1/180. Massive osteolysis of the mandible: report of a case with multifocal bone loss. Osteolysis of the jaws has been reported in association with infection, cysts, neoplasia, and metabolic, endocrine, or hematologic abnormalities. Rare cases of idiopathic osteolysis have also been recorded. We report the case of a 10-year-old girl with mandibular basal and alveolar bone resorption that has continued over a period of 9 years. The patient has subsequently developed bilateral resorption of the ascending rami and condyles. The maxilla is uninvolved. Investigations included radiology, computerized tomography, scintigraphy, hematology, serum chemistry, endocrinology, histopathology, microbiology, and immunology. Neutrophil chemotaxis, chemiluminescence, and random migration values were low but within the normal range. These findings are interpreted as indicating an unusual variant of massive osteolysis. ( info) |
2/180. Acropathia ulcero-mutilans acquisita of the upper limbs. We report an 80-year-old woman with a bilateral mutilating acro-osteolysis of the fingers progressing over a period of 3 years. As the patient refused nerve or muscle biopsies, our diagnosis of acropathia ulcero-mutilans acquisita or Bureau-Barriere syndrome, characterized by osteolysis, remains hypothetical. Sporadic sensory mutilating acropathy of the upper limbs is rare, and we discuss the differential diagnosis. ( info) |
| 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. ( info) |
4/180. 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. ( info) |
5/180. Gorham syndrome: anaesthetic management. Gorham syndrome is a rare chronic disease of children and young adults, featuring massive osteolysis with pathological fractures and complicated by respiratory and neurological deficits. To date, 175 cases have been reported in the literature but information on anaesthetic management is sparse. We present a child with Gorham syndrome who underwent urgent surgical medullary decompression and who subsequently developed bilateral pleural effusions. ( info) |
6/180. Idiopathic multicentric osteolysis with nephropathy. Idiopathic multicentric osteolysis is a rare syndrome that manifests with progressive loss of carpal and tarsal bones in childhood. Affected children have arthritic-like episodes, followed by progressive deformities, radiographic osteolytic changes, and variable degrees of disability. A rare form of this disease (type III, sporadic) is associated with serious nephropathy. We present the first reported case of type III idiopathic multicentric osteolysis in a Chinese woman. The patient, a 34-year-old woman with normal mental development and no family history of bone or kidney disease, presented with a 4-day history of nausea and vomiting. She had shortening and swelling of the hands, which had occurred in childhood and persisted at the time of admission. X-ray studies showed disappearance of the carpal bones, and multiple osseous erosions of the tarsal bones. hypertension, severe azotemia, and metabolic acidosis were also noted. Advanced renal disease was documented after a series of investigations, including renal biopsy. She is now dialysis-dependent. This case illustrates the importance of early diagnosis and management of idiopathic multicentric osteolysis with nephropathy. ( info) |
7/180. The Gorham-Stout syndrome (Gorham's massive osteolysis). A report of six cases with histopathological findings. The Gorham-Stout Syndrome (Gorham's massive osteolysis) is a rare condition in which spontaneous, progressive resorption of bone occurs. The aetiology is poorly understood. We report six cases of the condition and present evidence that osteolysis is due to an increased number of stimulated osteoclasts. This suggests that early potent antiresorptive therapy such as with calcitonin or bisphosphonates may prevent local progressive osteolysis. ( info) |
8/180. Desmoid tumors in a woman with idiopathic multicentric osteolysis: result of three etiologic factors or coincidence? Desmoid tumors developed on the toes of a young woman with idiopathic multicentric osteolysis (IMO) after amputation of the toenails. A summary of IMO is given, and a review of literature for the etiologic factors of desmoid tumors is added. ( info) |
| 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. ( info) |
10/180. progeria infantum (Hutchinson-Gilford syndrome) associated with scleroderma-like lesions and acro-osteolysis: a case report and brief review of the literature. progeria infantum (Hutchinson-Gilford syndrome) is a very rare syndrome of premature aging characterized by growth retardation and specific, progressive, premature senescent changes of the skin and other tissues. We report a 1.5-year-old girl with loss of scalp hair, eyebrows, and lashes, prominent scalp veins, micrognathia, abnormal ears, loss of subcutaneous tissue, and scleroderma-like areas over the trunk. Radiographic studies revealed coxa valga and acro-osteolysis of the terminal phalanges. The clinical and radiologic features corresponded well with progeria infantum. ( info) |