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World Journal of Orthopedics Nov 2021Multiple exostoses generally develop in the first decade of life. They most frequently arise from the distal femur, proximal tibia, fibula, and proximal humerus. Costal...
BACKGROUND
Multiple exostoses generally develop in the first decade of life. They most frequently arise from the distal femur, proximal tibia, fibula, and proximal humerus. Costal exostoses are rare, contributing to 1%-2% of all exostoses in hereditary multiple exostoses (HME). They are usually asymptomatic, but a few cases have resulted in severe thoracic injuries. Pneumothorax caused by costal exostoses is rare, with only 13 previously reported cases. We report a new case of pneumothorax caused by costal exostoses.
CASE SUMMARY
A 17-year-old male with HME underwent surgery for removal of exostoses around his right knee. Four months following the operation, he felt chest pain when he was playing the trumpet; however, he did not stop playing for a week. He was referred to our hospital with a chief complaint of chest pain. The computed tomography (CT) scan revealed right pneumothorax and multiple exostoses in his right ribs. The CT scan also revealed visceral pleura thickness and damaged lung tissues facing the exostosis of the seventh rib. We diagnosed that exostosis of the seventh rib induced pneumothorax. Costal exostosis resection was performed by video-assisted thoracoscopic surgery (VATS) 2 wk after the onset. The patient's postoperative course was uneventful, and there was no recurrence of pneumothorax for 2 years.
CONCLUSION
Costal exostoses causing thoracic injuries should be resected regardless of age. VATS must be considered in cases with apparently benign and relatively small exostoses or HME.
PubMed: 34888155
DOI: 10.5312/wjo.v12.i11.945 -
BMJ Case Reports Aug 2019Osteochondroma is the most common type of benign bone tumour. It is a benign chondrogenic lesion derived from aberrant cartilage from the perichondral ring, and it...
Osteochondroma is the most common type of benign bone tumour. It is a benign chondrogenic lesion derived from aberrant cartilage from the perichondral ring, and it commonly presents in the proximal humerus, proximal femur and knee. Osteochondroma is usually solitary but can be multiple with patients with hereditary multiple exostoses. Malignant changes happen in approximately 1% of cases. Osteochondroma usually causes local pain or swelling. We discuss a unique case of an osteochondroma that highlights the fact that osteochondroma can occur in the most unlikely places, and they should be properly visualised via radiography to evaluate any extensions and compromised surrounding structures before surgical intervention.
Topics: Acromioclavicular Joint; Bone Neoplasms; Diagnosis, Differential; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Osteochondroma; Range of Motion, Articular; Tomography, X-Ray Computed
PubMed: 31444263
DOI: 10.1136/bcr-2019-230246 -
Bone Apr 2018The majority of skeletal elements develop via endochondral ossification. This process starts with formation of mesenchymal cell condensations at prescribed sites and... (Review)
Review
The majority of skeletal elements develop via endochondral ossification. This process starts with formation of mesenchymal cell condensations at prescribed sites and times in the early embryo and is followed by chondrogenesis, growth plate cartilage maturation and hypertrophy, and replacement of cartilage with bone and marrow. This complex stepwise process is reactivated and recapitulated in physiologic conditions such as fracture repair, but can occur extraskeletally in pathologies including heterotopic ossification (HO), Ossification of the Posterior Longitudinal Ligament (OPLL) and Hereditary Multiple Exostoses (HME). One form of HO is common and is triggered by trauma, invasive surgeries or burns and is thus particularly common amongst severely wounded soldiers. There is also a congenital and very severe form of HO that occurs in children with Fibrodysplasia Ossificans Progressiva (FOP) and is driven by activating mutations in ACVR1 encoding the type I bone morphogenetic protein (BMP) receptor ALK2. Current treatments for acquired HO, including NSAIDs and local irradiation, are not always effective and can have side effects, and there is no effective treatment for HO in FOP. This review article describes the research path we took several years ago to develop a new and effective treatment for both congenital and acquired forms of HO and specifically, the testing of synthetic retinoid agonists to block the initial and critical chondrogenic step leading to HO onset and progression. We summarize studies with mouse models of injury-induced and congenital HO demonstrating the effectiveness and mode of action of the retinoid agonists, including Palovarotene. Our studies have provided the rationale for, directly led to, an ongoing phase 2 FDA clinical trial to test efficacy and safety of Palovarotene in FOP. Top-line results released a few months ago by the pharmaceutical sponsor Clementia are very encouraging. Given shared developmental pathways amongst pathologies of extraskeletal tissue formation, Palovarotene may also be effective in HME as preliminary in vitro data suggest.
