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PubMed2007

Osteochondromas and growth retardation secondary to externally or internally administered radiation in childhood.

For over five decades, osteochondromas (exostoses) and associated growth retardation have been known to be caused by radiation damage to the growing skeleton. Patients can be divided into three exposure groups. Group I received external beam radiation therapy primarily for the treatment of childhood cancers (typical dose 3,500 cGy), and 6-20% developed osteochondromas and growth retardation within the radiation portal. Group II consists of recently described patients who received total body irradiation in preparation for bone marrow transplant (typical dose: 800-1,200 cGy), and about 20% developed osteochondromas and growth retardation. Group III consists of 206 German children who in the 1940s and early 1950s received intravenous radioactive Peteosthor (Ra-224) to treat bone tuberculosis (estimated typical dose: 1,000-2,000 cGy), and 14% developed osteochondromas and growth retardation, among other benign and malignant sequelae. Combining these three exposure groups, osteochondromas and growth retardation develop in at least 6-20% of children who receive therapeutic radiation to their growing skeletons.

Bone Development↗
PubMed1996

Skeletal abnormalities of hands and feet in Laurence-Moon-Bardet-Biedl (LMBB) syndrome: a radiographic study.

OBJECTIVE: To identify radiological changes of the hands and feet in a large group of patients with Laurence-Moon-Bardet-Biedl syndrome. DESIGN: Postero-anterior views of hands and feet were obtained and analysed. PATIENTS: The material consists of 43 Scandinavian patients with the syndrome (24 males and 19 females; age 3 weeks to 57 years, median 23 years at the time of radiological examination). RESULTS AND CONCLUSIONS: Polydactyly of the hands and feet is one of the main criteria. This was noted clinically in 33 of 43 patients, but all but 3 had been operated on before this radiological study. Remnants of the extirpated finger or toe noted as exostoses, additional joint surfaces of duplication were found in half the hands and feet, while the remainder showed no radiological changes. Other features found were short, broad bones and flat joint surfaces of the metacarpophalangeal or metatarsophalangeal joints. We also found a high frequency of short or long ulna in relation to the radius and Madelung deformity of the wrist in several patients. Thus, the radiographs showed several non-specific normal variations besides remnants or postoperative changes after polydactyly.

Adolescent↗
PubMed1996

Muscle impingement: MR imaging of a painful complication of osteochondromas.

The purpose of this study was to describe the magnetic resonance (MR) appearance of a newly recognized complication of osteochondromas. Two patients presented with pain and swelling over known osteochondromas. Plain radiographic studies were unrevealing. MR examinations were obtained to characterize the exostoses further and evaluate areas of palpable fullness. Increased signal was present in the muscles on T2-weighted images, which correlated with physical findings and was believed to represent muscle injury due to the osteochondroma. Pain and fullness may result from a number of osteochondroma-related complications, the most worrisome of which is malignant degeneration. Muscular impingement and injury should be considered in the differential diagnosis of pain and swelling in the region of an exostosis. MR imaging allows distinction of this entity, which may be radiographically occult and confused clinically with fracture, bursitis, or malignant degeneration.

Adult↗
PubMed1997

Dedifferentiated chondrosarcoma in patients with multiple osteochondromatosis: report of a case and review of the literature.

Multiple osteochondromatosis (MOS) is a familial disorder of autosomal dominant transmission characterized by the development of multiple exostoses and often derangements of epiphyseal cartilage, sometimes resulting in long bone growth retardation. Patients with the disorder appear to be at increased risk for developing secondary chondrosarcomas. Rarely, dedifferentiated chondrosarcomas may also occur. We report a single case of a 27-year-old man with multiple osteochondromatosis who developed a fatal dedifferentiated chondrosarcoma. Radiographically, the neoplasm arose from the pelvis completely destroying the left pubic ramus. Subsequently, the patient underwent preoperative chemotherapy followed by a left external hemipelvectomy. On pathologic examination, the tumor was characterized by high-grade pleomorphic sarcoma sharply juxtaposed to a low-grade chondrosarcoma. The patient ultimately died of widespread metastatic sarcoma.

