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Diagnostic and Interventional Radiology... Mar 2023Apart from a few case reports, sacroiliac joint (SIJ) involvement in osteochondromatosis has not been studied. We aimed to determine the prevalence and characteristics...
PURPOSE
Apart from a few case reports, sacroiliac joint (SIJ) involvement in osteochondromatosis has not been studied. We aimed to determine the prevalence and characteristics of such involvement using cross-sectional imaging.
METHODS
In this retrospective study, three observers (one junior radiologist and two musculoskeletal radiologists) independently reviewed computed tomography (CT) or magnetic resonance imaging (MRI) of patients in our database who had osteochondromatosis (≥2 osteochondromas across the skeleton) for SIJ involvement. The final decision was reached by the consensus of the two musculoskeletal radiologists in a later joint session.
RESULTS
Of the 36 patients with osteochondromatosis in our database, 22 (61%) had cross-sectional imaging covering SIJs (14 females, 8 males; age range 7-66 years; mean age 23 years; 13 MRI, 9 CT). Of these, 16 (73%) had intra-articular osteochondromas. For identifying SIJ osteochondromas on cross-sectional imaging, interobserver agreement was substantial [κ = 0.67; 95% confidence interval (CI): 0.34, 1.00] between the musculoskeletal radiologists and moderate (κ = 0.59; 95% CI: 0.23, 0.94) between the junior radiologist and the final consensus decision of the two musculoskeletal radiologists. In the cohort with cross-sectional imaging, the anatomical variations of the accessory SIJ (n = 6, 27%) and iliosacral complex (n = 2, 9%) were identified in six different patients with (n = 2) and without (n = 4) sacroiliac osteochondromas.
CONCLUSION
Cross-sectional imaging shows frequent (73%) SIJ involvement in osteochondromatosis, which, although a rare disorder, nevertheless needs to be considered in the differential diagnosis of such SIJ anatomical variants as the accessory SIJ and iliosacral complex. Differentiating these variants from osteochondromas is challenging in patients with osteochondromatosis.
Topics: Male; Female; Humans; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Sacroiliac Joint; Prevalence; Retrospective Studies; Magnetic Resonance Imaging; Osteochondromatosis; Osteochondroma
PubMed: 36988050
DOI: 10.5152/dir.2022.211018 -
Journal of Children's Orthopaedics Dec 2013Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other...
INTRODUCTION
Metachondromatosis is a rare genetic disease of osteochondroma and enchondroma formation, caused by loss of function of the PTPN11 gene. It is distinct from other similar conditions such as multiple osteochondromas and hereditary multiple exostoses by the distribution and orientation of lesions, and pattern of inheritance. Lesions typically occur in hands, feet, femora, tibiae and the pelvis. Lesions are typically reported to regress in adulthood.
METHODS
We reviewed the current literature on metachondromatosis, and present four new cases in a family with metachondromatosis.
RESULTS
Long-term follow up data reveal spontaneous regression of lesions by skeletal maturity. Complications may include nerve palsy due to the mass effect of lesions, avascular necrosis of the femoral head and angular deformity of long bones. Histopathological analysis has demonstrated that lesions in metachondromatosis are a mix of osteochondromas and enchondromas; however, one case of chondrosarcoma has been reported.
CONCLUSION
Lesions associated with metachondromatosis may cause a variety of complications due to mass effects; however, they are often asymptomatic, cause cosmetic concerns and, importantly, most regress spontaneously. Regular clinical review with selective imaging to monitor for such complications is appropriate, but uncomplicated lesions are unlikely to require surgical intervention.
PubMed: 24432109
DOI: 10.1007/s11832-013-0526-3 -
Journal of Comparative Pathology Aug 2023Feline osteochondromatosis is a spontaneous osteocartilaginous exostosis associated with feline leukaemia virus (FeLV) infection or due to a frameshift variant in the...
