A Rare Cause of Pain in the Oral Cavity: Osteomyelitis of Tori.

A 63-year-old man presented with a 1-month history of worsening mouth pain, particularly under the tongue bilaterally, with left more than right. A physical examination revealed multiple dental caries and bilateral mandibular tori, with the left mandibular torus being exquisitely tender to palpation. Lab tests showed increased inflammatory markers in the absence of leukocytosis. A maxillofacial computed tomography scan revealed findings concerning for chronic osteomyelitis with osteolysis of the left mandibular torus. The patient was started on intravenous antibiotics and transferred to another institution for further management through their oral and maxillofacial surgery service. The surgical pathology after torectomy confirmed the diagnosis of acute osteomyelitis with osteonecrosis. Although rare, this case underscores the importance of familiarity with osteomyelitis in tori of the oral cavity, also highlighting the imaging and clinical correlation. Further research is necessary to understand the risk factors and optimal management strategies for similar cases.

Successful treatment of forelimb osteochondroma in a ferret (Mustela putorius furo).

A 1-year-old male neutered ferret (Mustela putorius furo) was evaluated for an abnormal left cubital joint. Radiographs demonstrated a proliferative osseous lesion of the left proximal antebrachium. Computed tomography confirmed a large thin-walled expansile osseous lesion of the left proximal radius and identified multifocal proliferative lesions of the axial spine, two of which caused spinal cord compression. A left forelimb amputation with total scapulectomy was performed. Histopathology revealed a well-demarcated mass with a thin rim of mature lamellar bone and a discontinuous cartilage cap covered by a perichondrial/periosteal membrane continuous with the adjacent bone. Findings were most consistent with an osteochondroma or osteochondromatosis (i.e., multiple cartilaginous exostoses, hereditary multiple exostoses). No evidence of malignant transformation was observed within this specimen. Three months post-surgery, verbal correspondence with the owner confirmed return to normal activity level and no emergence of neurological signs. Repeat examination and imaging were recommended.

A New Classification System for Forearm Deformities Caused by Hereditary Multiple Osteochondromas.

PURPOSE: The objective of this study was to evaluate the Masada and Jo classifications for clinical use in patients with forearm deformity caused by hereditary multiple osteochondroma and propose a new classification system that is all-inclusive and can guide clinical management. METHODS: A retrospective review of 275 forearms was performed. A split-sample approach was used, where 138 forearms were analyzed to create a new classification, which was then validated on the remaining 137 forearms. Radiographs were reviewed to determine the number and location of osteochondromas and the presence of radial head dislocation (RHD) and to measure radiographic parameters. Multivariable logistic regression analysis was performed to identify radiological parameters associated with RHD. RESULTS: According to the Masada and Jo classifications, 95 of 275 forearms (34.5%) were unclassifiable. Analyses of the split group (n = 138) revealed 42 forearms with RHD. All these had distal ulna lesions, qualifying as the greatest associated factor for RHD. Further subgroup multivariable logistic regression analysis of forearms with distal ulna lesions identified radiological parameter proportional ulna length as a statistically significant association of RHD, qualifying as "at-risk" criteria. The area under the receiver operating characteristic curve for proportional ulna length was 0.89, with a receiver operating characteristic-derived ideal value of ≤ 0.95 (sensitivity 0.86 and specificity 0.86). CONCLUSIONS: We proposed a new classification system stratified into three groups-high, moderate, and low-risk of RHD-based on the identified factors associated with RHD. Type 1 comprises forearms with distal ulna osteochondromas-subdivided into type 1A (high-risk), where forearms meet the at-risk criteria for RHD and type 1B (moderate-risk), where forearms do not meet the at-risk criteria. Type 2 (low-risk) comprises forearms without distal ulna osteochondromas. CLINICAL RELEVANCE: Our classification system addresses the limitations of existing classifications by risk stratifying forearms into three groups-high, moderate, and low-risk of RHD.

Predictors of Radial Head Dislocation in Patients with Multiple Hereditary Exostoses.

