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PubMed1999

Diaphyseal aclasis affecting the temporomandibular joint.

Diaphyseal aclasis is a rare disorder of bone development in which multiple, cartilagenous exostoses develop and enlarge mainly on the ends of long bones. It has also been described in the vertebral column where it may give rise to spinal cord compression but has not previously been reported as occurring in the jaws. A case is reported in which a patient known to suffer from diaphyseal aclasis at many other anatomical sites displays temporomandibular joint changes which are highly suggestive of the disease now manifesting in the jaws. The presentation, investigations and treatment are described and the literature concerning previous cases of diaphyseal aclasis is reviewed.

Adolescent↗
PubMed2000

Back-scattered electron imaging of a non-vertebral case of hypervitaminosis A in a cat.

We describe a clinical case of hypervitaminosis A in a cat. The main lesions were bony fusions of both the hip and stifle joints, without spinal involvement. A post-mortem study using back-scattered scanning electron microscopy (BEI-SEM) revealed that exostoses had formed around the joints without articular surface involvement. The more recently formed areas of bony proliferation were composed mainly of chondroid tissue surrounded by different degrees of woven bone. As the bony reaction occurred, remodelling of the trabeculae was observed which lead to progressive substitution of chondroid tissue by woven bone surrounded by apposition of lamellar bone. No traces of calcified cartilage were observed in any of the bone sections evaluated.

Animals↗
PubMed2000

Turret exostosis of the thumb.

Eighteen cases of turret exostoses of the hand have been reported, all associated with dorsal injuries. We present a case of turret exostosis involving the volar aspect of the thumb.

Aged↗
PubMedDate not supplied

[Anterior intertrochanteric ossification after total hip arthroplasty].

AIM: Heterotopic paraarticular ossifications are usually identified by an anterior-posterior radiograph of the corresponding hip and are consecutively classified by the well accepted methods of Brooker, Arcq or deLee. In these methods ossifications are solely evaluated by the means of a single a-p radiograph, hence a major part of ossifications located in the anterior intertrochanteric region cannot be evaluated. Our study deals with the incidence of ossifications exclusively verifiable by an axial radiograph. METHOD: In the present study 209 patients' axial radiographs were retrospectively analysed by using our simple method of classification. In the axial projection these ossifications are situated anterior of the intertrochanteric region, therefore we created the term "anterior intertrochanteric ossification (AIO)". After developing a simple topographic scheme we classified these appearances by localisation and size. RESULTS: After total hip arthroplasty by using the transgluteal approach ossifications situated in the anterior intertrochanteric region can develop. These ossifications appear as bone islands, shield or clip like (without fixed connection to the femoral cortical bone) or as solid exostoses. Due to their strict anterior localisation these formations are often solely verifiable by the means of an axial (Lauenstein) radiograph. We were able to identify anterior intertrochanteric ossifications (AIO) in 97 out of 209 patients (48.4 %), 27 patients (13 %) developing an anterior intertrochanteric ossification were classified grade 0 according to the methods of Brooker, Arcq and deLee. CONCLUSION: According to the widely accepted methods of classification of paraarticular ossifications depending on a single a-p radiograph of the corresponding hip, 13 % of paraarticular ossifications would remain undocumented because of their strict anterior intertrochanteric position.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed1984

The Ale-Calo syndrome in monozygotic twins associated with bilateral cryptorchidism--case report.

A case report of identical male twins with the clinical and radiological features of the rare Ale - Calo or M.E.M.R. (Multiple Exostoses - Mental Retardation) or Langer-Giedion's syndrome - is presented. The additional finding of bilateral cryptorchidism in our case is also very rare in twins, and has hitherto not been described in association with the Ale - Calo syndrome. Differential diagnosis is reviewed briefly.

Child↗
PubMedDate not supplied

[Disease picture of dysplasia epiphysealis hemimelica].