Adult↗
PubMed1999

Necrotizing otitis externa caused by Staphylococcus epidermidis.

We present a case of malignant necrotizing otitis externa (MNOE) caused by Staphylococcus epidermidis, which is usually a non-pathogenic microorganism. The patient is an otherwise healthy, nondiabetic 58-year-old white man. Contributory history began in 1994 after surgery for bilateral exostoses of the external auditory canals. Between April 1994 and May 1998 persistent otalgia occurred, with progressive mixed hearing losses, purulent discharge from both ears, spontaneous perforations of the tympanic membranes and ulceration of canal wall skin. From the beginning, Staph. epidermidis was isolated in all but one culture, but was not recognized as the pathological agent because of the presence of other more frequently involved bacteria and fungi. After multiple intravenous and oral antibiotics and antifungal treatments failed, further management involved frequent debridement of both external auditory canals and tympanic membranes, right tympanoplasty, bilateral mastoidectomy, revision tympanomastoidectomies and left modified radical mastoidectomy. Antistaphylococcal therapy including ceftazidime, vancomycin, teicoplanin, clindamycin and rifampicin was tried. Following the modified radical radical mastoidectomy, normalization of the status of his ears took approximately 2 months and has since remained stable to date. His left ear is deaf because of vancomycin administration, while magnetic resonance imaging and gallium scintigraphy have shown persistent inflammation of the skull base.

Aminoglycosides↗
PubMed2006

Pitfalls in paediatric gait disturbances: painless bone diseases.

INTRODUCTION: We describe three boys who were referred for neurological work-up of a tottering gait and in whom we diagnosed bone diseases, namely, Camurati-Engelmann disease, cartilaginous exostoses and a stress fracture as the underlying causes for the gait-disturbances. CONCLUSION: "Non-neurologic disorders" must be considered even if pain is not a leading symptom in gait disturbances.

Adolescent↗
PubMed1999

Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8.

The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the EXT1 gene. We have constructed a contig of cosmid, lambda-phage, PAC, and YAC clones, which covers the entire TRPS I critical region. Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of another patient. As a first step towards a complete inventory of genes in the Langer-Giedion syndrome chromosome region (LGCR) with the ultimate aim to identify the TRPS1 gene, we analyzed 23 human expressed sequence tags (ESTs) and four genes (EIF3S3, RAD21, OPG, CXIV) which had been assigned to human 8q24.1. Our analyses indicate that the LGCR is gene-poor, because none of the ESTs and genes map to the minimal TRPS1 gene region and only two of these genes, RAD21 and EIF3S3, are located within the shortest region of deletion overlap of TRPS II patients. Two genes, OPG and CXIV, which are deleted only in some patients with TRPS II may contribute to the clinical variability of this syndrome.

Child↗
PubMed2005

Syndecan-3: a cell-surface heparan sulfate proteoglycan important for chondrocyte proliferation and function during limb skeletogenesis.

Syndecans are single-pass integral membrane components that serve as co-receptors for growth factors and cytokines and can elicit signal transduction via their cytoplasmic tails. We review here previous studies from our groups on syndecan-3 biology and function in the growth plates of developing long bones in chick and mouse embryos. Gain- and loss-of-function data indicate that syndecan-3 has important roles in restricting mitotic activity to the proliferative zone of growth plate and may do so in close cooperation and interaction with the signaling molecule Indian hedgehog (IHH). Biochemical and protein-modeling data suggest a dimeric/oligomeric syndecan-3 configuration on the chondrocyte's cell surface. Analyses of embryos misexpressing syndecan-3 or lacking IHH provide further clues on syndecan-3/IHH interdependence and interrelationships. The data and the conclusions reached provide insights into mechanisms fine-tuning chondrocyte proliferation, maturation, and function in the developing and growing skeleton and into how abnormalities in these fundamental mechanisms may subtend human congenital pathologies, including osteochondromas in hereditary multiple exostoses syndrome.

Animals↗
PubMed2003

Osteochondroma in the lumbar spinal canal causing sciatic pain: report of two cases.

