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Journal of Clinical and Diagnostic... Aug 2013Multiple maxillary and mandibular exostoses are common localized overgrowths of the bone. They are non-neoplastic and are thought to be reactive or developmental in...
Multiple maxillary and mandibular exostoses are common localized overgrowths of the bone. They are non-neoplastic and are thought to be reactive or developmental in origin. These exostoses need to be accurately distinguished from the other more diagnostically significant lesions, notably from the exosteal osteomas. The aetiology of exostosis has been investigated by different authors, but no consensus has been reached so far. We are reporting a rare case of an otherwise healthy 38 year old female with multiple exostoses in the mandibular anterior region, which correlated both clinically and radiographically.
PubMed: 24086919
DOI: 10.7860/JCDR/2013/5612.3283 -
Genes Nov 2022Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal...
Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor suppressor genes, and In this work, we report a cross-sectional study including 35 index patients and 20 affected family members. Clinical phenotyping of all 55 affected cases was obtained, but genetic studies were performed only in 35 indexes. Of these, a total of 40% ( = 14) had a family history of MO. Clinical severity scores were class I in 34% (:18), class II in 24.5% (:13) and class III in 41.5% (:22). Pathogenic variants were identified in 83% (29/35) probands. We detected 18 (62%) in and 11 (38%) in . Patients with variants showed a height z-score of 1.03 SD lower than those with variants and greater clinical severity (II-III vs. I). Interestingly, three patients showed intellectual impairment, two patients showed a dual diagnosis, one Turner Syndrome and one hypochondroplasia. This study improves knowledge of MO, reporting new pathogenic variants and forwarding the worldwide collaboration necessary to promote the inclusion of patients into future biologically based therapeutics.
Topics: Humans; Exostoses, Multiple Hereditary; Cross-Sectional Studies; N-Acetylglucosaminyltransferases; Mutation; Genetic Testing
PubMed: 36360300
DOI: 10.3390/genes13112063 -
The Turkish Journal of Pediatrics 2023Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder characterized by typical craniofacial features, ectodermal and skeletal findings. TRPS...
BACKGROUND
Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder characterized by typical craniofacial features, ectodermal and skeletal findings. TRPS type 1 (TRPS1) is caused by pathogenic variations in the TRPS1 gene, which relates to the vast majority of cases. TRPS type 2 (TRPS2) is a contiguous gene deletion syndrome involving loss of functional copies of the TRPS1, RAD21, and EXT1. Herein, we reported the clinical and genetic spectrum of seven TRPS patients with a novel variant. We also reviewed the musculoskeletal and radiological findings in the literature.
METHODS
Seven Turkish patients (three female, four male) from five unrelated families aged between 7 to 48 years were evaluated. The clinical diagnosis was confirmed by either molecular karyotyping or TRPS1 sequencing analysis via next-generation sequencing.
RESULTS
Both TRPS1 and TRPS2 patients had some common distinctive facial features and skeletal findings. All patients had a bulbous nose with hypoplastic alae nasi, brachydactyly, short metacarpals and phalanges in variable stages. Low bone mineral density (BMD) was identified in two TRPS2 family members presenting with bone fracture, and growth hormone deficiency was detected in two patients. Skeletal X-ray imaging revealed cone-shaped epiphysis of the phalanges in all, and multiple exostoses were present in three patients. Cerebral hamartoma, menometrorrhagia and long bone cysts were among the new/rare conditions. Three pathogenic variants in TRPS1 were identified in four patients from three families, including a frameshift (c.2445dup, p.Ser816GlufsTer28), one missense (c.2762G > A), and a novel splice site variant (c.2700+3A > G). We also reported a familial inheritance in TRPS2 which is known to be very rare.
CONCLUSIONS
Our study contributes to the clinical and genetic spectrum of patients with TRPS while also providing a review by comparing with previous cohort studies.
Topics: Adolescent; Adult; Child; Female; Humans; Male; Middle Aged; Young Adult; Langer-Giedion Syndrome; Repressor Proteins; Syndrome
PubMed: 36866988
DOI: 10.24953/turkjped.2022.793 -
BMC Musculoskeletal Disorders Nov 2019Though malalignment of lower legs is a common pathologic phenomenon in multiple hereditary exostoses (MHE), relationship between locations of exostoses and malalignment...