Feline osteochondromatosis is a spontaneous osteocartilaginous exostosis associated with feline leukaemia virus (FeLV) infection or due to a frameshift variant in the exostosin glycosyltransferase 1 (EXT1) gene. Osteochondromatosis was diagnosed in an indoor-only, 12-year-old, neutered female, Russian Blue cat. Radiographs revealed bilateral calcified proliferations in the elbow, costochondral and sternochondral joints, which distorted the normal skeletal structure. Grossly, the proliferated joints presented with consistent, rounded masses, causing complete ankylosis. The main histopathological finding was an osteocartilaginous proliferation composed of multiple irregular islands of well-differentiated hyaline cartilage surrounded and delimited by osteoid tissue. Immunohistochemistry of the osteochondromas, bone marrow and mediastinal lymph nodes, using a primary anti-FeLV gp70 antibody, and FeLV proviral DNA real-time polymerase chain reaction on bone marrow were negative. Sequencing of exon 6 of the EXT1 gene was performed and nucleotide BLAST analysis demonstrated the absence of a frameshift variant. This study reports the only case of spontaneous feline osteochondromatosis in an animal more than 10 years old.
Topics: Female; Cats; Animals; Leukemia Virus, Feline; Osteochondromatosis; Leukemia, Feline; Exons; Ankylosis; Cat Diseases
PubMed: 37597496
DOI: 10.1016/j.jcpa.2023.07.003 -
Journal of Pediatric Orthopedics 2011Multiple hereditary exostoses, also termed as multiple osteochondromas, is a heritable disorder of connective tissue with primarily orthopaedic clinical manifestations.... (Review)
Review
BACKGROUND
Multiple hereditary exostoses, also termed as multiple osteochondromas, is a heritable disorder of connective tissue with primarily orthopaedic clinical manifestations. Understanding of its biological underpinnings has been advanced on a variety of fronts in recent years.
METHODS
The multifaceted literature regarding osteochondromagenesis and the major clinical challenges in patients with multiple osteochondromas were reviewed.
RESULTS
Consideration of recent advances in molecular biology, biochemistry, and animal modeling of osteochondroma pathogenesis yields a unified model.
CONCLUSIONS
Mechanistic details and therapeutic targets have yet to be elucidated, but the general biology of osteochondroma formation is increasingly clear, as well as its implications in the orthopaedic clinical setting.
Topics: Animals; Exostoses, Multiple Hereditary; Glycomics; Growth Plate; Humans
PubMed: 21654469
DOI: 10.1097/BPO.0b013e31821c7738 -
SAGE Open Medical Case Reports 2022Osteochondroma is the most common bone tumor representing 20%-50% of all benign bone tumors and 10%-15% of all bone tumors. Osteochondroma has similar radiological...
Osteochondroma is the most common bone tumor representing 20%-50% of all benign bone tumors and 10%-15% of all bone tumors. Osteochondroma has similar radiological appearance in both solitary and multiple forms; the latter is an autosomal dominant disorder termed hereditary multiple exostoses. Associated complications of osteochondroma include deformity, fracture, neurovascular compromise, bursa formation, and malignant transformation. Measurement of the cartilage cap thickness is an important index suggesting secondary malignancy of osteochondroma. The upper limit of cap thickness after skeletal maturation is 1.5 cm which can be reliably measured on ultrasound or magnetic resonance imaging. Hereditary multiple exostoses are linked to the mutations of different exostoses genes located on chromosome 8, 11, and 19. We reported cases of two siblings presented with multiple osteochondromas managed by surgical excision. We evaluated their clinical and radiological presentation, genetic correlations and compared with the literature.
