbar and sacral spine with chylothorax and chyloperitoneum successfully treated by combination of vertebroplasty with cement augmentation and medication treatment. It is a rare condition that is difficult to diagnose, and its treatment is controversial. Gorhams disease genetic and rare diseases information. Gorhamstout disease, also named vanishing bone disease, phantom bone disease, or idiopathic massive osteolysis, is a rare bone disorder characterized by progressive osteolysis with lymphatic and vascular proliferation.
A rare case report of extensive polyostotic gorhams. Presently, only approximately 300 cases of gsd have been reported. Gorham s disease gd is a rare disorder characterized by spontaneous and progressive osteolysis of one or more bones and thought to belong to lymphangiomatoses spectrum of diseases. Gorham disease is a rare condition characterized by intraosseous neoplastic proliferation of hemangiomatous tissue with progressive, massive osteolysis. Evolution of osteolysis of the left clavicle caused by gorhamstout disease. Gorham s disease is a rare musculoskeletal disease which causes progressive osteolysis and is characterized by massive bone destruction due to proliferation of vascular elements along with a great. Gorhamstout disease phantom bone of the shoulder girdle.
View the article pdf and any associated supplements and figures for a period of 48 hours. Efficacy of systemic sirolimus in the treatment of. Radiographs of the clavicle produced in february 2004 a, september 2004 b and january 2005 c, showing the rapid evolution of the osteolysis. Gorhams disease is a rare bone disease, is characterized by the proliferation of thinwalled vascular channels associated with regional osteolysis. Gorham disease is a rare condition affecting bones of skeletal system with unknown cause. Gorhams disease is a rare musculoskeletal disease which causes progressive osteolysis and is characterized by massive bone destruction due to proliferation of vascular elements along with a great.
One challenge treating patients with gorhamstout disease located in the spine is secure placement of hardware to stabilize the spine. A chylothorax is present in about onefifth of the patients and carries a poor prognosis. If you have problems viewing pdf files, download the latest version of adobe. Chylothorax complicating gorhams disease the annals of. Gorham disease is characterized by proliferation of the vasculature of the bone in the early stage, followed by gradual osteolysis and fibrous replacement. We describe a case of a 35yearold female of indian origin presented with this rare. Gorham disease is a rare disorder with progressive osteolysis which leads to the vanishing of bones. The primary involvement of the spine is less common 10 % and has been described in only about 20 cases.
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