Dysplasia epiphysealis hemimelica - an epiphyseal developmental disturbance of the skeleton - is combined with exostose-like, tumor-simulating cartilaginous hypertrophy of bone tissue, mainly located at the epiphyses of the lower extremities and at the tarsal bones. In the case of multiple involvement the unilateral type prevails (hemimele type); within the epiphyses it is mostly the medial part which is undergoing changes. Rare sites are patella, head of the hip bone, shoulder joint, carpalia, more commonly affected are talus as well as other tarsal bones, distal femoral epiphysis and proximal and distal tibial epiphysis. Histologically, dysplasia epiphysealis hemimelica is identical to cartilaginous exostosis. Bone formation is taking place by enchondral ossification (epiphyseal osteochondroma). The ratio between male and female is 3:1. As a rule, this disease becomes manifest in early childhood or adolescence by indolent swellings of the joint region, restricted movement, axis shift, sometimes by differences in the length of the legs. Therapeutic guidelines are not unanimous. On one hand, correction osteotomy is not recommended until the completion of growth, while on the other hand excision of the cartilaginous hypertrophy in early childhood (before the age of 4) is postulated. Since there are less than 100 cases described in literature, another 8 cases of this extremely rare disease are to be presented here.

Adolescent↗
PubMedDate not supplied

[The Haglund exostosis--a surgical indication and a minor intervention?].

From 1946 to 1985 a total of 594 patients with Haglund's disease were treated. 165 of the 266, who had been surgically treated were questioned extensively and 32 of them clinically and radiologically examined. Besides details of indication, surgical technique and perioperative issue, the subjective result as compared with the morphological state after removal of exostoses, was noted particularly. This necessitated the introduction of new X-ray quantification techniques in addition of the procedures described in literature. 73% good, and further 20% acceptable results confirm the indication. Nevertheless the success of the method depends largely on a good surgical technique and especially on the post-operative care.

Adolescent↗
PubMed1981

[Ulno-volar bayonet hand: its differential diagnosis from Madelung's deformity (author's transl)].

The ulno-volar bayonet hand related to the mostly hereditary multiple exostoses is compared to Madelung's forearm deformity under clinical and roentgenological view in differential diagnosis. The ulno-volar bayonet hand is considerably more seldom, basing upon dysplasia of the lower part of the ulna, less inconvenient in function, and hardly tending to the development of early arthrosis.

Adolescent↗
PubMed1998

The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate.

Hereditary multiple exostoses, characterized by multiple cartilaginous tumors, is ascribed to mutations at three distinct loci, denoted EXT1-3. Here, we report the purification of a protein from bovine serum that harbored the D-glucuronyl (GlcA) and N-acetyl-D-glucosaminyl (GlcNAc) transferase activities required for biosynthesis of the glycosaminoglycan, heparan sulfate (HS). This protein was identified as EXT2. Expression of EXT2 yielded a protein with both glycosyltransferase activities. Moreover, EXT1, previously found to rescue defective HS biosynthesis (McCormick, C., Leduc, Y., Martindale, D., Mattison, K., Esford, L. E., Dyer, A. P., and Tufaro, F. (1998) Nat. Genet. 19, 158-161), was shown to elevate the low GlcA and GlcNAc transferase levels of mutant cells. Thus at least two members of the EXT family of tumor suppressors encode glycosyltransferases involved in the chain elongation step of HS biosynthesis.

Amino Acid Sequence↗
PubMedDate not supplied

Ultrastructural abnormalities in cultured exostosis chondrocytes.

Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by inappropriate chondrocyte proliferation and bone growth arising at the juxtaepiphyseal region of the long bones. HME is caused by mutations in the EXT 1 and EXT 2 genes, which have glycosyltransferase activity. These genes are responsible for synthesis of heparan sulfate (HS) chains, which are important signaling molecules in chondrocyte differentiation. HME chondrocytes in monolayer culture have been shown by transmission electron and deconvolution microscopy to contain enormous bundles of actin, cross-linked with muscle specific alpha-actinin. Here additional ultrastructural anomalies in HME chondrocytes are reported, including lobulated nuclei, shortened channels of rER, large numbers of cell processes and podosomes, nontypical junctions, elongated, bulbous-ended mitochondria, and reduced extracellular matrix. Microfilaments are present throughout the cytoplasm, compartmentalizing it, and isolating organelles. The excess microfilaments, attributed to increased cell adhesiveness, are likely to interfere with secretion and cytokinesis, and sterically hinder intracellular organelle differentiation. The observed surface modifications and cytoskeletal abnormalities are proposed to play a role in development of the mutant phenotype, via changes in cell adhesiveness and/or binding of signals to receptors, which results in loss of the unidirectionality of growth in the epiphyseal plate.

Cell Nucleus↗
PubMed2000

The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis.

The D-glucuronyltransferase and N-acetyl-D-glucosaminyltransferase reactions in heparan sulfate biosynthesis have been associated with two genes, EXT1 and EXT2, which are also implicated in the inherited bone disorder, multiple exostoses. Since the cell systems used to express recombinant EXT proteins synthesize endogenous heparan sulfate, and the EXT proteins tend to associate, it has not been possible to define the functional roles of the individual protein species. We therefore expressed EXT1 and EXT2 in yeast, which does not synthesize heparan sulfate. The recombinant EXT1 and EXT2 were both found to catalyze both glycosyltransferase reactions in vitro. Coexpression of the two proteins, but not mixing of separately expressed recombinant EXT1 and EXT2, yields hetero-oligomeric complexes in yeast and mammalian cells, with augmented glycosyltransferase activities. This stimulation does not depend on the membrane-bound state of the proteins.

Animals↗
PubMed1993

The combined tensor fasciae latae/rectus femoris musculocutaneous flap: a possibility for major soft tissue reconstruction in the groin, hip, gluteal, perineal, and lower abdominal regions.

A 57-year-old man, with a long-lasting multiple hereditary cartilaginous exostoses, presented with a progressive tumor growth in the left iliac wing and in the gluteus maximus muscle. An open biopsy revealed a secondary chondrosarcoma, which had developed from an osteochondroma. A wide surgical resection, sparing the inferior limb, was the option for treatment. The fairly constant and reliable vascular anatomy of the lateral circumflex femoral artery, as confirmed by 27 previous anatomical dissections, gave us the opportunity to repair the wide postoperative defect by means of a single, very large flap, combining the vascular territories of the tensor fasciae latae and rectus femoris musculocutaneous flaps. The postoperative period was uneventful, and 1 year after surgery the man had no sign of local recurrence or metastases, and the flap was fully viable without sign of local complication. A functional evaluation was performed on a Kin-Com II dynamometer, showing major impairment of the limb that had undergone surgery. Despite the severe functional disturbance, the man prefers the impaired status to an amputation after a hemipelvectomy.

Abdominal Neoplasms↗
PubMed1996

Operative treatment of subcalcaneal pain.

Twenty of 21 consecutive patients (21 heels) with subcalcaneal pain retractory to conservative treatment managed by resection of the proximal attachment of the plantar fascia and the heel spur, if present, were reviewed retrospectively. The results, at a mean followup of 40 months (range, 12-102 months), using a 100 point scoring system, rated excellent in 8 patients, good in 10, fair in 1, and poor in 1 (90% satisfactory outcome). Time to maximal improvement often was prolonged, yet once reached was maintained over time. The only complication encountered was 1 superficial wound infection. Radiographically it was noted that, despite complete excision, subcalcaneal exostoses often reformed and the fascial transection never did precipitate collapse of the longitudinal arch of the foot. A combination of mucoid and fibrinoid degeneration of the plantar fascia, an acceleration of an age related process, was the principal histopathologic finding. It was concluded that the subcalcaneal pain unresponsive to conservative modalities can be treated effectively by the index procedure. The radiographic and histologic findings of this study suggest that changes within the fascia, rather than the spur, are primarily responsible for the pathogenesis of the syndrome.