PubMed: 35693925
DOI: 10.1177/2050313X221103732 -
Arthroplasty Today Aug 2022Patients with hereditary multiple exostosis develop several benign osseocartilaginous bulge lesions throughout the body. A 62-year-old woman presented for evaluation of... (Review)
Review
Patients with hereditary multiple exostosis develop several benign osseocartilaginous bulge lesions throughout the body. A 62-year-old woman presented for evaluation of worsening left knee valgus deformity, and left knee pain. She had been diagnosed with hereditary multiple exostosis at the age of 12 years. Radiographic evaluation of the left knee revealed exostoses that caused continuous bulges from cortical bone at the metaphyseal regions of the femur and tibia as well as extra-articular deformity. We used patient-specific instrumentation to indicate the direction of the stem into curved metaphyseal bone regions and then corrected the patient's left knee deformity by performing total knee arthroplasty with titanium-constrained prostheses. Soft tissue release was performed with only complete iliotibial band release at a minimum, and stability was obtained.
PubMed: 35789783
DOI: 10.1016/j.artd.2022.04.017 -
Anales de Pediatria (Barcelona, Spain :... Nov 2006
Topics: Child; Exostoses, Multiple Hereditary; Humans; Male; Pedigree
PubMed: 17184612
DOI: 10.1157/13094252 -
Cureus Jul 2021Hereditary multiple exostoses (HME) are an autosomal dominant skeletal disorder characterized by the development of multiple benign osteochondromas (exostoses) that... (Review)
Review
Hereditary multiple exostoses (HME) are an autosomal dominant skeletal disorder characterized by the development of multiple benign osteochondromas (exostoses) that frequently involve long bones of the body. Less commonly, the ribs are a site of involvement, and long-term friction between an exostosis and pleura can produce a hemothorax or pneumothorax. The purpose of this study is to provide a comprehensive review of existing literature on pneumothorax or hemothorax secondary to costal exostosis in HME patients. We reviewed the databases of PubMed and Embase and included data as current as of February 15, 2021. All case reports included cases of hemothorax or pneumothorax in patients with a known personal or family history of HME. After evaluation for inclusion based on eligibility criteria, 18 cases were included. The average age at presentation was 11.7 years (range: 3-32), and most patients were male (83%). Hemothoraces occurred in 15 cases, while pneumothoraces occurred in three cases. All cases were evaluated using chest X-ray and CT scan, and the majority of the cases were treated with surgical resection of the exostosis, either with video-assisted thoracoscopic surgery (VATS; 61%) or thoracotomy (22%). Outcomes were successful with no cases of recurrence after surgical intervention. Although rare, costal exostosis should be considered as a differential in patients presenting with pneumothorax or hemothorax and past medical history or physical exam findings suggestive of HME. Immediate evaluation and surgical intervention to resect costal exostosis are essential to reduce the risk of recurrent life-threatening injury.
PubMed: 34395113
DOI: 10.7759/cureus.16326 -
Medicina 2014
Topics: Child; Exostoses, Multiple Hereditary; Humans; Male; Radiography
PubMed: 24736254
DOI: No ID Found -
Journal of Pediatric Neurosciences 2021Osteoid osteoma is a benign bony pathology. It presents either as a solitary lesion or as multiple lesions with a genetic predisposition. Reported more often in...
Osteoid osteoma is a benign bony pathology. It presents either as a solitary lesion or as multiple lesions with a genetic predisposition. Reported more often in teenagers with thrice more common incidence among boys than in girls, it has a predilection for long bones of lower limbs. Less commonly arising from iliac crest or ribs; it is seen to be further rare to have originated from vertebrae or tarsal/carpal bones. Cranial osteomas are detected either incidentally on imaging or present as a bony hard swelling arising from the skull. Spinal intracanal osteomas are extremely rare to encounter in clinical practice. C in a case of ) presenting with myelopathy is further rare. Less than thirty such cases have been reported so far. We present here a rare case of HME in a 16-year-old boy with compressive myelopathy secondary to intracanal cervical osteoma at C4 Lamina and spinous process. He had a phenotypical expression of hereditary multiple osteomas with a strong family history of inheritance of trait among first-degree male relatives favoring genetic transmission of disease with variable penetrance. All reported cases, to date, are discussed in a tabulated form.
PubMed: 36160610
DOI: 10.4103/jpn.JPN_39_20