Cases reported "Osteosclerosis"

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1/284. Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.

    We report an apparently previously undescribed form of lethal osteosclerotic skeletal dysplasia in a 30-week male fetus with micromelic shortness of the limbs. Radiographic findings at necropsy included increased density in all bones, most marked in the skull, mandible, and pubis. The ribs were very short, abnormally modeled, and wide anteriorly. The vertebrae were posteriorly hypoplastic and wedged, particularly in the cervical and lumbar regions. The femora and tibiae were short with wide distal metaphyses, undermodeled diaphyses, and coxa vara. The humeri, radii, and ulnae were also short and undermodeled with proximal and distal flare. Chondro-osseous morphology showed short chondrocyte columns, extension of hypertrophic cells into the metaphysis, and overgrowth of perichondral bone. In the resting cartilage there were large chondrocytes containing a homogeneous material staining pink with von Kossa trichrome, gray with toluidine blue, and black with silver methenamine. The cortical bone was lacking and the trabecular bone was hypercellular, thick, and coarse. Ultrastructurally, the resting zone chondrocytes were large and round with condensed chromatin and dilated loops of rough endoplasmic reticulum. The radiographic and histopathologic findings in this case are unique and differ from those seen in other reported lethal osteosclerotic skeletal dysplasias. ( info)

2/284. Autosomal dominant osteosclerosis: report of a kindred.

    Autosomal dominant osteosclerosis (ADO), a rare inherited craniotubular bone disorder, is a generalized hyperostosis that manifests itself as increased cortical thickening of the skull, mandible, metacarpals, metatarsals, long bones, vertebral bodies, ribs, and clavicles. jaw abnormalities, which clinically resemble the widening and deepening of the mandible seen in cherubism, begin in childhood and have been reported to stabilize after puberty. Teeth and alveolar bone are normal. ADO must be distinguished from Van Buchem's disease, which is characterized by elevated serum alkaline phosphatase, neurologic complications, exopthalmos, periosteal excrescences, and an autosomal recessive pattern of inheritance, as well as from other craniotubular bone disorders such as osteopetrosis. We present clinical and radiographic documentation of members of a kindred representing 4 generations affected with ADO. At initial examination of the proband, a differential diagnosis included cherubism, fibrous dysplasia, osteopetrosis, and Paget's disease. Radiographic examination revealed extensive radiopacity of the inferior border and basal bone of the mandible. The proband's clavicles and humerus were also affected. All family members examined were similarly affected and had mandibular and palatal tori. Authors of a previously published report on the dental and dentoalveolar management of patients with craniotubular bone disorders have recommended prophylactic antibiotics to minimize risk of osteomyelitis in all such cases. The members of our kindred received extensive dental treatment before diagnosis, including extractions of severely carious teeth, preprosthetic dentoalveolar surgery, and endodontic therapy; there was no incidence of osteomyelitis or postsurgical complications. Therefore, the use of prophylactic antibiotics may not be warranted in patients with ADO who have otherwise normal medical histories. ( info)

3/284. brain stem infiltration by mixed Langerhans cell histiocytosis and Chester-Erdheim disease: more than just an isolated case?

    Langerhans cell histiocytosis is classically considered as totally different from Chester-Erdheim's disease which consists in the infiltration of various parenchymas by macrophagic CD68-positive histiocytes. We report the case of a 46-year-old woman with a long history of diabetes insipidus who presented typical lesions of Langerhans cell histiocytosis on vulvar and skin biopsies as well as bony cellular infiltrates characteristic of Chester-Erdheim's disease. A few months later she presented cerebellar disorders and died after an 18-month course. At autopsy the pons was enlarged, due to numerous cellular infiltrates which were also scattered in the middle cerebellar pedoncles, dentate nuclei, midbrain and hypothalamus. There were S100-protein positive langerhans cells intermingled with numerous ovoid CD68-positive histiocytes. There are a few reported cases of Chester-Erdheim's disease presenting foci of langerhans cells histiocytosis in other parenchymas. In addition, there are 10 reported cases with diabetes insipidus and bilateral infiltration of the brain stem and cerebellum, considered as presenting either one type of histiocytosis or the other. Our case demonstrates that both histiocytoses may coexist in the brain and thus correspond in fact to the same pathology in certain particular cases. ( info)

4/284. erdheim-chester disease: a case report.

