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PubMed2002

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). Both traits have previously been mapped to chromosome 1q43-44 (refs 5,6) and, despite the observed clinical variability, share an ancestral haplotype, suggesting a common founder mutation. We describe refinement of the critical region to an interval of roughly 230 kb and identification of deletion and truncation mutations of TBCE in affected individuals. The gene TBCE encodes one of several chaperone proteins required for the proper folding of alpha-tubulin subunits and the formation of alpha-beta-tubulin heterodimers. Analysis of diseased fibroblasts and lymphoblastoid cells showed lower microtubule density at the microtubule-organizing center (MTOC) and perturbed microtubule polarity in diseased cells. Immunofluorescence and ultrastructural studies showed disturbances in subcellular organelles that require microtubules for membrane trafficking, such as the Golgi and late endosomal compartments. These findings demonstrate that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and establish a potential connection between tubulin physiology and the development of the parathyroid.

Amino Acid Sequence↗

PubMed2002

Strontium-89: a novel treatment for a case of osteosclerotic myeloma associated with life-threatening neuropathy.

Osteosclerotic myeloma is a rare disorder characterized by paraproteinaemia and osteosclerosis, and may be associated with a progressive peripheral neuropathy. Patients with widespread osteosclerotic lesions can succumb from neurological complications despite systemic chemotherapy. We present a case of disseminated osteosclerotic myeloma associated with POEMS (peripheral neuropathy, organomegaly, endocrinopathy, M band, skin changes) syndrome, which was complicated by a rapidly progressive, life-threatening neuropathy. The patient's symptoms remained unchanged in the face of combination chemotherapy. However, a substantial improvement was seen following outpatient treatment with the commonly available radioisotope strontium 89 in combination with steroids.

Anti-Inflammatory Agents↗

PubMed2004

[The interesting case -- case no. 65].

Bilateral Osteomyelitis following frontal sinusitis is a rare complication in the antibiotic era. The main risk of a progredient course is mainly the formation of external subperiostal, epidural, subdural abscesses or brain abscesses with potentially life-threatening complications. This is a report on a patient who presented in our department with progredient cephalgia and swelling in the area around the glabella and frontal sinus. Macroscopical examination revealed septum deviation to the right side and nasal polyposis of the right nasal passage. A computed tomography of the paranasal sinuses showed subtotal soft tissue obstruction of all sinuses with the exception of the sphenoidal sinus. Bilateral osteolysis of the ventral osseous borders of the frontal sinus with accompanying osteosclerosis was also observed. The therapy consisted of radical frontal sinus surgery via Unterberger approach. This case demonstrates a rare case of bilateral frontal osteomyelitis together with the necessary diagnostic and therapeutic measures. The management consisted of the removal of all osteomyelitic bone and antibiotic therapy. Differential diagnostic procedures must be carried out in order to exclude orbital and intracranial complications. Regular follow-up examinations and a CT scan of the paranasal sinuses are part of the standard therapy.

Adult↗

PubMedDate not supplied

Bone and joint pathology in fluoride-exposed workers.

Clinical and radiological investigations were performed for 2,258 aluminum workers exposed to fluoride for an average of 17.6 yr (standard deviation = 7.6). Changes in bone and joints were presented in detail in three groups: (1) exposed up to 5 yr (135 cases), (2) exposed from 6-32 yr (1,463 cases), and (3) retired workers (660 cases). A semiquantitative assessment of early fluorosis was introduced. A 20.2% incidence of fluorosis was found, but, according to Roholm, only 1.05% was in stage I. The disease was mainly in the pre-stages of O and OI. A close relationship between the occurrence of fluorosis and the time and degree of fluoride exposure was found. The difficulties in diagnosing skeletal fluorosis result from the questionable sensitivity of the x-ray techniques and from the nonspecificity of the associated symptoms. A quantitative method to assess osteosclerosis and bone structure alteration is needed.

Adolescent↗

PubMed2006

Defining a noncarcinogenic dose of recombinant human parathyroid hormone 1-84 in a 2-year study in Fischer 344 rats.

