Cases reported "Hyperostosis"

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11/107. Multiple meningiomas, craniofacial hyperostosis and retinal abnormalities in proteus syndrome.

    Because clinical evidence suggests that proteus syndrome may be caused by a somatic mutation during early development, resulting in mosaicism, the possible types of abnormalities and their clinical distributions are highly variable. Here, we report on an unusual patient with proteus syndrome. Manifestations included multiple meningiomas, polymicrogyria, and periventricular heterotopias. Both eyes had epibulbar cystic lesions. The retina showed diffuse disorganization with nodular gliosis, retinal pigmentary abnormalities, chronic papilledema, and optic atrophy. Other abnormalities included progressive cranial, mandibular, maxillary, and auditory canal hyperostoses, epidermal nevi, and mental deficiency. The limbs were proportionate, and the hands and feet were normal. ( info)

12/107. tooth eruption in a patient with craniometaphyseal dysplasia: case report.

    Craniometaphyseal dysplasia (CMD) is a very rare genetic disorder of bone remodeling caused by osteoclast dysfunction. The clinical and radiographical features of oral findings are presented in a sporadic case of CMD in a child (age 10 years, 7 months). An intraoral examination showed severe malocclusions, including anterior crossbite and deep bite. Furthermore, a radiographic examination showed increased radiopacity of the maxilla and mandibular bones due to hyperostosis and sclerosis of the jaw. There was no root resorption of the canines or molars in the primary dentition, although root formation of the permanent teeth was proceeding. Dental age was calculated to be approximately 1 year, 4 months younger than his chronological age. The eruption speed of the permanent lateral incisors after the gingival emergence was shown to be within normal values, and we discuss whether the canines and premolars in the permanent dentition could erupt or not. ( info)

13/107. Spinal hyperostosis--a rare skeletal manifestation of psoriasis vulgaris.

    A 28-year-old woman with uncomplicated psoriasis vulgaris presented with spinal hyperostosis and osteitis. The absence of peripheral arthritis, sacroiliitis, and diffuse idiopathic skeletal hyperostosis (DISH) raised the possibility that the spinal lesion was an extracutaneous manifestation of psoriasis. We review the association between uncomplicated psoriasis vulgaris and skeletal involvement. ( info)

14/107. Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

    We describe a new familial metabolic bone disease characterized by expanding hyperostotic long bones, early onset deafness, premature tooth loss, and episodic hypercalcemia. The condition affects a mother and daughter studied at the age of 36 years and 11 years, respectively. Both individuals lost all hearing in early childhood and suffered premature shedding of teeth. Skeletal pains began just before puberty. Swelling and aching of most middle phalanges in the hands is an especially troublesome manifestation. The mother also had episodes of symptomatic hypercalcemia first documented in late childhood and subsequently during intercurrent illness and postpartum lactation. Radiographs show hyperostosis and/or osteosclerosis predominantly in the skull and appendicular skeleton. Long bones also are expanded considerably, especially the middle phalanges in the fingers. The mother's skeletal abnormalities are more severe. Biochemical parameters of bone turnover, including serum alkaline phosphatase (ALP) activity, are elevated substantially. In the proposita, dynamic histomorphometry of nondecalcified sections of iliac crest revealed rapid skeletal remodeling. In the mother, who had been treated with bisphosphonates, electron microscopy (EM) showed disorganized collagen bundles as well as necrotic and apoptotic bone cells but no osteocytic osteolysis. measles virus gene transcripts were not detected in peripheral blood monocytes. karyotyping was normal, 46,XX. Hyperphosphatasia with bone disease previously has been reported as either a sporadic or autosomal recessive condition. Expansile skeletal hyperphosphatasia (ESH) is probably inherited as an autosomal dominant trait with a high degree of penetrance. ( info)

15/107. Craniometaphyseal dysplasia: case report.

    Craniometaphyseal dysplasia is a rare genetic bone remodeling disorder characterized by undertubulation of the long bones, especially in the lower extremities, causing deformities of the metaphyses of the long bones, and sclerosis of the skull base or cranial bone hyperostosis. The authors report a case of craniometaphyseal dysplasia in an 8-year-old Brazilian child, emphasizing the importance of precocious diagnosis of this rare genetic disorder. ( info)

16/107. Intracranial low-grade chondrosarcoma with hyperostosis of the skull: a case report.

    We describe a case of intracranial chondrosarcoma in a 46-year-old woman. The preoperative diagnosis was meningioma as plain radiography and computed tomography of the head revealed a tumor with discrete calcifications predominantly in the right frontoparietal region and hyperostosis of the inner table of the skull overlying the tumor. However, the tumor was histologically composed of cartilaginous tissue without meningiomatous differentiation and the final diagnosis was a low-grade chondrosarcoma based on its histological appearance and size, together with the radiologic images. Intracranial chondrosarcoma occurring above the skull base is extremely rare and 19 cases were found in our literature review. Intracranial chondrosarcoma showing hyperostosis of the skull has not been reported in the cases. The discussion includes its differential diagnosis, origin, and clinical behavior. ( info)

17/107. Hypertrophic sustentaculum tali causing a tarsal tunnel syndrome: a case report.

    A case report of tarsal tunnel syndrome caused by a hypertrophic sustentaculum tali is presented. This is the first reported case secondary to this etiology. Complete resolution of the patient's symptoms has been obtained through resection of the hypertrophic anatomy. The authors also discuss possible etiologies of tarsal tunnel syndrome. ( info)

18/107. Stenosis of the cervical canal in craniodiaphyseal dysplasia.

    Craniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression. hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation. We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment. Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders. ( info)

19/107. Primary ectopic meningioma.

    Primary ectopic meningiomas are rare. A case of a 16-year-old male who presented with a large mass in temporofrontal region is reported. X-ray skull showed soft tissue shadow with hyperostosis of frontal and temporal bone. CT scan of brain demonstrated a markedly enhancing lesion and bony hyperostosis with no intracranial component. Total excision of tumour with hyperostotic bone was done. Patient is well without any evidence of recurrence two years after surgery. Relevant literature is reviewed. ( info)

20/107. Diffuse idiopathic skeletal hyperostosis causes artificially elevated lumbar bone mineral density measured by dual X-ray absorptiometry.

    A 76-yr-old man with bilateral total hip arthroplasties was referred for a baseline bone mineral density (BMD) measurement. The L1-L4 lumbar bone density revealed a density above the upper expected value for a young individual (i.e., T-score > 2.5) with large intervertebral variation, while the forearm study revealed an osteoporotic measurement. Lumbar spine radiographs demonstrated abundant, flowing ossification of the anterior spinal ligament, predominantly at L3, consistent with diffuse idiopathic skeletal hyperostosis, which accounted for the increased BMD. ( info)
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