A search of the English-language medical literature found only two cases in which expansion of an osteochondroma into the lumbar spinal canal caused sciatica. We report another two cases of spinal nerve root compression by solitary lumbar spinal canal osteochondromas: in a 56-year-old man and a 55-year-old woman with no history of hereditary multiple exostoses. Osteochondromas compressing the spinal nerve root were seen at the inferior articular processes of the lumbar vertebrae by computed tomography (CT), three-dimensional reconstruction of CT scans, myelography, and magnetic resonance imaging. The symptoms disappeared after surgical removal of the lesions. Histopathologic examination confirmed the diagnosis of benign osteochondroma.

Female↗
PubMed1993

Central nervous system involvement and generalized muscular atrophy in occipital horn syndrome: Ehlers-Danlos type IX. A first Japanese case.

Occipital horn syndrome (OHS, Ehlers-Danlos syndrome type IX) belongs to the category of the copper metabolism disorders and is at present being investigated biochemically as is Menkes' disease. Unlike Menkes' disease, most patients with OHS have mild submentality. We report a case of OHS with severe central nervous system involvement and muscular atrophy in a 34-year-old male. He had psychomotor retardation and seizures since early childhood and now presented severe mental retardation and generalized muscular atrophy in addition to characteristic facial appearance, hyperelasticity of the skin and joint subluxation. Laboratory investigations revealed a low serum copper and ceruloplasmin level as well as intestinal non-absorption of copper. Radiographic imaging showed occipital exostoses, bladder diverticula, tortuosity of the peripheral vein and osteoporosis of the skeletal bones. The activity of lysyl oxidase, a copper-enzyme involved in cross-link formation in collagen, was found to be decreased in a skin-biopsy specimen. Electron-microscopic investigation of a muscle biopsy showed irregularity of the myofibrillar network and accumulation of concentric laminated bodies in the subsarcolemmal regions.

Adult↗
PubMed1987

Cytogenetics of Mendelian mutations associated with cancer proneness.

About 5% of Mendelian mutations displaying neoplastic tendencies are associated with chromosomal aberrations. The best established examples are retinoblastoma and del(13)(q14) and aniridia-Wilms' tumor and del(11)(p13). Evidence suggests that both mutations behave as dominant traits in the individual and as recessive traits in the cells. DNA analysis indicates that tumorigenesis arises from homozygosisty for the mutant allele at these loci, as a consequence of mitotic nondisjunction or from a mitotic recombination event. An additional argument for this conclusion is provided by the demonstration of duplication of 11p15 in some patients with the Beckwith-Wiedemann syndrome, which is complicated often by Wilms' tumor and other embryonal tumors. Data obtained with molecular probes have shown that also rhabdomyosarcoma and hepatoblastoma arise by homozygosity for a mutant allele at a locus on 11p, suggesting ontogenic relatedness of these tumor types. Additional examples of Mendelian mutations associated with chromosome deletions and neoplasia include Langer-Giedion syndrome with multiple exostoses and del(8)(q24.1), multiple endocrine neoplasia and del(20)(p12.2). While the presence of specific chromosome changes in subjects with high susceptibility to neoplasia does pinpoint the location of DNA sequences involved in the predisposition to certain types of cancers, selected Mendelian mutations associated with chromosome instability and cancer proneness may elucidate biological principles of cell proliferation and transformation. However, our current knowledge of mechanisms resulting in increased frequency of chromosome breakage and cancer susceptibility in ataxia-teleangiectasia, Fanconi's anemia, Bloom's syndrome, and similar conditions are still very incomplete.

Chromosome Aberrations↗
PubMed1993

Biologic and clinical significance of cytogenetic and molecular cytogenetic abnormalities in benign and malignant cartilaginous lesions.