Background: Radial head dislocation in patients with multiple hereditary exostoses (MHE) is associated with loss of function and cosmetic problems. The treatment of the deformity with radial head dislocation is difficult and the timing of surgical intervention is important. The aim of this study was to evaluate the factors predictive of radial head dislocation in patients with MHE. Methods: Patients diagnosed with forearm deformity due to MHE between 1995 and 2021 were retrospectively evaluated. Radiographic parameters including radial bow (RB), ulnar bow (UB), total radial bow (TRB), total ulnar bow (TUB), percent ulnar length (PUL), ulnar shortening (US), radial articular angle (RAA), modified Masada classification and irregularity of proximal radioulnar joint (PRUJ) of the dislocated group (group D), that is subluxation or dislocation of the radial head, and the located group (group L) were compared. Results: A total of 18 patients and 25 limbs (5 girls and 13 boys) with a mean age of 10.5 years were included. There were significant differences in TUB (22.8° ± 5.6° vs. 10.7° ± 6.5°), PUL (97.5% ± 5.5% vs. 108.2% ± 7.7%) between group D and group L (p < 0.05). Moreover, irregularity of PRUJ on radiographs was more in group D (p < 0.05). Conclusions: It is possible that appropriate radiographic assessment in relation to radial head dislocation may prevent delayed surgical treatment of forearm deformities in MHE. Level of Evidence: Level IV (Diagnostic).

Metachondromatosis: A Confusing Disease.

Metachondromatosis is a rare autosomal dominant genetic disease with incomplete penetrance that involves abnormal function of the PTPN11 gene. Differentiation between chondrogenic tumors is a challenge for orthopedists. We report a case of a 5 year-old girl with metachondromatosis, a disease that shares attributes with osteochondromas and enchondromas. We found multiple osteochondroma-like lesions with the atypical characteristic of guiding its growth toward the neighboring joint (epyphisis) instead of moving away from it. Furthermore, columnar enchondroma-like lesions were clearly visible in the right distal radius, in the proximal femoral cervix and in the iliac crests. The patient reported that some other tumor had disappeared or downsized with time. This case was debated between a multidisciplinary skeletal dysplasia group. The aforementioned clinical and radiographic findings reinforced the hypothetical diagnosis of metachondromatosis. Definitive diagnosis of metachondromatosis requires a combination of clinical, radiographical and histopathological findings. Differential diagnosis between enchondromas, osteochondromas and metachondromatosis is vital due to differences in malignization and natural history. When a patient has multiple enchondromas and osteochondromas with regression of some lesions and atypical radiographical characteristic of the osteochondroma-like lesions pointing toward the epiphysis, metachondromatosis, a rare disease, must be considered. Surgical treatment is reserved for painful lesions Risk of malignization is insignificant and genetic advice must be given due it is an autosomal dominant disease.

Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies.

KCTD1 plays crucial roles in regulating both the SHH and WNT/ß-catenin signaling pathways, which are essential for tooth development. The objective of this study was to investigate if genetic variants in KCTD1 might also be associated with isolated dental anomalies. We clinically and radiographically investigated 362 patients affected with isolated dental anomalies. Whole exome sequencing identified two unrelated families with rare (p.Arg241Gln) or novel (p.Pro243Ser) variants in KCTD1. The variants segregated with the dental anomalies in all nine patients from the two families. Clinical findings of the patients included taurodontism, unseparated roots, long roots, tooth agenesis, a supernumerary tooth, torus palatinus, and torus mandibularis. The role of Kctd1 in root development is supported by our immunohistochemical study showing high expression of Kctd1 in Hertwig epithelial root sheath. The KCTD1 variants in our patients are the first variants found to be located in the C-terminal domain, which might disrupt protein-protein interactions and/or SUMOylation and subsequently result in aberrant WNT-SHH-BMP signaling and isolated dental anomalies. Functional studies on the p.Arg241Gln variant are consistent with an impact on ß-catenin levels and canonical WNT signaling. This is the first report of the association of KCTD1 variants and isolated dental anomalies.

Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma.