BACKGROUNDS
Though malalignment of lower legs is a common pathologic phenomenon in multiple hereditary exostoses (MHE), relationship between locations of exostoses and malalignment of lower legs remains unclear. This study examined radiographs of MHE patients in an attempt to evaluate the tendency of coronal malalignment of lower legs with different location of exostoses on lower legs consisting of two parallel long bones.
METHODS
Between 2000 and 2017, we retrospectively reviewed the anteroposterior films of the teleo-roentgenographics of 63 patients with MHE. The patients were classified into four different groups depending on the locations of the exostosis, which occurred on both proximal and distal tibiofibular joints (A), proximal tibiofibular joint (B), distal tibiofibular joint (C), and not for the tibiofibular joint area (D). To evaluate the influence of the location of exostoses on coronal malalignment of lower legs, medial proximal tibia angle (MPTA), lateral distal tibia angle (LDTA), and fibular shortening were analyzed for each group.
RESULTS
Significant difference was observed in multiple comparative analyses for each of the four groups. On MPTA radiologic analysis, group A showed greatest value with significant difference compared with groups C and D (vs. (B): p = 0.215; vs. distal joints (C): p = 0.004; vs. (D): p = 0.001). Group B showed significant difference only with group D (vs. distal joints (C): p = 0.388; vs. (D): p = 0.002), but for group C and D showed no significant difference. For LDTA, only group A showed significant difference compared to other groups (p < 0.001). With regard to tibiofibular ratio for evaluation of fibular shortening, group A showed the lowest ratio (vs. (B): p = 0.004; vs. (C): p = 0.655; vs. (D): p < 0.001). Group C also presented the significant lower ratio than group D (p = 0.002).
CONCLUSIONS
For evaluation of the coronal malalignment of lower legs in MHE patients, not only ankle around the distal tibiofibular joint but also proximal tibiofibular joint should be examined, in that, lower limb deformity occurred by two parallel long bone which has self-contained joint.
LEVEL OF EVIDENCE
Level III, retrospective comparative study.
Topics: Adolescent; Adult; Ankle Joint; Child; Child, Preschool; Exostoses, Multiple Hereditary; Female; Humans; Knee Joint; Leg; Male; Retrospective Studies; Young Adult
PubMed: 31766997
DOI: 10.1186/s12891-019-2912-6 -
Computational and Mathematical Methods... 2022Symptomatic osteochondroma of the proximal femur necessitates a surgical excision. The purpose of this study was to describe a novel technique of computer...
PURPOSE
Symptomatic osteochondroma of the proximal femur necessitates a surgical excision. The purpose of this study was to describe a novel technique of computer navigation-aided excision for osteochondromata of the proximal femur. Outcomes of this technique are also presented.
METHODS
A total of 13 patients underwent computer navigation-aided excision of osteochondromata of the proximal femur from February 2012 to August 2016 in our institution. They were enrolled in this study. OrthoMap 3D (Stryker Orthopaedics, Mahwah, NJ, USA), a commercially available navigation software system, was used to merge computed tomography images of the proximal femur with an osteochondromata with the image of a normal proximal femur. Using the normal proximal femur as a template, intended resection margins for the proximal femur with osteochondromata were planned and then executed using intraoperative navigation guidance. Patients were followed up clinically and radiographically. The physical and mental health of patients was assessed with the Musculoskeletal Tumor Society (MSTS) score.
RESULTS
Eight patients had isolated exostoses. Five patients had tumors associated with multiple hereditary exostoses. For tumors projecting posteriorly or posteromedially, a posterolateral approach was used. For tumors projecting anteriorly or medially, an anterior approach was used. Prophylactic fixation was performed in four patients who required an anterior approach. The mean duration of the surgery was 189 minutes. There were no intraoperative fractures or postoperative complications. A secondary procedure was not needed for any case. The mean MSTS score at a mean follow-up of 17 months was 28.6 (maximum MSTS score: 30).
CONCLUSIONS
This is the first study to report a novel application of computer navigation for aiding the excision of osteochondromata of the proximal femur. It demonstrated favorable postoperative functional scores with a low rate of complications. The applicability, safety, and efficacy of this technique were demonstrated. It is particularly useful for resections involving large tumors that can obscure anatomical landmarks and for patients with associated proximal femoral deformity.
