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Results for “Exostoses, Multiple Hereditary”

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At least 235 records · Page 13Linked to original sources
PubMed1998

Costal osteochondroma. A rare cause of spinal cord compression.

STUDY DESIGN: Report of a rare cause of spinal cord compression: costal osteochondroma. OBJECTIVE: To describe a very rare cause of spinal cord compression, costal osteochondroma, which was present in a 16-year-old girl with a history of hereditary multiple exostoses. SUMMARY OF BACKGROUND DATA: Only four cases of expansion of costal osteochondroma into the spinal canal through an intervertebral foramen have been reported previously. METHODS AND RESULTS: The origin of the osteochondroma at the head of the right 12th rib, the invasion of the spinal canal through the right T12-L1 intervertebral foramen, and the compression of the spinal cord were shown on computed tomography and magnetic resonance imaging. The exact extent of the osteochondroma, particularly the cartilage cap, was delineated accurately by magnetic resonance imaging. Complete excision followed by full recovery occurred 19 months after surgery. CONCLUSION: Magnetic resonance imaging is the preferred method of investigation in cases of osteochondroma related to spine, because it allows for better pre-operative planning and helps to prevent incomplete excision of the tumor.

Adolescent↗
PubMed2000

Osteochondroma of the C5 lamina with cord compression: case report and review of the literature.

STUDY DESIGN: Case report of a solitary osteochondroma of the cervical spine causing myelopathy in a 66-year-old woman. OBJECTIVES: To review the relevant literature and describe a highly unusual clinical manifestation of solitary osteochondroma. SUMMARY OF BACKGROUND DATA: Osteochondromas are common benign bony lesions that seldom occur in the axial skeleton. These lesions are more commonly reported with neural compression in cases of hereditary multiple exostoses (Bessel-Hagel syndrome, diaphyseal aclasis). METHODS: Chart review, review of relevant radiographic examinations and histopathologic specimens, clinical follow-up with examination, and literature review. RESULTS: Manifestation with new neurologic deficit in a 66-year-old patient was singular. CONCLUSIONS: Osteochondromas are unusual in the axial skeleton, and are rarely signaled by neural compression. Occurrence is generally in young adults in the second and third decades. Initial manifestation with a new neurologic deficit in a 66-year-old patient was highly unusual.

Aged↗
PubMed2004

A rare brachial artery pseudoaneurysm 13 years after excision of a humeral osteochondroma.

Pseudoaneurysms resulting from vascular impingement by osteochondromas are extremely rare. The authors detail the case of a 19-year-old man who represents the third known report in the English literature of a brachial artery pseudoaneurysm associated with a humeral osteochondroma. In patients presenting with a painful upper arm mass and a history of multiple hereditary exostoses, one must have a high index of suspicion for pseudoaneurysm.

Adult↗
PubMedDate not supplied

Imaging of osteochondroma: variants and complications with radiologic-pathologic correlation.

Osteochondroma represents the most common bone tumor and is a developmental lesion rather than a true neoplasm. It constitutes 20%-50% of all benign bone tumors and 10%-15% of all bone tumors. Its radiologic features are often pathognomonic and identically reflect its pathologic appearance. Osteochondromas are composed of cortical and medullary bone with an overlying hyaline cartilage cap and must demonstrate continuity with the underlying parent bone cortex and medullary canal. Osteochondromas may be solitary or multiple, the latter being associated with the autosomal dominant syndrome, hereditary multiple exostoses (HME). Complications associated with osteochondromas are more frequent with HME and include deformity (cosmetic and osseous), fracture, vascular compromise, neurologic sequelae, overlying bursa formation, and malignant transformation. Malignant transformation is seen in 1% of solitary osteochondromas and in 3%-5% of patients with HME. Continued lesion growth and a hyaline cartilage cap greater than 1.5 cm in thickness, after skeletal maturity, suggest malignant transformation. Variants of osteochondroma include subungual exostosis, dysplasia epiphysealis hemimelica, turret and traction exostoses, bizarre parosteal osteochondromatous proliferation, and florid reactive periostitis. Recognition of the radiologic spectrum of appearances of osteochondroma and its variants usually allows prospective diagnosis and differentiation of the numerous potential complications, thus helping guide therapy and improving patient management.

Biopsy↗
PubMed2003

Developmental pathways in musculoskeletal neoplasia: involvement of the Indian Hedgehog-parathyroid hormone-related protein pathway.

