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Results for “EXOSTOSES, MULTIPLE”

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At least 595 records · Page 33Linked to original sources
PubMed2000

Treatment of cervical cord compression, caused by hereditary multiple exostosis, with laminoplasty: a case report.

STUDY DESIGN: Case report. OBJECTIVES: Successful excision of the exostosis within the spinal canal. SUMMARY OF BACKGROUND DATA: Myelopathy caused by exostosis within the spinal canal developed in a 13-year-old boy with hereditary multiple exostosis. METHODS: Spinous process-splitting laminoplasty with an ultrasonic knife was performed to remove the mass and minimize the possibility of postlaminectomy kyphosis. RESULTS: The spinal canal exostosis with cervical cord compression was excised successfully with laminoplasty. After surgery there has been no recurrence of tumor, and the stability of the cervical spine has been preserved. CONCLUSION: This is the first report of laminoplasty as a useful surgical approach for intraspinal exostosis to prevent postoperative cervical instability.

Adolescent↗
PubMedDate not supplied

Wavy pelvis sign in CT of multiple hereditary osteochondromatosis.

We report three patients with multiple hereditary osteochondromatosis with pelvic CT findings indicating the presence of multiple small osteochondromata. Despite normal appearance of plain radiography in these cases, a characteristic wavy appearance of pelvic brim, which has not been described to date, was clearly shown in all three cases. The finding of wavy pelvis may indicate that pelvic osteochondromata are not as rare as indicated by plain radiographic studies and that malignant degeneration in pelvic osteochondromata may be related to their high incidence. One of these patients had an intracapsular hip joint loose body, originating from femoral neck osteochondroma. This complication is previously unreported.

Adult↗
PubMed1990

Hand involvement in multiple hereditary exostosis.

In summary, patients with multiple hereditary exostosis often inherit hand involvement but rarely show hand deformity. The principal area of involvement appears to be around the MCP joint but the PIP joint is the most common area of deformity. Metacarpal shortening usually does not cause functional problems and need not be treated. Angular deformity, though rare, does cause problems and needs surgical treatment. Unfortunately, there is no evidence that prevention of deformity is possible by early excision of osteochondromas. Treatment, therefore, requires both osteochondroma excision and closing-wedge corrective osteotomy.

Adolescent↗
PubMed1993

Secondary chondrosarcoma. Four cases and review of the literature.

The authors present four new cases of chondrosarcoma secondary to multiple osteochondromatosis (MOC). As MOC is a familiar and hereditary condition, the patients should be evaluated throughout their lives, from childhood to adulthood. Because of the risk of malignant transformation in this condition, any adult patient complaining of pain and excessive increase in tumor size should be investigated for sarcomatous degeneration. Wide resection, when possible, must be the elected treatment in this type of patient, in order to avoid the risk of local recurrence.

Adolescent↗
PubMed2002

Novel translocation (9;12)(q22;q24) in secondary chondrosarcoma arising from hereditary multiple exostosis.

We report a new translocation in a patient with a history of hereditary multiple exostosis (HME) who developed a recurrent grade I chondrosarcoma involving the sacrum and retroperitoneum. Karyotypic analysis of the tumor revealed a sole chromosome abnormality t(9;12)(q22;q24.3). To our knowledge, this translocation has not been previously identified in either chondrosarcoma, HME, or related tumor types. Our novel translocation may be related to the sarcomatous degeneration of the pre-existing exostosis.

Adult↗
PubMed2004

Arthroscopic resection of an intra-articular osteochondroma of the knee in the patient with multiple osteochondromatosis.

Osteochondroma is usually located outside of the joint and is asymptomatic. We have witnessed the symptoms of intra-articular osteochondroma of the knee joint and resected it arthroscopically. A 54-year-old woman with multiple osteochondromatosis presented with pain and a click on the right knee. Click was palpable and audible at the lateral aspect of the patellofemoral joint. Arthroscopy revealed that osteochondroma in the anterolateral site of the distal femur impinged the lateral edge of the lateral facets of the patella and the inflammatory change of the lateral capsule of the patellofemoral joint. Arthroscopic resection of this osteochondroma completely eliminated the symptoms. To our knowledge, this is the first report of arthroscopic resection of an osteochondroma in the intra-articular joint.