The carcinogenic potential of human parathyroid hormone 1-84 (PTH) was assessed by daily subcutaneous injection (0, 10, 50, 150 microg/kg/day) for 2 years in Fischer 344 rats. Histopathological analyses were conducted on the standard set of soft tissues, tissues with macroscopic abnormalities, selected bones, and bones with abnormalities identified radiographically. All PTH doses caused widespread osteosclerosis and significant, dose-dependent increases in femoral and vertebral bone mineral content and density. In the mid-and high-dose groups, proliferative changes in bone increased with dose. Osteosarcoma was the most common change, followed by focal osteoblast hyperplasia, osteoblastoma, osteoma and skeletal fibrosarcoma. The incidence of bone neoplasms was comparable in control and low-dose groups providing a noncarcinogenic dose for PTH of 10 microg/kg/day at a systemic exposure to PTH that is 4.6-fold higher than for a 100 microg dose in humans. The ability of PTH to interact with and balance the effects of both the PTH-1 receptor and the putative C-terminal PTH receptor, may lead to the lower carcinogenic potential observed with PTH than reported previously for teriparatide.

Animals↗

PubMed2002

Bone abnormalities in latent TGF-[beta] binding protein (Ltbp)-3-null mice indicate a role for Ltbp-3 in modulating TGF-[beta] bioavailability.

The TGF-betas are multifunctional proteins whose activities are believed to be controlled by interaction with the latent TGF-beta binding proteins (LTBPs). In spite of substantial effort, the precise in vivo significance of this interaction remains unknown. To examine the role of the Ltbp-3, we made an Ltbp-3-null mutation in the mouse by gene targeting. Homozygous mutant animals develop cranio-facial malformations by day 10. At 2 mo, there is a pronounced rounding of the cranial vault, extension of the mandible beyond the maxilla, and kyphosis. Histological examination of the skulls from null animals revealed ossification of the synchondroses within 2 wk of birth, in contrast to the wild-type synchondroses, which never ossify. Between 6 and 9 mo of age, mutant animals also develop osteosclerosis and osteoarthritis. The pathological changes of the Ltbp-3-null mice are consistent with perturbed TGF-beta signaling in the skull and long bones. These observations give support to the notion that LTBP-3 is important for the control of TGF-beta action. Moreover, the results provide the first in vivo indication for a role of LTBP in modulating TGF-beta bioavailability.

Adaptor Proteins, Signal Transducing↗

PubMed1983

Diffuse nonsecretory osteosclerotic myeloma with extensive erythrophagocytosis.

A 51-year-old, black man presented with severe anemia and weakness. X-ray studies showed diffuse osteosclerosis involving most of his skeleton. He was documented to have similar bone changes on x-ray 5 years previously. Peripheral blood findings were suggestive of a myelophthisic anemia. Open biopsy of the iliac bone showed osteosclerotic myeloma. Secretion of abnormal protein could not be demonstrated through many examination of serum or urine. A unique finding at the autopsy was the presence of extensive erythrophagocytosis by the neoplastic plasma cells and macrophages.

Erythrocytes↗

PubMed1999

Erdheim-Chester disease: clinical, radiologic, and histopathologic findings in five patients with interstitial lung disease.

Erdheim-Chester disease is a clinicopathologic entity defined by a characteristic pattern of symmetric osteosclerosis caused by an infiltrate of mononuclear cells that include prominent numbers of foamy histiocytes. About half of patients have extraskeletal manifestations, including involvement of the hypothalamus/posterior pituitary, orbit, retroperitoneum, skin, lung, and heart. Pulmonary involvement is an uncommon but important manifestation of Erdheim-Chester disease because it causes significant morbidity and mortality. A review of the Mayo Clinic files produced four patients with confirmed Erdheim-Chester disease in whom lung biopsy had been performed. One additional patient was included from the University of Pittsburgh. Four patients were women. The mean age was 53.6 years (range 25-70 years). All patients had bilateral and symmetric sclerotic bone lesions characteristic of Erdheim-Chester disease, although in three the skeletal abnormalities were discovered only after lung biopsy. Four patients had dyspnea, and one also had a dry cough. One patient died 17 months after diagnosis. Chest radiographs showed diffuse interstitial infiltrates in all patients, with an upper zone predominance in three. Thoracic computed tomography (CT) scans showed thickening of the visceral pleura and interlobular septa with patchy associated fine reticular and centrilobular opacities and ground glass attenuation. Lung biopsy specimens showed an infiltrate of foamy histiocytes, lymphocytes, and scattered Touton giant cells with associated fibrosis in a striking lymphatic distribution. The infiltrate involved visceral pleura, interlobular septa, and bronchovascular bundles. Immunohistochemical stains were positive for CD68 in all cases and S-100 protein in four cases. Stains for CD1a were consistently negative. Ultrastructural studies in one case showed no Birbeck granules. Although in bone the histologic features of Erdheim-Chester disease may overlap with Langerhans' cell histiocytosis, its expression in the lung is distinct. Lung involvement in Erdheim-Chester disease has emerged as a unique radiographic and histologic entity.

