1/30. association of diffuse idiopathic skeletal hyperostosis (DISH) and calcification and ossification of the posterior longitudinal ligament.Diffuse idiopathic skeletal hyperostosis (DISH) is a common ossifying diathesis in middle-aged and elderly patients characterized by bone proliferation along the anterior aspect of the spine and at extraspinal sites of ligament and tendon attachment to bone. Four patients with DISH revealed extensive calcification and ossification of the posterior longitudinal ligament in the cervical spine. review of cervical spine radiographs in 74 additional patients with DISH demonstrated bony hyperostosis of the posterior aspect of the vertebrae in 41%, posterior spinal osteophytosis in 34%, and posterior longitudinal ligament calcification and ossification in 50%. These ligamentous findings, which have previously been described almost exclusively in Japanese people, appear to be an additional skeletal manifestation of DISH.- - - - - - - - - - ranking = 1keywords = hyperostosis (Clic here for more details about this article) |
2/30. Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?We report a 6 year old boy with multiple fractures owing to bilateral, peculiar, wave-like defects of the tibial corticalis with alternative hyperostosis and thinning. Furthermore, he had Wormian bones of the skull, dentinogenesis imperfecta, and a distinct facial phenotype with hypertelorism and periorbital fullness. collagen studies showed normal results. His sister, aged 2 years, showed the same facial phenotype and dental abnormalities as well as Wormian bones, but no radiographical abnormalities of the tubular bones so far. The mother also had dentine abnormalities but no skeletal abnormalities on x ray. This entity is probably the same as that described in a sporadic case by Suarez and Stickler in 1974. In spite of the considerable overlap with osteogenesis imperfecta (bone fragility, Wormian bones, and dentinogenesis imperfecta), we believe this disorder to be a different entity, in particular because of the unique cortical defects, missing osteopenia, and normal results of collagen studies.- - - - - - - - - - ranking = 0.16666666666667keywords = hyperostosis (Clic here for more details about this article) |
3/30. Pneumosinus dilatans multiplex, mental retardation, and facial deformity.Pneumosinus dilatans is a term used to describe enlargement of one or more paranasal sinuses without radiological evidence of localized bone destruction, hyperostosis, or mucous-membrane thickening. To date, many cases have been reported that involved frontal, ethmoid, sphenoid, and maxillary sinus. However, no case has been reported that involved all paranasal sinuses. Our case involved mastoid air cells as well as all paranasal sinuses. It is named pneumosinus dilatans multiplex by us. This is the first case to be reported in English literature that has this syndromic condition of pneumosinus dilatans multiplex, mental retardation, and facial deformity.- - - - - - - - - - ranking = 0.16666666666667keywords = hyperostosis (Clic here for more details about this article) |
4/30. Autosomal dominant craniometaphyseal dysplasia with atypical features.Craniometaphyseal dysplasia (CMD) is a rare genetic disorder of bone modelling characterised by hyperostosis and sclerosis of the craniofacial bones, and abnormal modelling of the metaphyses. Clinically, autosomal dominant (AD) CMD is characterised by facial distortion and cranial-nerve compression. The goals of surgical treatment for AD CMD are cosmetic recontouring of the sclerotic craniofacial bones, correction of nasal obstruction and correction or prevention of neurological manifestations. We describe the successful correction of AD CMD craniofacial manifestations in an individual with atypical findings, and outline an approach for correcting the craniofacial deformities associated with this rare disorder.- - - - - - - - - - ranking = 0.16666666666667keywords = hyperostosis (Clic here for more details about this article) |
5/30. Orbital inflammatory syndromes with systemic involvement may mimic metastatic disease.physical examination of a 9-year-old girl with a 2-month history of swelling of the left orbit demonstrated an orbital mass, blepharoptosis, and proptosis. Computed tomography revealed a 2 x 3-cm mass in the superior left orbit that expanded orbital dimensions. radiography showed abnormalities in the parietal and frontal bones and distal right tibia. magnetic resonance imaging demonstrated an 8.5-cm abnormality of the marrow space of the right mid-tibia. bone marrow biopsy was unremarkable. Orbital and tibial biopsies showed a nonspecific chronic inflammation. Idiopathic inflammation that involves the orbit (orbital pseudotumor) and that has systemic manifestations may mimic more serious conditions, such as metastases from rhabdomyosarcoma or Ewing sarcoma, chronic recurrent multifocal osteomyelitis (CRMO), and SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis). Accurate diagnosis requires careful clinical and pathologic examinations.- - - - - - - - - - ranking = 0.16666666666667keywords = hyperostosis (Clic here for more details about this article) |