Arthroscopy↗
PubMed1991

Recurrent dislocation of the peroneal longus tendon as a complication of multiple osteochondromatosis.

This is a report of recurrent dislocation of the peroneal tendon in a patient with multiple osteochondromatosis. The distorted anatomy at the ankle from the osteochondromas was the source of the tendon's recurrent dislocations. There were two areas in the ankle in which the retinacula supporting the tendons failed because of the osteochondromas. At the lateral site of fibula, the origin of the supporting retinacula was attenuated by the presence of an osteochondromas. At the medial site of fibula, a large osteochondroma distorted and widened the tibiofibular joint. The widening of the distal tibiofibular joint by this osteochondromas also attenuated the retinacula of the peroneal tendons, permitting their dislocation.

Ankle Joint↗
PubMed2003

Salvage reconstruction for lateral ankle instability using a tendon allograft.

Lateral ligamentous instability may result after an inversion injury to the ankle. Although it generally responds well to nonsurgical treatment, recurrent cases may warrant surgical intervention. There is extensive literature detailing various procedures designed to restore lateral ankle stability. We describe a case in which a patient had a distal fibulectomy for multiple symptomatic osteochondromas, with reconstruction of the lateral ligament complex using peroneus brevis tendon. The patient subsequently disrupted this surgical construct with a severe inversion injury and had recurrent lateral ankle instability. The lateral ligament complex then was reconstructed using a tibiotalar bone-tendon allograft directed to counteract inversion forces. Fourteen years after the procedure, the patient remains satisfied with a painless, stable ankle. The described technique provides a salvage reconstruction of the lateral ligament complex using allograft tissue, in the unique setting of an absent fibula and deficient peroneus brevis tendon.

Adult↗
PubMed1991

Dedifferentiated chondrosarcoma arising from osteochondromatosis. A case report.

Multiple hereditary osteochondromata has a higher incidence (5%-25%) of malignant change into chondrosarcoma than solitary osteochondroma (1%-2%); but only less than 10% of all chondrosarcomas may undergo dedifferentiated change into fibrosarcoma or malignant fibrous histiocytoma. We have a case presented here with osteochondromatosis who was found to have dedifferentiated chondrosarcoma arising from pelvic osteochondroma. Radical extra-compartmental resection was done and followed by chemotherapy and radiotherapy. Recurrence was found 3 months later. Early recognition of malignant change and adequate surgical resection with adjuvant therapy may prevent local recurrence and increase the survival rate.

Adult↗
PubMed2004

Progressive subluxation of the hip joint in a child with hereditary multiple exostosis.

We describe the treatment and follow-up of a case of hereditary multiple exostosis in a 16-year-old girl, who had intraarticular and extraarticular osteochondromas in the right hip joint which caused hip subluxation. These osteochondromas were excised, the femoral head was located concentrically, and the patient was put in a spica cast for 6 weeks. Six months later, hip magnetic resonance imaging showed no evidence of avascular necrosis. Three years after the operation the patient walked freely, without pain, and there was satisfying coverage of the femoral head. The authors emphasize that careful attention should be given to the surgical technique prior to extraarticular and intraarticular acetabular osteochondroma excision in order to avoid the development of avascular necrosis.

Adolescent↗
PubMedDate not supplied

Development of hip dysplasia in hereditary multiple exostosis.

In approximately 25% of patients with hereditary multiple exostosis, there is an abnormal osteochondral formation localized in the femoral proximal metaphysis. This formation often causes a mechanically progressive insufficiency of the acetabular cavity, a true developmental hip dysplasia, that together with a coxa valga deformity, which is also present, causes a gradual deterioration in the relations of this joint. This malformation has a poor prognosis and is difficult to manage. Although this entity is rather frequent and quite severe, it is rarely found in the medical literature. The author describes six private cases, taken from a total of 24,000 patients (0.25/1000) as examples of this entity, and provides a review of the literature.