Topics: Animals; Chondrogenesis; Humans; Myositis Ossificans; Ossification, Heterotopic; Osteogenesis; Retinoids; Signal Transduction
PubMed: 28826842
DOI: 10.1016/j.bone.2017.08.010 -
American Journal of Human Genetics Feb 1998Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors...
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses). Besides suffering complications caused by the pressure of these exostoses on the surrounding tissues, EXT patients are at an increased risk for malignant chondrosarcoma, which may develop from an exostosis. EXT is genetically heterogeneous, and three loci have been identified so far: EXT1, on chromosome 8q23-q24; EXT2, on 11p11-p12; and EXT3, on the short arm of chromosome 19. The EXT1 and EXT2 genes were cloned recently, and they were shown to be homologous. We have now analyzed the EXT1 and EXT2 genes, in 26 EXT families originating from nine countries, to identify the underlying disease-causing mutation. Of the 26 families, 10 families had an EXT1 mutation, and 10 had an EXT2 mutation. Twelve of these mutations have never been described before. In addition, we have reviewed all EXT1 and EXT2 mutations reported so far, to determine the nature, frequency, and distribution of mutations that cause EXT. From this analysis, we conclude that mutations in either the EXT1 or the EXT2 gene are responsible for the majority of EXT cases. Most of the mutations in EXT1 and EXT2 cause premature termination of the EXT proteins, whereas missense mutations are rare. The development is thus mainly due to loss of function of the EXT genes, consistent with the hypothesis that the EXT genes have a tumor- suppressor function.
Topics: Chromosome Mapping; Chromosomes, Human, Pair 11; Chromosomes, Human, Pair 19; Chromosomes, Human, Pair 8; DNA Primers; Exons; Exostoses, Multiple Hereditary; Family; Female; Frameshift Mutation; Genes, Tumor Suppressor; Humans; Introns; Male; Mutation; N-Acetylglucosaminyltransferases; Point Mutation; Proteins; Sequence Deletion
PubMed: 9463333
DOI: 10.1086/301726 -
Journal of Clinical Medicine Research Aug 2016We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over...
BACKGROUND
We studied an unusual combination of severe short stature, mesomelia (Leri-Weill dyschondrosteosis syndrome), and multiple exostosis in several family subjects over three generations. The pattern of inheritance was compatible with autosomal dominant.
METHODS
Of 21 affected members over three generations, shortness of stature, associated with mesomelia resembling Leri-Weill dyschondrosteosis syndrome with no exostoses was evident in three family subjects. The rest of the family subjects manifested with normal height, and yet multiple exostoses. In this family, the skeletal manifestations were sufficiently variable for the presentation to be with either short stature or scoliosis, a Madelung' deformity, or with severe hallux valgus associated with exostosis and with Leri-Weill dyschondrosteosis syndrome.
RESULTS
Subjects with structural chromosomal aberrations of the proband IV-7, who manifested with normal height but with multiple exostoses were excluded via 20 CAG-banded mitoses (there were no microdeletions or microduplication after performing Array-CGH-analysis). In addition, DNA examination for subject IV-8 (male cousin of the proband showed short stature and Leri-Weill dyschondrosteosis syndrome) revealed no evidence of SHOX deletions.
