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Gorham's vanishing bone disease is a rare disorder characterized by massive osteolysis. Its etiology is unknown. We report the case of a 14-year-old girl with an unusually aggressive course and extensive involvement originating within the skull base. To our knowledge this pattern has not been described previously. MR findings are discussed.
Gorham's disease is a rare condition characterized by non-malignant proliferation of vascular or lymphatic structures of bone resulting in progressive bony destruction and often extending into surrounding soft tissues. We present two cases of MR imaging findings of Gorham's disease involving the axial and appendicular skeleton with a 10-year follow-up in one patient. MR imaging findings in this entity are reviewed.
A case of Gorham-Stout disease of the shoulder girdle and cervico-thoracic spine in a 65-year-old woman is described. The patient presented with progressive neurologic symptoms, pain, and deformities of the cervico-thoracic spine as well as of her left shoulder following a traumatic shoulder luxation. Since the patient had a history of uterine carcinoma, the current disease was clinically difficult to differentiate from osteolytic metastases. The results of the clinical, radiological and histopathologic examination leading to the diagnosis of Gorham-Stout disease are described. Neither attempted surgery nor radiotherapy produced clinical improvement and the patient died 1 year after the first clinical evaluation.
Familial expansile osteolysis (FEO, MIM174810) is a rare syndrome which was observed world-wide in only three kinships and in two unrelated American individuals. We report a patient with familial expansile osteolysis from the Czech Republic, not related to the previously reported cases. This patient's extraordinary clinical course does not conform to the ordinary. Her radiographic bone involvement was unusually extensive, involving most of the peripheral skeleton and the skull. This case documents that familial expansile osteolysis is not only a disease of adults but does occur in childhood.
The benign vascular tumors of bone represent a diverse group of tumors that can present with a broad spectrum of clinical signs and symptoms. They can also present a significant diagnostic challenge due to their widely variable radiographic imaging and histologic features. Some of the tumors manifest as clearly benign lesions with tissue-specific diagnostic imaging features, while others have non-specific imaging features that may simulate malignant neoplasm. This article will provide a review of the nomenclature and the characteristic radiographic and pathologic features of the benign vascular lesions of bone. The information will aid in improving our diagnostic accuracy and enhance our understanding of the biologic potential of this diverse group of osseous lesions.
We present the case report of a diabetic 51-year-old male, who presented with painless mobilization of the superior incisor teeth. The X-ray study showed osteolysis, without any soft tissue mass, in craniofacial and orbital bones. In the control X-ray studies performed during the 2 years' evolution, a progressive increase in the intensity and extension of the osteolysis was observed. The diagnosis of progressive idiopathic osteolysis is one of exclusion, based mainly on clinico-radiological findings, evolution and compatible histological findings.
Massive osteolysis is a rare condition and is very uncommon in the spine. The MRI appearance of Gorham's disease of the spine has not previously been reported. We present here a case of this condition with imaging details.
A rare case of Gorham's disease affecting the radius in a 46-year-old woman is presented. It was studied by plain radiography, MRI, and scintigraphy, including three-phase radionuclide bone scan and thallium scan. Three-phase bone scan demonstrated slightly decreased activity in the affected portion of the forearm in the early phase, but showed increased activity on the blood pool and delayed imaging. A thallium scan revealed no abnormalities. Histopathologic examination revealed osteoclastic activity and scar tissue with minimal remaining vasculature.
A rare case of massive osteolysis affecting the pelvis of a young girl is presented. The clinical, radiographic, and histopathological features are described in detail. Septicemia complicated the clinical course and the patient eventually died. Histopathological examination of the pelvic lesion revealed massive osteolysis characterized by prominent osteoclastic activity with extensive bone resorption. A thorough post-mortem histological examination of the thyroid gland showed no C cells. This is an interesting observation, since it is known that thyroid C cells are the primary source of calcitonin. Since the main biological effect of calcitonin is to inhibit osteoclastic bone resorption, there is a possibility that massive osteolysis in our case could have been related to the lack of this hormone. There is a clear need for further investigation regarding the role of thyroid C cells and calcitonin in this puzzling disease.