Adolescent↗
PubMedDate not supplied

Identification and characterization of a novel member of the EXT gene family, EXTL2.

Recently, two homologous genes, EXT1 and EXT2, with a putative tumor suppressor function have been described. Mutations in both genes are responsible for multiple exostosis syndrome (EXT), an autosomal dominant condition characterized by the presence of multiple osteochondromas, bony excrescences that sometimes undergo malignant transformation to chondrosarcoma. This family of EXT genes has been extended by the identification of an EXT-like (EXTL) gene showing a high degree of homology with the EXT genes. We report here a second EXT-like gene (EXTL2) which is homologous to the EXT and EXTL genes. EXTL2 consists of 5 exons encoding an ubiquitously expressed protein of 330 amino acids. In addition, a putative pseudogene, EXTL2P was also identified. The EXTL2 gene was assigned to chromosome 1p11-p12, whereas EXTL2P was mapped on chromosome 2q24-q31.

Amino Acid Sequence↗
PubMed2006

EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis.

Dysplasia epiphysealis hemimelica (DEH) and metachondromatosis (MC) are considered in the differential diagnosis of solitary and hereditary osteochondromas. Both are rare disorders with DEH demonstrating cartilaginous overgrowth of an epiphysis and MC exhibiting synchronous enchondromas and osteochondromas. Ten cases of DEH and two of MC were compared with osteochondromas at the histological and molecular level. Histologically, clumping of chondrocytes within a fibrillary chondroid matrix is characteristic of DEH, while osteochondromas and MC display the characteristic growth plate architecture. Using cDNA microarray analysis we demonstrate that DEH and MC cluster separately from osteochondromas and growth plates. The EXT genes, involved in the hereditary multiple osteochondromas syndrome, and downregulated in osteochondroma, were normally expressed in DEH and MC as shown by quantitative reverse transcriptase-polymerase chain reaction (qPCR). EXT is involved in heparan sulphate biosynthesis, important for Indian Hedgehog/ParaThyroid Hormone Like Hormone (IHH/PTHLH) growth plate signalling pathways. IHH/PTHLH signalling molecules were expressed in DEH and MC as shown by both qPCR and immunohistochemistry, suggesting that this pathway is active. This is in contrast to osteochondroma, in which PTHLH signalling is downregulated. Thus, lesions of DEH and MC are separate entities from osteochondroma as confirmed by their different cDNA and protein expression profiles. Downstream targets of EXT, which are downregulated in osteochondroma, are expressed in DEH and MC, suggesting that EXT signalling is not disturbed.

Adolescent↗
PubMedDate not supplied

Short rib-polydactyly syndrome: lethal chondrodysplasia associated with brain malformations in a 35-week-gestation infant.

This case report describes the neuropathological findings in an autopsy case of short rib-polydactyly syndrome (SRPS). The patient was a Japanese female neonate who was born at 35 weeks of gestation and died soon after birth due to severe cardiopulmonary insufficiency. Clinical and radiological findings were most consistent with SRPS type I (Saldino-Noonan type). General autopsy findings included situs inversus, persistent truncus arteriosus and endocardial cushion defect, hypoplastic lungs and adrenal glands, and vaginal atresia. Fixed brain weight was 330 g. Three different categories of pathological changes were detected in the brain. These were as follows: (1) multiple cyst formation in the parenchyma, (2) primary malformations of the nervous and mesenchymal tissues, and (3) deposition of an unusual substance in the cerebral white matter. The multiple cysts or cavities in the parenchyma may be due to severe hypoxic-ischemic insults related to the congenital heart anomaly. The primary malformations were summarized as follows: (1) capillary telangiectasia of the pia mater and choroid plexus, (2) olfactory dysplasia with asymmetry, (3) focal cortical dysplasia in the frontal lobe and cerebellum, (4) olivary dysplasia, and (5) enlargement of the posterior part of the lateral ventricle. Dysplastic changes of the nervous tissue can be classified into the group of neuronal migration disorders. Although biochemical properties of the unknown substance were not determined, it is considered to be some product derived from an inborn error of metabolism. Morphological data of SRPS is still scarce, and pathognomonic changes have not yet been elucidated. The present data suggests that coexistence of the nervous and mesenchymal malformations may be highly characteristic of SRPS.