We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh. Hereditary multiple exostoses is a rare genetic disorder characterized by multiple osteochondromas. Malignant transformation to chondrosarcoma of a pre-existing osteochondroma is a possible significant manifestation of this hereditary syndrome. Imaging modalities such as X-ray, Ultrasound, and computed tomography play a crucial role in the diagnosis and management of these patients, as described in this case.

Surgical Proposition of a Slow-Growing Calvarial Exostosis in a Female Patient With a Congenital Iris Cyst of the Anterior Chamber and Mandibular Tori.

We present an unusual case of a woman in her early 50s with a slow-growing calvarial exostosis. Exostoses are bony spurs or osteomas extending outward beyond a bone's surface and may be benign or malignant. Calvarial exostoses are a less common bone tumor that can occur in the population. We present a case of a rare, slow-growing calvarial exostosis with a combination of mandibular tori and a congenital iris cyst. We discuss differentials of this exostosis and different syndromes that may cause it such as hereditary multiple exostoses and Gardner syndrome. The current article aims to spread awareness of this atypical presentation of exostoses and present our institution's surgical proposition for removing a calvarial exostosis to obtain a further histological analysis of its composition. As these masses may commonly be benign, a definitive diagnosis cannot be made through imaging alone to rule out more threatening conditions. We have addressed radiological findings and diagnostic and treatment options offered to the patient. The patient decided not to move forward with removing the mass and would continue to monitor and return should she notice any unusual or acute changes.

Multiple Hereditary Exostoses instigating a popliteal pseudoaneurysm in a young Middle Eastern male: A case report and literature review.

INTRODUCTION AND IMPORTANCE: Multiple Hereditary Exostoses is a rare autosomal dominant bone disorder that predominantly affects males at an incidence of (1:50,000 to 1:100,000) in Western populations. The etiology is owed to mutations in the EXT gene group, specifically EXT1 and EXT2 which cause the formation of Osteochondromas. Diagnosis is typically established in childhood. Nevertheless, vascular complications are extremely rare while being potentially fatal. Therefore, timely diagnosis and treatment are vital for such patients. CASE PRESENTATION: We present the case of a 37-year-old Middle Eastern male with Multiple Hereditary Exostoses who experienced sudden-onset left lower limb pain persisting for a month prior to admission. It was associated with coldness and paresthesia of the ipsilateral lower limb. The presurgical radiological workup uncovered a popliteal pseudoaneurysm subsequent to Multiple Hereditary Exostoses. CLINICAL DISCUSSION: Through open surgery, the vascular perfusion was successfully restored, and a subsequent supra- to infra-geniculate popliteal artery anastomosis via saphenous vein grafting was done. Furthermore, the Osteochondroma was utterly resected to limit recurrence of another vascular injury. The following histopathological analysis confirmed the diagnosis of an Osteochondroma as a result of MHE. CONCLUSION: Multiple Hereditary Exostoses is a rare occurrence leading to pseudoaneurysms. This event underscores the need for further documentation to aid in establishing a prompt diagnosis and carrying out suitable interventions. Considering this pathology in a multidisciplinary approach ensures proper treatment. Following a comprehensive literature review, our case stands as the first case in the published literature from our country which emphasizes its value and rarity.

Pediatric diaphragmatic hernia induced by a rib osteochondroma.

Diaphragmatic hernia in children is uncommon, especially when not congenital. We present a case of an 11-year old boy with a diaphragmatic hernia caused by a rib osteochondroma. The osteochondroma was surgically removed and the laceration in the diaphragm was repaired. This case shows the importance of being familiar with acquired diaphragmatic hernia in children, to recognize and prevent possible complications in an early stage.

Fibrodysplasia Ossificans Progressiva: A rare disease due to unawareness, case report and literature review.