Adult↗

PubMed1978

Osteosclerotic "plasmocytoma" with polyneuropathy, hypertrichosis and diabetes.

The combination of osteosclerosis, polyneuropathy, monoclonal immunoglobulin, hypertrichosis, serositis and a number of other symptoms is described. It seems probable that this is a special type of myeloma. Similar cases have been described in Japan and out findings are compared with the Japanese picture. The age of the patients is unusually low. The M-component in the plasma is small. There is very little Bence Jones protein in the urine and osteolytic lesions in the skull do not seem to have occurred. The polyneuropathy may improve during treatment with cytostatic drugs.

Aged↗

PubMed1980

Osteosclerotic myeloma with polyneuropathy.

Five cases of histologically verified plasma cell myeloma in sclerotic skeletal foci and polyneuropathy are reported. Thirty similar cases were collected from the literature. They illustrate a special form of plasma cell neoplasia. The characteristic features are osteosclerosis, polyneuropathy resembling polyradiculitis, approximately normal hemoglobin concentration, bone marrow smears and ESR, low concentration of M-protein, and absence of Bence-Jones' proteinuria. Slow progesssion of the disease is a possible additional feature. It is hypothesized that autoimmune mechanisms are involved in the pathogenesis. This hypothesis is based on the observation of circulating immune complexes, positive Waaler's reaction and relative increase in the number of circulating B-lymphocytes.

Autoimmune Diseases↗

PubMed1976

Bone mass in maintenance haemodialysis. Prospective study with sequential biopsies.

The change of bone mass during maintenance haemodialysis was studied in 20 patients. Iliac crest biopsies were obtained at a 9 - 16 months interval. Two biopsies were taken in order to give an independent estimate of the sampling error. 22 individuals in the same age group without skeletal disease who died from traffic accidents or from violent deaths were used as controls. Undecalcified sections of bone (Masson-Goldner-stain) were evaluated by micromorphometry. At the beginning of the study osteosclerosis (i.e. volumetric density of bone above x +/- 2 SD in control patients) was found in 14 out of 20 patients. Volumetric density of bone only increased in one of the patients during the observation period. A significant decrease of volumetric density of bone was found in 5 out of 20 patients. This could be attributed to prolonged immobilisation in two cases and to inadequate protein- and calorie-intake in two cases. No predisposing factor could be found in the fifth case. It is concluded that loss of spongy bone mass (osteopenia) is not an invariable result of haemodialysis.

Adult↗

PubMed1977

Tricho-dento-osseous syndrome: a scanning electron microscopic analysis.

A large kindred of which multiple members have the Tricho-dento-osseous syndrome is presented. This is an autosomal dominant disorder characterized by defective enamel, taurodontia, unusually curly hair and occasionally mild to moderate skeletal osteosclerosis. Histologic investigation of teeth (by both LM and SEM) demonstrated that there is a uniformly thin enamel covering with randomly distributed depression and pits. The mineral content of this enamel is closer to that of the underlying dentin, which accounts for its lack of radiographic contrast. The dentin was normal. A bizarre finding is that of a periradicular sheath or membrane that enclosed the open apices and extended partway up the root. It was composed of collagen fiber bundles. The anatomical position of this membrane suggested that it may represent the developing peridontal ligament seen in early tooth formation. Recent embryologic evidence provides support for mesenchymal culpability for all reported features of the syndrome.

Adolescent↗

PubMed1997

Polycystic kidney disease, biliary dysgenesis in a patient with Larsen's syndrome.

Larsen's syndrome is characterised by multiple joint dislocations, flat face and talipes equinovarus. There is an autosomal dominant form and also a more severe autosomal recessive form. Several types of polycystic kidney disease have been reported in children. In this report we present an infant with a severe form of Larsen's syndrome (thought to be lethal Larsen-like), infantile-type polycystic kidney disease, biliary dysgenesis and osteosclerosis.

Abnormalities, Multiple↗

PubMed1996

Dysosteosclerosis.

A 5 1/2 year old boy presented with delayed development and loss of vision. A skeletal survey showed osteosclerosis consistent with dysosteosclerosis. Some unusual features of dysosteosclerosis are discussed.

Bone and Bones↗

PubMed1978

Iatrogenic fluorosis.