Brain↗
PubMedDate not supplied

Management of forearm deformity in multiple hereditary osteochondromatosis.

The records of 97 patients with multiple hereditary osteochondromatosis were retrospectively reviewed. Seventy-eight patients had one or more osteochondroma(s) of one or both forearm(s). Fifty-three operations were performed, of which 41 were excisions of symptomatic osteochondromas or dislocated radial heads. All forearm, wrist, and elbow radiographs were reviewed. Four common radiographic parameters were measured: radial articular angle, carpal slip, relative ulnar shortening, and forearm-third metacarpal angle. Thirty-seven of these 78 patients were contacted by telephone questionnaire. The results indicated that skeletally mature patients do well on a functional basis and are comfortable with their appearance, despite deformity. Surgery can improve aesthetic appearance and provide pain relief when done before or after skeletal maturity. Because of these results, we are less aggressive in the early treatment of forearm deformities.

Adolescent↗
PubMedDate not supplied

Clinical correlation to genetic variations of hereditary multiple exostosis.

Hereditary multiple exostosis (HME) is an autosomal dominant disorder leading to polyostotic periphyseal osteochondroma formation. These tumorous lesions can cause growth disturbances, painful local symptoms, restriction of joint motion, and neurologic compromise. Malignant transformation has been noted. The reports of the incidence of these complications vary widely in the literature. Recently, genetic lineage mapping disclosed three locations for HME with loci on chromosomes 8, 11, and 19. It is possible that these three genotypes may result in different phenotypic expression of HME and thus explain the variable manifestations of the disease. This study attempts to record the clinical findings of HME patients who have undergone genetic mapping to determine whether varying clinical patterns may exist for each genotype of HME.

Adult↗
PubMed2006

Treatment of multiple hereditary osteochondromas of the forearm in children: a study of surgical procedures.

We have evaluated the clinical outcomes of simple excision, ulnar lengthening and the Sauvé-Kapandji procedure in the treatment of deformities of the forearm in patients with multiple hereditary osteochondromas. The medical records of 29 patients (33 forearms) were reviewed; 22 patients (22 forearms) underwent simple excision (four with ulnar lengthening) and seven the Sauvé-Kapandji procedure. Simple excision increased the mean supination of the forearm from 63.2 degrees to 75.0 degrees (p = 0.049). Ulnar lengthening did not significantly affect the clinical outcome. The Sauvé-Kapandji technique improved the mean pronation from 33.6 degrees to 55.0 degrees (p = 0.047) and supination from 70.0 degrees to 81.4 degrees (p = 0.045). Simple excision may improve the range of movement of the forearm but will not halt the progression of disease, particularly in younger patients. No discernable clinical or radiological improvement was noted with ulnar lengthening. The Sauvé-Kapandji procedure combined with simple excision of osteochondromas can improve stability of the wrist, movement of the forearm and the radiological appearance.

Adolescent↗
PubMed1997

Surgical treatment of wrist deformity in hereditary multiple exostosis.

Wrist deformity represents a unique problematic entity in patients with Hereditary Multiple Exostosis (HME). We report our experience in the treatment of wrist deformities due to HME using three surgical procedures and the outcome of 12 wrist surgical corrections by comparing preoperative, postoperative and last follow-up radiographic values of the carpal slip, radial articular angle and ulnar shortening. Eight out of 12 forearms did show a postoperative improvement of the radiographic parameters, although recurrence of the deformity occurred frequently. Two forearms showed no change in postoperative radiologic parameters. The average age at operation was 13 years, 4 months and the average duration of follow-up was 76.1 months. Prevention and reducing the progression of deformity and functional disability is an important goal in the management of these patients. The type of deformity is the most important factor in deciding the type of surgery to be performed.

Adolescent↗