A case of disappearing bone disease of the proximal femur is reported with histopathological and immunohistochemical studies. There was a densely packed cellular tissue, positive to endothelial antibodies, in areas of massive bone destruction. A more differentiated vascular tissue was present where trabecular cancellous or cortical bone was preserved with only focal zones of accelerated bone remodelling. The self-limited course correlates well with two phases of evolution of the histopathological lesions with neoplastic-like proliferation of endothelial cells corresponding to the rapid and massive bone destruction, and a later differentiation of the cells in mature vascular structures, but still with accelerated bone resorption which is partly compensated by appositional activity.
Winchester syndrome was first described in 1969 and since then nine patients have been reported in the literature. The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures of distal phalanges in combination with skin changes. The etiology is unknown. Parental consanguinity supports autosomal inheritance. The diagnosis is based on clinical and radiological manifestations. We describe a case in a 7-year-old Pakistani boy.
One rare case of so-called massive idiopathic osteolysis Gorham-Stout is presented. In a 77-year-old female patient the whole right femoral head and neck of femur was resorbed within 2.5 month following trauma. As a histologic cause for the osteolysis, a marked stimulation of osteoclasts on the spongiosa, especially intracortically, was observed. The course and the clinical findings are described, and the pathogenesis and treatment are discussed in comparison with the present literature. The results suggest that an early antiresorptive therapy (calcitonin, bisphosphonates) could stop the progressive osteolytic changes.
Gorham disease is a rare disorder of unknown etiology characterized by bone destruction and abnormal proliferation of thin-walled vascular channels including lymphatic capillaries. Starting monocentrically in a single bone, the angiomatous masses in this disease extend to adjacent bones and soft tissues without respecting articular barriers. Herein we report a case of Gorham disease with its MR and histopathologic appearance.
Gorham's disease, also called massive osteolysis or vanishing bone disease, is an enigmatic condition caused by endothelial proliferation occurring in bone and soft tissue. Death is frequent when there is spinal or visceral involvement. We present a case of spinal and skull base Gorham's disease that was reversed by radiation therapy administered while the spine was supported by a halo vest. The literature is reviewed.
An aggressive destruction pattern resulting in joint deformation has not been described in skeletal cystic angiomatosis (SCA) so far. We present the case of a 6-year-old boy with such findings strongly resembling Gorham's disease (massive osteolysis). Since the prognosis of the latter entity tends to be less favorable than in SCA, particularly SCA without extraskeletal involvement, careful differentiation of both disorders appears to be important.
We report here an autopsied patient who had died during the clinical course of massive osteolysis (MO), which is a rare chronic disease that begins insidiously and is characterized by progressive regional loss of bone. Since the original description by Gorham and Stout in 1955, vascular proliferation, e.g., hemangiomatosis, has been considered to be the characteristic feature related to the pathogenesis. However, no such vascular changes were observed in the present patient. It was also important to note that a significant number of cases of MO that showed no vascular proliferation have been described previously. Therefore, we consider that vascular proliferation is not always associated with the osteolysis in MO and that the increased vascularity, if any, may be one of the results of the disease rather than the cause.
Idiopathic carpotarsal osteolysis is characterized by gradual lysis and resorption of bones, occurring mainly on hands and feet. It may be sporadic or hereditary and either form can manifest renal involvement. Nephropathy is seen more frequently and is more severe in the sporadic form. We present herein two new cases of unrelated boys with the sporadic form associated with nephropathy. One of the patients had focal segmental glomerulosclerosis. The other patient revealed isolated proteinuria.
We report a 14-year-old boy from Saudi Arabia with the Hajdu-Cheney syndrome who also had bilateral hypoplastic kidneys and chronic renal failure. This report, along with others in the literature, suggest that renal abnormalities, including cystic disease, vesico-ureteral reflux, glomerulonephritis, chronic renal failure, and hypertension, may be an integral part of this syndrome. Recognizing this fact, may help in the early diagnosis, prevention, and treatment of renal failure in these patients.