CONCLUSION
We described a multigenerational non-consanguineous North African family , in which mesomelic dysplasia, whose clinical and radiological phenotypes resembled dyschondrosteosis, was a prominent feature in three family subjects. Multiple exostoses were evident in several other family subjects (most were with normal height). We would like to emphasize the variability in the phenotypic expression of multiple exostosis, especially the confusion that might arise when the condition appears both clinically and radiologically to be more complicated, and the overall picture might then be overlapped with one of the other bone dysplasias such as Leri-Weill dyschondrosteosis syndrome.
PubMed: 27429682
DOI: 10.14740/jocmr2593w -
Journal of Orthopaedics Jun 2023Exposure to ionizing radiation in patients with Multiple Hereditary Exostoses (MHE) is inevitable and necessary for the diagnosis and treatment of MHE. Radiation...
BACKGROUND
Exposure to ionizing radiation in patients with Multiple Hereditary Exostoses (MHE) is inevitable and necessary for the diagnosis and treatment of MHE. Radiation exposure has many potentially dangerous consequences, including the increased risk of developing cancer. This is especially concerning in the pediatric patient population since children are more likely to develop adverse effects from radiation than adults. This study aimed to quantify radiation exposure over a five-year period among patients diagnosed with MHE since such information is not currently available in the literature.
METHODS
Diagnostic radiographs, computed tomography (CT) scans, nuclear medicine studies, and intraoperative fluoroscopy exposures were analyzed for radiation exposure in 37 patients diagnosed with MHE between 2015 and 2020.
RESULTS
Thirty-seven patients with MHE underwent 1200 imaging studies, 976 of which were related to MHE and 224 unrelated to MHE. The mean estimated MHE cumulative radiation dose per patient was 5.23 mSv. Radiographs related to MHE contributed the most radiation. Patients from the ages of 10- to 24-years-old received the most imaging studies and exposure to ionizing radiation, especially compared to those under age 10 ( = 0.016). The 37 patients also received a total of 53 surgical-excision procedures, with a mean of 1.4 procedures per person.
CONCLUSIONS
MHE patients are exposed to increased levels of ionizing radiation secondary to serial diagnostic imaging, with those ages 10-24 years old being exposed to significantly higher doses of radiation. Because pediatric patients are more sensitive to radiation exposure and are at an overall higher risk, the use of radiographs should always be justified in those patients.
PubMed: 37234093
DOI: 10.1016/j.jor.2023.05.004 -
Iranian Journal of Radiology : a... Jan 2014Coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. A 27-year-old man with hereditary multiple...
Coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. A 27-year-old man with hereditary multiple exostoses is presented as a fourth report. At the age of 15 years, the patient had multiple exostoses around the knee, ankle and shoulder joints. He was diagnosed with ankylosing spondylitis 3 years ago. The patient's sister and his 3 brothers also have multiple exostoses without any family history of spondyloarthropathy or inflammatory arthritis. The aim of this report is to discuss an interesting coexistence of these two diseases. The increasing number of reported patients who have a coexistence of these two diseases might suggest that the association of these two diseases is stronger than a coincidence.
PubMed: 24693299
DOI: 10.5812/iranjradiol.4242 -
World Journal of Orthopedics May 2017The aim of this paper is to report an exceptional case of multiple internal exostoses of the ribs in a young patient affected by multiple hereditary exostoses (MHE)...
The aim of this paper is to report an exceptional case of multiple internal exostoses of the ribs in a young patient affected by multiple hereditary exostoses (MHE) coming to our observation for chest pain as the only symptom of an intra-thoracic localization. A 16 years old patient with familiar history of MHE came to our observation complaining a left-sided chest pain. This pain had increased in the last months with no correlation to a traumatic event. The computed tomography (CT) scan revealed the presence of three exostoses located on the left third, fourth and sixth ribs, all protruding into the thoracic cavity, directly in contact with visceral pleura. Moreover, the apex of the one located on the sixth rib revealed to be only 12 mm away from pericardium. Patient underwent video-assisted thoracoscopy with an additional 4-cm mini toracotomy approach. At the last 1-year follow-up, patient was very satisfied and no signs of recurrence or major complication had occured. In conclusion, chest pain could be the only symptom of an intra-thoracic exostoses localization, possibly leading to serious complications. Thoracic localization in MHE must be suspected when patients complain chest pain. A chest CT scan is indicated to confirm exostoses and to clarify relationship with surrounding structures. Video-assisted thoracoscopic surgery can be considered a valuable option for exostoses removal, alone or in addiction to a mini-thoracotomy approach, in order to reduce thoracotomy morbidity.