Topics: Bone Neoplasms; Computers; Femur; Humans; Osteochondroma; Retrospective Studies; Surgery, Computer-Assisted; Treatment Outcome
PubMed: 35685895
DOI: 10.1155/2022/7635945 -
Advances in Orthopedics 2014The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our... (Review)
Review
The aim of this study is to systematically review the literature with regards to surgical treatment of patients with hip joint osteochondromas, and to report our surgical management of three paediatric patients who had femoral neck or acetabular osteochondromas in association with acetabular dysplasia. We performed a systematic review using PubMed and Embase databases for all studies that reported surgical treatments for patients with peritrochanteric or acetabular osteochondroma with or without acetabular dysplasia. We also retrospectively reviewed three patients who were diagnosed with a hip osteochondroma in association with actetabular dysplasia. These patients were known to have hereditary multiple exostoses (HME). The systematic review revealed 21 studies that met our inclusion criteria. All studies were case reports and retrospective in nature and failed to conclude a uniform treatment plan. The three reported cases illustrate successful excision of hip osteochondromas and treatment of acetabular dysplasia. Early excision of hip osteochondromas might prevent acetabular dysplasia in HME patients. Routine radiographic pelvic survey at the time of diagnosis of HME is recommended for early detection of hip osteochondromas and acetabular dysplasia in these children.
PubMed: 24963411
DOI: 10.1155/2014/180254 -
Journal of Oral and Maxillofacial... Dec 2017There have been only a few reports on the prevalence of torus mandibularis (TM) in young adult patients, and TM can have various adverse effects on oral and occlusal... (Observational Study)
Observational Study
PURPOSE
There have been only a few reports on the prevalence of torus mandibularis (TM) in young adult patients, and TM can have various adverse effects on oral and occlusal states in middle-age patients. This study was designed to determine the association between TM status and oral and occlusal states in young healthy dentate adults.
MATERIALS AND METHODS
This was a cross-sectional study; the sample population included students at Hiroshima University (Hiroshima, Japan) who participated for practical education. The predictor variables in this study included oral symptoms (temporomandibular joint noise, tooth clenching and grinding, buccal mucosa ridging, dental attrition, and tongue habit), oral anatomy (occlusal vertical dimension), and oral function (average occlusal pressure, occlusal contact area, and maximum voluntary tongue pressure). The outcome variable was TM status (present or absent). Additional variables were demographic in nature and included age, number of residual teeth, body weight, and gender. These variables were compared among participants with and without TM using univariate analysis and multiple logistic regression analysis. Statistical analyses were carried out using SPSS Statistics 19 for Windows (IBM Corp, Armonk, NY); a P value less than .05 was considered significant.
RESULTS
Of 204 participants included in the study, 50% were men and 50% were women. The mean age was 22.4 ± 2.7 years. TM was present in 119 (58.3%). Multiple logistic regression analysis showed that TM status was associated with dental attrition and occlusal contact area (P < .05).
CONCLUSIONS
This study showed that TM was present in more than half the young healthy dentate participants and was closely associated with dental attrition and occlusal contact area. This study will provide readers with useful information to help prevent the development of TM before middle age.
Topics: Adult; Case-Control Studies; Cross-Sectional Studies; Exostoses; Female; Humans; Japan; Logistic Models; Male; Mandible; Prevalence; Prospective Studies; Young Adult
PubMed: 28577371
DOI: 10.1016/j.joms.2017.04.044 -
Matrix Biology : Journal of the... Feb 2014Most elements of the vertebrate skeleton are formed by endochondral ossification. This process is initiated with mesenchymal cells that condense and differentiate into... (Review)
Review
Most elements of the vertebrate skeleton are formed by endochondral ossification. This process is initiated with mesenchymal cells that condense and differentiate into chondrocytes. These undergo several steps of differentiation from proliferating into hypertrophic chondrocytes, which are subsequently replaced by bone. Chondrocyte proliferation and differentiation are tightly controlled by a complex network of signaling molecules. During recent years, it has become increasingly clear that heparan sulfate (HS) carrying proteoglycans play a critical role in controlling the distribution and activity of these secreted factors. In this review we summarize the current understanding of the role of HS in regulating bone formation. In human, mutations in the HS synthetizing enzymes Ext1 and Ext2 induce the Multiple Osteochondroma syndrome, a skeletal disorder characterized by short stature and the formation of benign cartilage-capped tumors. We review the current insight into the origin of the disease and discuss its possible molecular basis. In addition, we summarize the existing insight into the role of HS as a regulator of signal propagation and signaling strength in the developing skeleton.