There are many crucial genes and signaling pathways in the proper development of an organism. Pathologies may arise from a deregulation of these pathways. The Indian Hedgehog-PTH-related protein (Ihh-PTHrP) pathway is vital in the proper development of endochondral bones, such as the long bones. The Ihh-PTHrP pathway regulates the rate at which chondrocytes within the growth plate proliferate and differentiate. Thus, this pathway allows for the longitudinal growth of bones. However, a disruption in this pathway may lead to enchondromas and osteochondromas, which are both childhood cartilaginous neoplasms. Recently, our lab identified a mutant receptor for PTHrP in enchondroma samples. Mice expressing this mutant receptor and mice with increased Ihh activity develop conditions similar to human enchondromatosis. Linkage analysis shows an association between EXT genes and osteochondromas in hereditary multiple exostoses syndrome. Studies in Drosophila and mice suggest EXT gene products play a role in the diffusion of hedgehog proteins. A mutation in EXT genes may result in an abnormal Ihh diffusion pattern leading to an osteochondroma. There are agents that inhibit Hedgehog signaling. These agents may be useful in the treatment of enchondromas and osteochondromas. This review will discuss the discovery of the Ihh-PTHrP pathway and its involvement in neoplasia, and will suggest possible novel therapeutic agents in the treatment of these cartilaginous neoplasms.

Bone Development↗
PubMed1999

Osteochondroma with compression of the spinal cord. A report of two cases.

We report two cases of vertebral osteochondroma. In one patient a solitary cervical lesion presented as entrapment neuropathy of the ulnar nerve and in the other as a thoracic tumour associated with hereditary multiple exostoses producing paraplegia. We highlight the importance of an adequate preoperative evaluation in such patients.

Adolescent↗
PubMed1999

Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma.

Chondrosarcomas are malignant cartilaginous tumors arising centrally in bone (central chondrosarcoma), or secondarily within the cartilaginous cap of a hereditary or sporadic exostosis (peripheral chondrosarcoma). Loss of heterozygosity (LOH) was studied by microsatellite analysis at the loci harboring the EXT genes (implicated in hereditary multiple exostoses), the EXT-like genes, and at 9p21, 13q14, 17p13, and chromosome 10. Nineteen of 20 peripheral chondrosarcomas showed LOH at all loci tested, while only 3 of 12 central chondrosarcomas exhibited LOH, restricted to 9p21, 10, 13q14, and 17p13. LOH at 9p21 did not appear to involve the CDKN2A gene, as assessed by SSCP analysis. DNA flow cytometry demonstrated a wide variation in the ploidy status in peripheral chondrosarcomas (DNA indexes, 0.56-2.01), whereas central chondrosarcomas were predominantly peridiploid. Near-haploidy found in peripheral chondrosarcomas could explain part of the high LOH percentages. Ki-67 immunohistochemistry suggested a higher proliferation rate in peripheral chondrosarcomas. Our results indicate that peripheral chondrosarcomas, arising secondarily to an exostosis, may obtain genetic alterations during malignant transformation, with subsequent genetic instability as demonstrated by a high percentage of LOH and a wide variation in ploidy status. In contrast, peridiploidy and a low percentage of LOH in central tumors suggest that a different oncogenic molecular mechanism may be operative.

Adolescent↗
PubMed2003

[A rare cause of spinal cord compression: osteochondroma of the thoracic spine. A case report].

Osteochondroma or exostosis is the most common benign tumor of bone, but vertebral involvement is rare. The authors report the case of a 16 years old male with a family history of hereditary multiple exostoses who presented with spinal cord compression. MR examination showed an intraspinal extradural bone lesion at the T1-T2 level, hyperintense on T1 weighted and hypointense on T2 weighted images, causing marked cord deformity. The CT scan showed a tumor of the body and left pedicle of T2 with severe narrowing of the spinal canal.

Adolescent↗
PubMedDate not supplied

Corrective cosmetic supramalleolar osteotomy for valgus deformity of the ankle joint: a report of two cases.

Valgus deformity of the ankle joint can cause pain in walking and a significant gait disturbance because of the altered ankle mechanics and the secondary planovalgus deformity of the foot. A technique of supramalleolar osteotomy that is cosmetically better than a closing wedge osteotomy for correction of this condition is described in two patients with hereditary multiple exostoses. The osteotomy is inherently stable, and minimal or no internal fixation is needed.

Ankle↗