PubMed: 28567348
DOI: 10.5312/wjo.v8.i5.436 -
Clinics in Orthopedic Surgery Dec 2020Multiple hereditary exostosis is a common autosomal dominant inherited musculoskeletal disorder that manifests with multiple osteochondromas. The clinical manifestations...
BACKGROUND
Multiple hereditary exostosis is a common autosomal dominant inherited musculoskeletal disorder that manifests with multiple osteochondromas. The clinical manifestations and pathological characteristics of osteochondromas found in the long bone and genetic alterations related to multiple hereditary exostosis have been widely reported. In this study, we investigated the characteristics of brachymetacarpia and brachymetatarsia associated with multiple hereditary exostosis.
METHODS
Of the 133 patients with a diagnosis of multiple hereditary exostosis who were recruited from 2005 to 2018, 101 patients who underwent plain radiography after 10 years of age were included. There were 55 male (54.5%) and 46 female (45.5%) patients. Brachymetacarpia or brachymetatarsia was diagnosed when disruption of the Lièvre parabola connecting the metacarpal or metatarsal heads was observed on plain radiographs. Three orthopedic surgeons individually reviewed hand and foot plain radiographs.
RESULTS
Of the 101 patients, 41 patients (40.6%) had more than 1 brachymetacarpia (88 cases) or brachymetatarsia (81 cases). Among 41 cases, 22 (53.7%) were male and 19 (46.3%) were female. The mean age at the time of radiographic evaluation of the hands and feet was 14.6 years (range, 10-63 years). Shortening was most commonly found in the 3rd and 4th metacarpal or metatarsal bones.
CONCLUSIONS
We found a relatively high incidence of brachymetacarpia and brachymetatarsia in our patients. Physicians should suspect the presence of brachymetacarpia and brachymetatarsia when treating patients with multiple hereditary exostosis.
Topics: Adolescent; Adult; Child; Exostoses, Multiple Hereditary; Female; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Male; Middle Aged; Radiography; Young Adult
PubMed: 33274034
DOI: 10.4055/cios19121 -
Journal of Orthopaedic Research :... Dec 2007Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder with a wide spectrum of clinical manifestations. In 52 out of 60 individuals from HME+...
Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder with a wide spectrum of clinical manifestations. In 52 out of 60 individuals from HME+ families, exostoses became clinically apparent. In this study, the clinical and radiological outcome of these 52 HME patients (19 families) was investigated by medical history, clinical examination, and radiographs. In addition to correlating phenotype with genotype, a linkage/exclusion analysis was performed in 35 HME patients. We found several correlations between HME genes (EXT1, EXT2) and phenotype. Compared to EXT2-linkage, female individuals with EXT1-linkage were smaller in stature. Patients with EXT1-linkage and patients with undetermined linkage (EXT?) were more severely affected, underwent more surgeries, and showed a higher number of exostoses at follow-up. Moreover, we found an increased phenotype risk for limb shortening for EXT1- and EXT?-linkage. This study corresponds to data of other investigators who showed that EXT1 mutations are associated with a more severe phenotype than other EXT forms. (c) 2007 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 25:1541-1551, 2007.
Topics: Adolescent; Adult; Age Factors; Bone and Bones; Child; Child, Preschool; Exostoses, Multiple Hereditary; Female; Genotype; Humans; Infant; Infant, Newborn; Male; N-Acetylglucosaminyltransferases; Phenotype; Prospective Studies; Sex Factors
PubMed: 17676624
DOI: 10.1002/jor.20479