1/99. 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.- - - - - - - - - - ranking = 1keywords = osteosclerosis, osteopetrosis (Clic here for more details about this article) |
2/99. 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.- - - - - - - - - - ranking = 0.19996850073584keywords = osteosclerosis (Clic here for more details about this article) |
3/99. 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.- - - - - - - - - - ranking = 1.199811004415keywords = osteosclerosis (Clic here for more details about this article) |
4/99. 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.- - - - - - - - - - ranking = 0.19996850073584keywords = osteosclerosis (Clic here for more details about this article) |
5/99. Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.Blomstrand osteochondrodysplasia (BOCD) is a rare, autosomal recessive, lethal skeletal dysplasia characterized by generalized osteosclerosis and advanced skeletal maturation. The histopathological characteristics of three novel cases (two isolated cases and a sib-pair) of BOCD are presented and correlated with the clinical and radiographical findings, and the relevant literature is reviewed. The results of our study confirm the existence of two separate types of BOCD, which we propose naming type I: the severe, 'classical' form, and type II: a less severe form.- - - - - - - - - - ranking = 0.19996850073584keywords = osteosclerosis (Clic here for more details about this article) |
6/99. erdheim-chester disease with intramuscular lipogranuloma.We report on a rare manifestation of erdheim-chester disease with intramuscular lipogranuloma. The patient was a 66-year-old man who noted a soft tissue mass in the right quadriceps femoris muscle. Radiographs revealed symmetrical osteosclerosis in the diametaphysis of both femora and tibiae. An open biopsy revealed a proliferation of lipid-laden histiocytes in the femoral bone marrow and the quadriceps femoris muscle. To our knowledge, this is the second case of erdheim-chester disease involving muscle.- - - - - - - - - - ranking = 0.19996850073584keywords = osteosclerosis (Clic here for more details about this article) |
7/99. sarcoidosis presenting with large vessel vasculitis and osteosclerosis-related bone and joint pain.A 34-year-old African-American female diagnosed earlier with idiopathic thrombocytopenic purpura (ITP), lymphadenopathy, splenomegaly, uveitis, and pulmonary nodules, developed a subclavian artery aneurysm, and generalized annular osteosclerotic lesions with disabling arthralgias. Biopsies from bone and lymph node revealed non-caseating granulomas and no evidence of malignancy or infection, confirming the clinical impression of sarcoidosis.- - - - - - - - - - ranking = 0.79987400294334keywords = osteosclerosis (Clic here for more details about this article) |
8/99. Imaging spectrum in sclerotic myelomas: an experience of three cases.The classic radiographic presentation of multiple myeloma is lytic skeletal lesions. Primary sclerotic manifestations are rare and occur only in 3% of cases. The imaging spectrum in three cases of multiple myeloma with primary osteosclerosis is described. The first patient had spiculated sclerosis of the orbit, which is an uncommon site for myeloma. The second patient with poems syndrome had multiple, scattered, skeletal lesions with sclerotic margins. The third patient presented with a chest wall mass and had an expansile thick spiculated sclerosis in the rib. The wide imaging spectrum possible in sclerotic myelomas and their relevant differential diagnosis is emphasized.- - - - - - - - - - ranking = 0.19996850073584keywords = osteosclerosis (Clic here for more details about this article) |
9/99. 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.- - - - - - - - - - ranking = 0.20004887038378keywords = osteosclerosis, bone disease (Clic here for more details about this article) |
10/99. Concomitant sickle cell disease and skeletal fluorosis.Skeletal fluorosis typically manifests as a diffuse increase in bone density, whereas avascular necrosis of the epiphyses and diaphyseal marrow are the main skeletal manifestations of sickle cell disease. The diagnostic and therapeutic challenges raised when both disorders are present are illustrated by two cases in Senegalese patients from an area characterized by high fluoride contents in the water and soil. Both had SS sickle cell disease. Skeletal fluorosis was diagnosed during evaluation for avascular necrosis in one patient and in the wake of septic arthritis in the other. Femoral head necrosis is difficult to identify in a patient with skeletal fluorosis. The bone lesions due to sickle cell disease and those due to fluorosis can mimic other bone diseases, most notably metastases. The combination of sickle cell disease and fluorosis results in significant medullary canal narrowing due to cortical thickening and to accumulation of necrotic bone. When performing hip replacement surgery, careful reaming of the medullary canal may reduce the risk of iatrogenic femoral fracture and inappropriate stem placement.- - - - - - - - - - ranking = 1.3394941323534E-5keywords = bone disease (Clic here for more details about this article) |
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