6/30. Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.Gain-of-function mutation in the gene encoding LRP5 causes high bone mass. A 59-year-old woman carrying a novel LRP5 missense mutation, Arg154Met, manifested skeletal disease affecting her oropharynx as well as dense bones, showing that exuberant LRP5 effects are not always benign. INTRODUCTION: Gain-of-function mutation (Gly171Val) of LDL receptor-related protein 5 (LRP5) was discovered in 2002 in two American kindreds with high bone mass and benign phenotypes. In 2003, however, skeletal disease was reported for individuals from the americas and europe carrying any of six novel LRP5 missense mutations affecting the same LRP5 protein domain. Furthermore, in 2004, we described a patient with neurologic complications from dense bones and extensive oropharyngeal exostoses caused by the Gly171Val defect. MATERIALS AND methods: A 59-year-old woman was referred for dense bones. Three years before, mandibular buccal and lingual exostoses (osseous "tori") were removed because of infections from food trapping between the teeth and exostoses. Maxillary buccal and palatal exostoses were asymptomatic. Radiographic skeletal survey showed marked thickening of the skull base and diaphyses of long bones (endosteal hyperostosis). BMD Z scores assessed by DXA were 8.5 and 8.7 in the total hip and L(1)-L(4) spine (both approximately 195% average control), respectively. LRP5 mutation analysis was carried out for the LRP5 domain known to cause high bone mass. RESULTS: Biochemical evaluation excluded most secondary causes of dense bones, and male-to-male transmission in her family indicated autosomal dominant inheritance. PCR amplification and sequencing of LRP5 exons 2-4 and adjacent splice sites revealed heterozygosity for a new LRP5 missense mutation, Arg154Met. CONCLUSIONS: LRP5 Arg154Met is a novel defect that changes the same first "beta-propeller" module as the eight previously reported LRP5 gain-of-function missense mutations. Arg154Met alters a region important for LRP5 antagonism by dickkopf (Dkk). Therefore, our patient's extensive oropharyngeal exostoses and endosteal hyperostosis likely reflect increased Wnt signaling and show that exuberant LRP5 effects are not always benign.- - - - - - - - - - ranking = 0.33333333333333keywords = hyperostosis (Clic here for more details about this article) |
7/30. A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene.In this study, a brother and sister of German origin are described with a possible diagnosis of van Buchem disease, a rare autosomal recessive sclerosing bone dysplasia characterized by a generalized hyperostosis of the skeleton mainly affecting the cranial bones. Clinically, patients suffer from cranial nerve entrapment potentially resulting in facial paresis, hearing disturbances, and visual loss. The radiological picture of van Buchem disease closely resembles sclerosteosis, although in the latter patients, syndactyly, tall stature, and raised intracranial pressure are frequently observed, allowing a differential diagnosis with van Buchem disease. Previous molecular studies demonstrated homozygous loss-of-function mutations in the SOST gene in sclerosteosis patients while a chromosomal rearrangement creating a 52-kb deletion downstream of this gene was found in Dutch patients with van Buchem disease. This deletion most likely suppresses SOST expression. Sclerostin, the SOST gene product, has been shown to play a role in bone metabolism. The two siblings reported here were evaluated at the molecular level by carrying out a mutation analysis of the SOST gene. This resulted in the identification of a novel putative disease-causing splice site mutation (IVS1 1 G-->C) homozygously present in both siblings.- - - - - - - - - - ranking = 0.83333333333333keywords = hyperostosis (Clic here for more details about this article) |
8/30. Digital subtraction angiography in musculoskeletal tumors and other conditions.One hundred and forty consecutive DSA examinations of various musculoskeletal diseases were analyzed with respect to the contributions and/or limits of this modern diagnostic imaging modality. angiography remains the imaging tool of choice for many benign and malignant orthopedic conditions of bones and soft tissues, mainly when MRI is still not generally available. It remains indispensable for embolization and/or local chemotherapy. DSA has the advantage of being less invasive and it also surpasses analog arteriography in better visualization of vascular patterns hidden in hyperostosis, sclerosis, and metallic shadows. Angiographic investigations, when necessary, should therefore start with DSA.- - - - - - - - - - ranking = 0.16666666666667keywords = hyperostosis (Clic here for more details about this article) |
9/30. Chronic urticaria and macroglobulinemia (Schnitzler's syndrome): report of two cases.Two cases of chronic urticaria associated with macroglobulinemia are reported, and the characteristics of 13 other cases are reviewed. This entity was described by Schnitzler in 1974 and has the following characteristics: chronic nonpruritic urticaria with leukocytoclastic vasculitis, bone pains with hyperostosis, intermittent fever, and a monoclonal IgM gammopathy. liver, lymph node, and spleen enlargement may occur. Criteria for the diagnosis of Waldenstrom's disease are lacking (IgM level less than 10 gm/L, no overt lymphoid proliferation in bone marrow). Other immunologic findings (complement, C1 inhibitor, cryoglobulin, rheumatoid factor, antinuclear antibodies) are negative or normal. Evolution is long-term with a long follow-up period. In one case a lymphoplasmocytic lymphoma developed. No adequate treatment has yet been found. Pathogenesis is unclear but seems to be caused by skin deposits of the IgM paraprotein, as attested to by the direct cutaneous immunofluorescent findings in some cases.- - - - - - - - - - ranking = 0.16666666666667keywords = hyperostosis (Clic here for more details about this article) |
10/30. Prostaglandin-induced hyperostosis. A case report.The use of prostaglandin-E1 (PGE1) to maintain patency of the ductus arteriosus in infants with ductal-dependent congenital heart disease is now well established. A 2.5-month-old child with cyanotic heart disease who required long-term PGE1 infusions; developed widespread periosteal reactions during the course of therapy. Prostaglandin-induced subperiosteal hyperostosis should now be considered in the differential diagnosis of neonatal cortical proliferation.- - - - - - - - - - ranking = 0.83333333333333keywords = hyperostosis (Clic here for more details about this article) |
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