Adult↗
PubMed1998

Diseases of the skull in pre-Columbian South American mummies.

OBJECTIVE: The majority of paleopathological investigations focus on the study of the skull. This is because the skull is the most frequently preserved part of the human body recovered from archaeological excavations. From studying the skull, a variety of information can be obtained regarding the individual, such as sex, age, nutritional status, and other disease processes, if present. METHODS: This study represents the examination of more than 700 human skulls recovered from archaeological excavations from the Andean region of southern Peru and northern Chile and dating back more than 8000 years. RESULTS: A variety of skull abnormalities were encountered. The nonmetric variables of Huschke's foramina and palatine tori were common. Cranial deformation was observed in more than 85% of the cases. There were two cases of sagittal synostosis. Iron deficiency anemia resulting in porotic hyperostosis of the skull was evident in certain cultures. Exostoses of the external auditory canal resulting from chronic otitis was evident only among coastal populations. One skull demonstrated a periostitis consistent with Treponema infection. Trephination was encountered only in the skulls from Peru. Fifty-four cases of skull fractures were observed, half of which showed evidence of healing. Finally, only two cases of neoplastic skull lesions were encountered. CONCLUSION: The study of the human skull alone provides a large amount of information regarding the health and diseases of ancient populations.

Adult↗
PubMed2002

Exostosis of the external auditory canal: a technical note.

OBJECTIVE: To describe the author's method of managing occlusive exostosis of the external auditory canal. STUDY DESIGN: Retrospective chart review. SETTING: Tertiary referral ambulatory otology clinic. PATIENTS: A case series of patients treated sequentially by the author over 15 years, all of whom had occlusive external auditory canal exostoses that could not be treated by medical management. INTERVENTION: Permeatal surgical removal of the anterior exostosis only. MAIN OUTCOME MEASURE: Surgical relief of occlusive external auditory canal disease by restoration of hearing and absence of infection with persistence of an external auditory canal and no symptoms of recurrence. RESULTS: A total of 8 men were treated by anterior exostosis removal. Follow-up continued on these patients for a period of 5 to 15 years after the operation, and none showed any evidence of recurrence or tendency to narrowing of the deep ear canal. One patient incurred a tympanic membrane perforation at escostosis surgery that was repaired during the operation. CONCLUSION: Anterior exostosis removal by a permeatal route is a safe, rapid, and effective method of relieving patients of occlusive external auditory canal exostosis. By leaving the posterior exostosis intact, patients are not put at risk for injury to the facial nerve, chorda tympani nerve, or ossicles. When the deep ear canal is drilled blind, there are no landmarks to indicate the true path of the external canal.

Adult↗
PubMed2004

Splitting of the common peroneal nerve by an osteochondroma: two case reports.

Multiple exostoses is an autosomal dominant disease in which bony protuberances arise from the metaphyseal periphery. Most are asymptomatic but occasionally the tumors become troublesome, causing irritation to the surrounding tissues. While nerve compression by an adjacent osteochondroma has been reported, to our knowledge there are no reports of the tumor growing through the mid-substance of a nerve. This article reports two occurrences of an osteochondroma of the proximal fibula that was noted at surgery to grow through the common peroneal nerve, splitting it into two limbs. By reporting these cases, it is our hope to alert surgeons that this problem may occur, and care should be taken to identify the entire nerve prior to removal of the osteochondroma.

Adolescent↗
PubMedDate not supplied

Avascular necrosis of the capital femoral epiphysis in metachondromatosis.

A 6-year-old boy with metachondromatosis, an inherited disorder characterized by multiple enchondromas and exostoses, developed avascular necrosis of the capital femoral epiphysis mimicking Perthes disease. Despite containment, significant coxa magna occurred with flattening and lateral extrusion, requiring intertrochanteric osteotomy and shelf augmentation.

Bone Neoplasms↗