Topics: Cell Differentiation; Cell Proliferation; Chondrocytes; Chondrogenesis; Heparitin Sulfate; Humans; N-Acetylglucosaminyltransferases; Osteochondroma; Osteogenesis; Signal Transduction
PubMed: 24370655
DOI: 10.1016/j.matbio.2013.11.003 -
Developmental Biology May 2013During limb skeletogenesis the cartilaginous long bone anlagen and their growth plates become delimited by perichondrium with which they interact functionally. Yet,...
Perichondrium phenotype and border function are regulated by Ext1 and heparan sulfate in developing long bones: a mechanism likely deranged in Hereditary Multiple Exostoses.
During limb skeletogenesis the cartilaginous long bone anlagen and their growth plates become delimited by perichondrium with which they interact functionally. Yet, little is known about how, despite being so intimately associated with cartilage, perichondrium acquires and maintains its distinct phenotype and exerts its border function. Because perichondrium becomes deranged and interrupted by cartilaginous outgrowths in Hereditary Multiple Exostoses (HME), a pediatric disorder caused by EXT mutations and consequent heparan sulfate (HS) deficiency, we asked whether EXT genes and HS normally have roles in establishing its phenotype and function. Indeed, conditional Ext1 ablation in perichondrium and lateral chondrocytes flanking the epiphyseal region of mouse embryo long bone anlagen - a region encompassing the groove of Ranvier - caused ectopic cartilage formation. A similar response was observed when HS function was disrupted in long bone anlagen explants by genetic, pharmacological or enzymatic means, a response preceded by ectopic BMP signaling within perichondrium. These treatments also triggered excess chondrogenesis and cartilage nodule formation and overexpression of chondrogenic and matrix genes in limb bud mesenchymal cells in micromass culture. Interestingly, the treatments disrupted the peripheral definition and border of the cartilage nodules in such a way that many nodules overgrew and fused with each other into large amorphous cartilaginous masses. Interference with HS function reduced the physical association and interactions of BMP2 with HS and increased the cell responsiveness to endogenous and exogenous BMP proteins. In sum, Ext genes and HS are needed to establish and maintain perichondrium's phenotype and border function, restrain pro-chondrogenic signaling proteins including BMPs, and restrict chondrogenesis. Alterations in these mechanisms may contribute to exostosis formation in HME, particularly at the expense of regions rich in progenitor cells including the groove of Ranvier.
Topics: Animals; Bone Morphogenetic Protein 2; Bone and Bones; Cartilage; Chondrogenesis; Choristoma; Embryo, Mammalian; Exostoses, Multiple Hereditary; Gene Deletion; Gene Expression Regulation, Developmental; Heparitin Sulfate; Humans; Kinetics; Mice; Models, Biological; N-Acetylglucosaminyltransferases; Phenotype; Protein Binding; Signal Transduction; Urea
PubMed: 23458899
DOI: 10.1016/j.ydbio.2013.02.008 -
Annals of Thoracic and Cardiovascular... 2014Exostosis occurs in the ribs either sporadically or as a manifestation of a genetic disorder known as hereditary multiple exostoses. Costal exostosis may cause chest...
Exostosis occurs in the ribs either sporadically or as a manifestation of a genetic disorder known as hereditary multiple exostoses. Costal exostosis may cause chest pain and, on rare occasions, result in hemothorax, pneumothorax, hemopneumothorax, and diaphragmatic or pericardial laceration. We report a case of pneumothorax in a 16-year-old boy with exostosis in the right seventh and eighth ribs. He previously received a diagnosis of multiple exostoses and underwent costal resection. The lung and pleura were injured because of long-term friction between the exostoses and the visceral pleura.To the best of our knowledge, this is only the fourth report of pneumothorax caused by costal exostosis. Moreover, all previously reported cases of pneumothorax or hemopneumothorax caused by costal exostosis, including the present case, involved lower lobe injury.
Topics: Adolescent; Exostoses, Multiple Hereditary; Humans; Male; Pneumothorax; Ribs; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 23269261
DOI: 10.5761/atcs.cr.12.01955