Cartilaginous neoplasms are often histologically and therapeutically challenging. Predicting biologic behavior can be difficult. In this study, 120 nonneoplastic, benign, and malignant cartilaginous lesions from 103 patients were cytogenetically analyzed in a 6-year period after short-term culture. For selected cases, fluorescent in situ hybridization (FISH) techniques using chromosome-specific probes were performed on metaphase/interphase preparations and on paraffin-embedded tissue sections. Clonal abnormalities of chromosomes 2, 3, 5, 7, 8, and 12 were most frequently observed. Involvement of chromosomes 5, 8, and 12 may be etiologically significant because of the gene localizations for the human cartilage link protein, Langer-Giedion syndrome (a rare syndrome characterized by multiple exostoses), and type II collagen (a major component of normal cartilage) respectively, to these three chromosomes. That chromosome 7 abnormalities were observed only in malignant tumors is of diagnostic value. The identity of three marker chromosomes and the significance of trisomy 7 (a finding of controversial meaning), were determined with FISH. That the presence of chromosome aberrations and increasing histologic grade strongly correlated (p = 0.001) is of prognostic importance. Moreover, complex aberrations were observed nearly exclusively in high-grade tumors (p = 0.001). The data show that nonrandom chromosome loci are aberrantly affected in cartilaginous lesions and that these abnormalities may be of significant histopathogenetic consequence. In addition, these chromosome abnormalities appear to be diagnostically and prognostically valuable in classifying and grading chondromatous neoplasms.

Adult↗
PubMed1994

Long-term evaluation of discectomy of the temporomandibular joint.

A clinical and radiographic survey was conducted with 39 patients (39 joints) who had undergone discectomy of the temporomandibular joint between 1965 and 1974 and whose cases had been followed for an average of 20 years after surgery. There were 3 males and 36 females, ranging in age from 16 to 70 years (average, 33 years) at the time of surgery. Masticatory disorders, arthralgia, limitation of condylar movement, and trismus were the chief symptoms, and clicking and crepitus were present in six and two patients, respectively. Plain radiography showed osteoarthritic changes such as osteophyte formation or lipping on the condyles of eight joints. Arthrography showed disc perforations and peridiscal adhesions in 27 patients, and displacement of the disc in eight. All discs were totally extirpated and condylar shaves were performed in eight patients who had disorders such as osteophytes, exostoses, or lipping on the condyles. In follow-up examinations, 37 patients had no pain, but mild arthralgia was noted occasionally in two patients. Postoperatively, no patients experienced subjective masticatory disorders; 38 patients were able to open their mouth more than 35 mm, and crepitus was heard in only two joints. Plain radiography showed bony changes on the condyles and eminences of all joints. From this long-term follow-up study it is concluded that discectomy is a useful operation for treatment of severe disc pathology causing pain and functional disturbance in the temporomandibular joint.

Adolescent↗
PubMedDate not supplied

Childhood peroneal neuropathy from bone tumors.

Nontraumatic childhood peroneal mononeuropathy is uncommon and should initiate a search for surgically correctable causes. In 3 children, 2 age 12 years and 1 age 13 years, unilateral footdrop developed over a few days to a month. Electrodiagnostic findings demonstrated lesions with maximal or exclusive involvement of the deep peroneal nerve. Radiologically, bony exostoses were identified at or near the fibular head in each patient. In 2 patients, the lesions were clinically occult. An osteochondroma was removed from each patient and 2 patients had excellent clinical recoveries.

Adolescent↗
PubMed2005

The people of Jabuticabeira II: reconstruction of the way of life in a Brazilian shellmound.

Sambaquis are huge shellmounds built along almost the entire Brazilian coast between 8000 and 600 years ago. In the present article, 14 osteological markers from 89 individuals excavated at the Sambaqui Jabuticabeira II (2890+/-55/2186+/-60 BP) are analyzed in order to reconstruct the population's health status and way of life. The present palaeopathological findings (such as lower frequency of degenerative joint diseases in legs, as compared to arms, and the rarity of traumas) together with archaeological findings support the idea of nearby resource abundance and infrequent interpersonal competition. The presence of auditory exostoses mainly in males corroborates previous findings indicating the importance of marine resources. The low caries frequency and the high degrees of dental wear point to a diet poor in cariogenic food, and rich in abrasives such as sand, shell fragments and phytoliths. This suggests a broader diet, based on marine protein as well as plants, than previously thought. The etiology of cribra orbitalia could be explained by gastrointestinal parasites or other sources of physiological stress. These parasites, in turn, could have led to higher frequencies of infectious diseases, either by the debilitation of the immune system or by the direct contact with infectious agents. Despite the periods of illness various individuals experienced, the daily life among the builders of the Sambaqui Jabuticabeira II seems to have been relatively easy due to the abundance and predictability of resources and the paucity of violent traumas.