A 69-year-old spinster presented with a history of generalised bone pains in September 1977. She was asthmatic and had been treated with 60 mg sodium fluoride and three Calcium Sandoz tablets daily for three years in an attempt to minimize steroid-induced osteoporosis. She was subsequently found to have fluorosis as shown by radiological osteosclerosis in vertebrae and pelvis with histological changes of osteomalacia on bone biopsy and a high bone fluoride content. A trial regimen for osteoporosis which is currently being assessed in various centres includes fluoride along with supplementary calcium and Vit D to prevent the production of osteomalacia which may occur with the fluoride salt alone. The case described here emphasises the potential toxicity of therapeutic dosages of fluoride when prescribed with calcium alone and emphasises the need for careful clinical and biochemical monitoring in all patients receiving therapeutic dosages of fluoride.

Aged↗

PubMed2005

Bone graft and implants in a patient with systemic mastocytosis.

BACKGROUND: Systemic mastocytosis (mast-cell proliferation in various organs, including the skeleton) is a rare disease. Reports on mastocytosis that affects facial bones are few. The bone lesions may be osteolytic or sclerotic. PURPOSE: To describe (for the first time) bone grafting followed by dental implant treatment yielding a good result in a patient with systemic mastocytosis. MATERIALS AND METHODS: A bone graft was performed on a 60-year-old woman with systemic mastocytosis. Dental implant treatment was performed 13 weeks after sclerotic bone of the iliac crest was grafted to the maxillary sinus bilaterally. A microimplant was installed simultaneously with the dental implants and was removed 6 months later for histomorphometric evaluation. Bone biopsy specimens from the donor site of the sclerotic iliac crest and later from the remodeled maxillary bone graft were histologically analyzed. A clinical examination of the patient with regard to her mastocytosis was performed by a dermatologist. The patient was followed up after 3 years. RESULTS: Bone grafting and dental implant treatment were successful, and the patient's clinical and radiologic situation was stable after 3 years. Histologic examination of the bone grafted from the iliac crest showed sclerotic lesions in the bone and a dense infiltration of mast cells. The bone graft seemed to remodel initially in a normal way in the maxillary sinus. However, computed tomography 3 years later showed regions of sclerosis in the remodeled maxillary bone. These lesions now had a pattern similar to the adjacent facial bone. Both the microimplant and the dental implants integrated well. Bone-implant contact measured on the microimplants was 20% higher in this actual case, compared to that of patients previously treated and grafted with the same technique. CONCLUSIONS: There are many clinical implications to be considered when treating this group of patients. Bone grafting, remodeling of the bone, and dental implant installation were successful in this patient with systemic mastocytosis and signs of osteosclerosis. Installation of microimplants in patients with pathologic bone conditions may allow successful dental implant treatment.

Aged↗

PubMed1983

The hand radiograph as a diagnostic discriminant between seropositive and seronegative 'rheumatoid arthritis': a controlled study.

Although traditional teaching emphasises that 70-80% of patients with rheumatoid arthritis have positive serological tests for rheumatoid factor, a review of the evidence suggests that the seronegative group has distinctive characteristics. In a blinded and controlled evaluation of hand and wrist films we correctly identified the serological status of 43 out of 46 patients satisfying the ARA criteria for 'definite RA'. The radiographic appearances of the seronegative group differed significantly from those of the seropositive group in (1) degree of juxtalesional osteosclerosis (p less than 0.001); (2) the relative absence of classical subchondral erosions (p less than 0.001); (3) presence of new bone formation (p less than 0.001); (4) more fusion (p less than 0.001); (5) more asymmetrical joint involvement (p less than 0.001); and (6) predominant carpal involvement (p less than 0.001). The nature of the destructive process, as defined radiologically, may be different in patients with seropositive rheumatoid arthritis from that seen in individuals with so-called 'seronegative rheumatoid arthritis'.

Adult↗

PubMed1973

Quantitative skeletal histology in untreated end-stage renal failure.

Forty-six patients with end-stage renal failure were subjected to iliac crest biopsy before the initiation of a dialysis programme and regardless of the presence of skeletal symptoms. Quantitative studies of undecalcified sections showed osteoporosis in 11 patients, osteosclerosis in 10, and osteomalacia (alone or in combination with other lesions) in 14. Semiquantitative studies showed osteitis fibrosa (alone or in combination with other lesions) in 29. The various abnormalities occurred alone or in combination with one another and, to a large extent, independently of serum biochemistry.Radiological examination failed to diagnose the histological abnormality in 12 of 13 patients with osteomalacia and in 10 of 25 patients with osteitis fibrosa. These abnormalities were commoner in women, in patients with pyelonephritis, and in patients with documented renal failure of long standing. Bone volume changes could not be correlated with any clinical parameters.Skeletal findings in untreated patients should be taken into account when the effects of chronic dialysis or renal transplantation or both are being considered.

Adult↗