    A 42-year-old man with erdheim-chester disease (EC) is presented. This is the first case of this disease reported in korea. The patient complained of knee pain and plain roentgenogram of the bilateral legs revealed diffusely increased density, coarsened trabecular pattern, and cortical thickening in the diaphysis, and metaphysis as well as epiphysis. magnetic resonance imaging revealed that the lesions showed low signal intensity on T1-weighted images and heterogeneously low and high signal intensity on T2-weighted images. Histological examination of the biopsy specimen showed a xanthogranulomatous lesion consisting aggregations of foamy histiocytes and Touton-type giant cells. Immunohistochemical staining showed positive reaction to anti-S-100 and lysozyme in the cytoplasm of the giant cells. ( info)

5/284. osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

    We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable similarity between our patient and six previously reported infants subsequently categorized as having a distinct entity: Raine syndrome. Autosomal recessive inheritance is postulated based on parental consanguinity in several of the previous cases and in our patient. ( info)

6/284. Dysosteosclerosis: a case with unique dental findings and SEM evaluation of a hypoplastic tooth.

    A ten-year-old boy, who had the typical dental findings of dysosteosclerosis such as yellowish, hypoplastic teeth, retarded eruption, which upon eruption, decayed rapidly, is presented. To date this is the first known case reported with a congenital absence of the first permanent molars. Furthermore, SEM evaluation of the enamel and dentin was performed on a tooth from a patient with dysosteosclerosis for the first time. These studies showed weak ultrastructural compositions due to irregular calcification. ( info)

7/284. Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review.

    We report a female stillborn with typical clinical, radiological, and anatomopathological features of Blomstrand chondrodysplasia. The main findings in this lethal osteochondrodysplasia are osteosclerosis and advanced skeletal maturation. Autosomal recessive inheritance has been proposed because of parental consanguinity of affected siblings in all reported cases, including this one. Histopathological study of the bones confirmed the advanced skeletal maturation radiological features. We also review this rare lethal osteochondrodysplasia. ( info)

8/284. Involvement of the humerus in two generations with spondyloepiphyseal dysplasia.

    Children with spondyloepiphyseal dysplasia present with a disproportionate short stature, platyspondyly, scoliosis, coxa vara, and clubfeet. Extraskeletal manifestations such as retinal detachment and deafness have been reported. The authors report two patients, a mother and her daughter, aged 35 and 6 years, with findings of pseudarthrosislike lesions in the middiaphysis of both humeri. The mother had minimal symptoms that resolved spontaneously, and the child had no symptoms related to these lesions. The radiographs of the mother show complete remodeling of the lesion. The pseudarthrosislike lesion of the humerus may be one of the manifestations of spondyloepiphyseal dysplasia congentia. In time, the bone remodels completely. Because this is a relatively new radiographic finding, the authors suggest performing a radiograph of the humeri in patients with spondyloepiphyseal dysplasia congenita at least once during childhood. ( info)

9/284. Erdheim Chester disease: a rare cause of knee and leg pain.

    A case of Erdheim Chester disease in a 51-year-old Turkish patient is described. Erdheim Chester disease is a rare form of lipoid granulomatosis. knee and leg pain are the most common symptoms, and physicians working in orthopaedics and traumatology are the first to be consulted. Our patient demonstrated a typical bilateral, symmetric sclerosis of the metaphyseal region of long bones of the lower extremity, histologic examination revealed foamy, lipid-loaded histiocytes. The patient also suffered from arterial hypertension, diabetes insipidus and exophthalmos of the left eye. The diagnosis was confirmed by a bone biopsy, and the patient was treated with non-steroidal anti-inflammatory drugs, corticosteroids and vincristine. ( info)

10/284. Invasive aspergillosis presenting as a cavernous sinus mass in immuno competent individuals; report of 3 cases.

    aspergillosis of the cavernous sinus is rare, especially in immuno competent individuals. We report three such cases secondary to paranasal sinus aspergillosis, with imaging findings. ( info)
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