Activities of Daily Living↗
PubMed2003

Unusual presentation of rib exostosis.

We report two cases of unusual presentation of rib exostosis. The first patient presented acutely with hemorrhagic shock due to massive hemothorax, and the second patient presented with repetitive chest infection complicated by empyema. In both patients, preoperative computed tomographic (CT) scan of the chest revealed rib exostoses, necessitating thoracotomy and rib resection.

Adult↗
PubMed2003

Palaeopathological and variant conditions of the Homo heidelbergensis type specimen (Mauer, Germany).

Although early Homo specimens are now known from a number of African, Asian and European Middle Pleistocene sites, the taxon Homo heidelbergensis was initially introduced for the Mauer jaw recovered in 1907. Fossil hominids from the earlier Middle Pleistocene of Europe are very rare and the Mauer mandible is generally accepted as one of the most ancient, with an age of approximately 700 kyr. A new preparation of the mandible was conducted in 1996 and gave rise to the detailed palaeopathological examination which is presented here. Based on comparative analyses, the extreme breadth of the mandibular ramus and its flat intercondylar incision, in conjunction with the flattening and broadening of the coronoid process tip, results either from an idiosyncratic pattern of the course and insertion of the temporalis muscle on the coronoid process or from the temporalis possessing an accessory head. The incidence of periodontal pocketing, together with a vertical reduction of the alveolar margin to approximately 3.00 mm, and a slight protuberance formed in vicinity of the right M(2)can safely be interpreted as pathognomonic indications of periodontal disease. The short distance between the enamel-dentine junction of the teeth and the horizontal alveolar margins could either be an inherited variant or may result from incipient osteoporosis. In addition, an arthrotic condition with slight osteophytic peripheral exostoses and an arthrolit (i.e. an articular calculus or "joint mouse") on the left condylus articularisand a depression in the medial part of the left mandibular condyle extending into the inferior part of the ramus are present. These features are indicative of a trauma-induced osteochondrosis dissecans. The diagnosis therefore suggests that the observed depression results from a well-healed fracture. This traumatic event illustrates the demanding living conditions endured by humans during the European Middle Pleistocene. The variations and pathological conditions observed in Mauer do not question the mandible's role as type specimen for the taxon Homo heidelbergensis.

Alveolar Process↗
PubMed2002

Cytogenetic and molecular cytogenetic evidence of recurrent 8q24.1 loss in osteochondroma.

Osteochondroma most frequently arises sporadically and as a solitary lesion, but may also arise as multiple lesions characterizing the autosomal dominant disorder hereditary multiple exostoses (HME) and the contiguous gene-deletion syndrome, Langer-Giedion syndrome (LGS). Various germline mutations of two putative tumor suppressor genes, EXT1 localized to 8q24.1 and EXT2 localized to 11p11 approximately p12, have been demonstrated in HME families. Constitutional chromosomal deletions or structural rearrangements of 8q24.1 are seen in LGS. Cytogenetic reports of sporadic and hereditary osteochondromas are few, but have revealed loss or structural rearrangements of 8q24.1 in a small number of tumors. In the current study, karyotypic evaluation of 37 osteochondroma specimens (both sporadic and hereditary lesions) revealed chromosomal anomalies of 8q24.1 in 10 specimens (27%). In an effort to determine the presence and frequency of submicroscopic deletions, molecular cytogenetic studies were performed on this same set of tumors utilizing a chromosome 8 specific centromeric probe and an 8q24.1 cosmid probe (locus D8S51, within the minimal LGS deletion region). Loss of the 8q24.1 locus was detected by fluorescence in situ hybridization in 27 of 34 (79%) osteochondroma specimens analyzed including all 10 specimens exhibiting chromosome 8 abnormalities cytogenetically. These findings indicate that a significant subset of osteochondromas harbor genetic aberrations at the EXT1 locus and suggest that loss or mutation of EXT1 plays an important role in the pathogenesis of sporadic as well as hereditary osteochondromas.

Adolescent↗