1/30. Severe osteoporosis in familial hajdu-cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up.hajdu-cheney syndrome is an autosomal dominant inherited osteodysplastic bone disease with the hallmarks of acro-osteolysis, skull deformations, and generalized osteoporosis. Very few patients have been followed long-term with respect to the prognosis of acro-osteolysis and osteoporosis. Here we describe a 39-year-old woman and her 19-year-old daughter who are both affected with the hajdu-cheney syndrome. Skeletal lesions were followed in the mother between the ages of 22 and 39 years. The acro-osteolytic lesions progressed markedly and caused shortening of several fingers; some end phalanges had completely disappeared. Severe spinal osteoporosis with serial vertebral fractures was found at the age of 22 years. New vertebral fractures developed until the age of 33 years, but did not progress afterward. High turnover osteoporosis was found in the bone histology of iliac crest biopsies performed at the ages of 22 and 34 years. Bone mineral content (BMC) was strikingly decreased at the age of 34 years (T score -5.1 SD) and did not significantly change during further follow-up. In the daughter, BMC failed to increase between the ages of 12 and 19 years and was also markedly decreased (T score -4.4 SD). This suggests that osteoporosis in hajdu-cheney syndrome is related to a low peak bone mass and a high bone turnover, leading to insufficient bone formation compared with the increased bone resorption.- - - - - - - - - - ranking = 1keywords = bone disease (Clic here for more details about this article) |
2/30. Gorham's disease: a case (including dental presentation) of vanishing bone disease.A case of multicentric vanishing bone disease with maxillofacial involvement in a 4-year-old boy is presented. The clinical and histologic features are described along with the subsequent management of the disease, and the literature concerning this unusual and rare condition is reviewed.- - - - - - - - - - ranking = 5keywords = bone disease (Clic here for more details about this article) |
3/30. hajdu-cheney syndrome with growth hormone deficiency and neuropathy.A hajdu-cheney syndrome is a very rare congenital dysplastic bone disease including acro-osteolysis, short stature, characteristic facies, osteopenia, abnormalities of spine, skull and long bones. A 9 year-old boy presented at our clinic with a chief complaint of short stature and frequent lower respiratory tract infections. He had typical physical and radiographic features of hajdu-cheney syndrome associated with growth hormone (GH) deficiency and peripheral motor neuropathy. To our knowledge, this is the first report describing GH deficiency and neuropathy in hajdu-cheney syndrome.- - - - - - - - - - ranking = 1keywords = bone disease (Clic here for more details about this article) |
4/30. Gorham disease of the orbit.PURPOSE: To report a case of Gorham disease, also known as vanishing bone disease, of the orbit. DESIGN: Interventional case report. methods: A 43-year-old Caucasian woman developed a depression in her left temple, pulsation in her left upper eyelid and temple, and bulging of the left upper eyelid and headache. Computerized tomography revealed a lytic lesion in the roof of the left orbit. RESULTS: Intraoperative examination of the lesion revealed a bony defect in the left orbital roof. Surgical intervention resulted in improvement of her symptoms, and pathology failed to reveal evidence of malignancy or other benign neoplastic process. CONCLUSION: Gorham disease should be considered in the differential diagnosis of lytic bony lesions of the orbit.- - - - - - - - - - ranking = 1keywords = bone disease (Clic here for more details about this article) |
5/30. Vanishing bone disease in a five year old: report of a case and review of the literature.Vanishing bone disease is a rare condition of unknown aetiology. It can affect almost any bone, including those of the maxillofacial region. It is most commonly seen in the second and third decades of life. To the author's knowledge, this is the second case reported in the maxillofacial region of a child within the first decade of life, and the first who survived.- - - - - - - - - - ranking = 5keywords = bone disease (Clic here for more details about this article) |
6/30. Chylotamponade: an unusual presentation of Gorham's syndrome.Gorham's Syndrome, also known as massive osteolysis or "vanishing bone disease" results from lymphangiomatosis with adjacent bone resorption. chylothorax is a common complication in cases of mediastinal involvement. We report a case of Gorham's Syndrome presenting as chylotamponade successfully treated with pericardial drainage, early parenteral nutritional support, bilateral pleurodesis for chylous effusions, and adjuvant external beam radiation.- - - - - - - - - - ranking = 1keywords = bone disease (Clic here for more details about this article) |
7/30. Gorham Stout syndrome (disappearing bone disease): two additional case reports and a review of the literature.Gorham-Stout syndrome, or disappearing bone disease, is characterized by the proliferation of thin-walled vascular channels associated with regional osteolysis. There have been fewer than 150 cases reported in the literature. In this clinical report, we describe 2 additional cases of Gorham-Stout syndrome affecting the maxillofacial skeleton. We provide a review of the clinical diagnosis of this syndrome and describe treatment options.- - - - - - - - - - ranking = 5keywords = bone disease (Clic here for more details about this article) |
8/30. Gorham disease of the spine: a case report and treatment strategies for this enigmatic bone disease.Gorham disease is an extremely rare condition of unknown etiology characterized by progressive osteolysis. Only 28 cases of its spinal involvement have been reported, and some of those cases showed kyphosis, kyphoscoliosis, subluxation or dislocation. No definite regimen of treatment has been established yet. A 10-year-old boy presented with a severe and progressive kyphosis over 90 degrees caused by Gorham disease from T3 to T12. In situ posterior fusion with a hook and rod system and iliac bone grafts were performed, but after surgery, he had complete paraplegia and its cause was uncertain. Based on the unfortunate consequence of the present case and the review of the literature, we propose the treatment strategies for spinal Gorham disease.- - - - - - - - - - ranking = 4keywords = bone disease (Clic here for more details about this article) |
9/30. A case of Gorham's disease with chylothorax treated curatively with radiation therapy.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 disease involves 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.- - - - - - - - - - ranking = 1keywords = bone disease (Clic here for more details about this article) |
10/30. Gorham's disease of the mandible mimicking periodontal disease on radiograph.BACKGROUND: Gorham's disease is a rare disorder characterized by spontaneous and progressive osteolysis of one or more skeletal bones. 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, vanishing bone, or disappearing bone disease. MATERIAL AND methods: A 24-year-old female patient with a previous diagnosis of periodontal disease and progressive mandibular alveolar bone loss was referred to our oral medicine section. The initial radiographic picture showed infrabony defects and horizontal bone loss. RESULTS: After further extensive local and systemic evaluation, including histopathological, laboratory and imagine techniques investigations, the patient was diagnosed to be affected by Gorham's disease. Meanwhile the progression of the osteolytic process had caused the loosening of all the left mandibular teeth and a pathologic fracture. Appropriate medical therapy was successful in stabilizating the resorptive process, with no evidence of further progressive disease. CONCLUSIONS: When Gorham's disease involves the mandible, the role of the periodontologist is extremely important in diagnosing promptly the disorder and preventing the functional and aesthetic consequences of advanced and extensive bone loss. Gorham's disease should be included among the pathologic entities mimicking periodontal disease on radiograph, such as inflammatory disease (e.g. osteomyelitis), endocrine disease (e.g. hyperparathyroidism), intra-osseous malignancies or metastases, lymphoma, histiocytosis X, mainly eosinophilic granuloma, infective process (e.g. tuberculosis and actinomycosis), odontogenic tumours.- - - - - - - - - - ranking = 1keywords = bone disease (Clic here for more details about this article) |
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