INTRODUCTION AND IMPORTANCE: Fibrodysplasia Ossificans Progressiva is an ultra-rare genetic disorder of progressive soft tissue ossification. Due to unawareness and poor clinical suspicion, the rate of misdiagnosis, delay in diagnosis, and unnecessary diagnostic procedures leading to permanent injury and lifelong disability is common. Here we report this rare genetic disorder in a six years old child who was initially misdiagnosed as multiple exostoses and operated on. CASE PRESENTATION: A 6 year old child presented with swellings over the posterior neck and back for four years. The patient was misdiagnosed as a case of multiple exostoses and an excisional biopsy was done a year back. The swelling worsened after the excision; currently, she cannot move her neck from side to side, and flex and extend. Examination revealed multiple hard and slightly tender masses over the posterior neck, para scapular and thoracolumbar para spinal region. She also has hallux valgus deformity that had been present since birth. CT (computed tomography) scan confirmed extensive extra-skeletal soft tissue ossification. CLINICAL DISCUSSION: The progression of heterotopic ossification is characteristically anatomic and orderly, typically initially involving the body's dorsal, axial, cranial, and proximal regions and later in the ventral, appendicular, caudal, and distal regions. Skeletal muscles of the tongue, diaphragm, extra-ocular muscles, cardiac muscles, and smooth muscles are inexplicably spared. CONCLUSION: Early diagnosis prevents potentially harmful diagnostic and therapeutic procedures. The characteristic big toes malformation is the most important and best key for the early suspicion of the diagnosis.

Surgical and conservative treatment outcomes of medication-related osteonecrosis of the jaw located at tori: a retrospective study.

PURPOSE: Tori and exostoses are considered risk factors for the development of medication-related osteonecrosis of the jaw (MRONJ). The aims of this study were to present the prevalence of MRONJ located at tori in the Copenhagen ONJ Cohort, evaluate the surgical treatment of MRONJ located at tori and explore trauma to tori as an additional risk factor in patients on antiresorptive medication. METHODS: Data from a consecutive series of 506 patients with MRONJ (Copenhagen ONJ Cohort) were reviewed for the presence of tori and MRONJ located at tori. Demographic and medical data were analyzed, and healing outcomes and pain after the prophylactic removal of tori, surgical treatment of MRONJ located at tori, and conservative treatment of MRONJ located at tori were evaluated and compared using Fisher's exact test. RESULTS: MRONJ located at tori was frequent and could be identified in 53% of the patients with tori, which accounts for a prevalence of 5.1% in the entire cohort. Of the 28 surgically treated patients, 27 (96.4%) healed uneventfully with no exposed bone after their first or second revision surgery. Fourteen (41.2%) patients with tori underwent therapeutic removal, eight (23.5%) underwent prophylactic removal, and six (17.6%) underwent both therapeutic and prophylactic removals. Two (33.3%) of the six conservatively treated patients healed spontaneously. Both treatment types resulted in a significant decrease in pain. CONCLUSION: Prophylactic and therapeutic surgical removal of tori are reliable treatments and should be considered if a patient's general health allows surgery. TRIAL REGISTRATION: The study was approved by the Regional Scientific Ethical Committee (H-6-2013-010) on November 20, 2013, and was retrospectively registered.

Rare coexistence of multiple osteochondromas and solitary osteoid osteoma: A case report.

Multiple osteochondromas (MOs) are inherited in an autosomal-dominant manner, with a penetrance of ~96 and 100% in female and male patients, respectively. Osteochondromas primarily involve the metaphyses and diaphyses of long bones, including the ribs. Osteoid osteomas account for ~3 and 11% of all bone tumors and benign bone tumors, respectively. Furthermore,1 the male-to-female ratio is 2-3:1, and they generally occur in the long bones of the lower extremities, with the femoral neck being the most frequent site. The present study describes the case of a 16-year-old male patient with a bony mass around the left knee joint and pain in the left calf. Radiography revealed MOs in the upper and lower extremities, while computed tomography showed a nidus in the cortex of the tibial shaft. The patient's family history included the presence of MOs, and the patient was diagnosed with MOs and a solitary osteoid osteoma. Surgical excision of the osteochondroma and curettage of the osteoid osteoma in the proximal tibia and tibial shaft, respectively, were performed simultaneously. Postoperative pathological examination revealed osteochondroma and osteoid osteoma. Furthermore, the pain resolved, and no recurrence was observed 7 months post-operation. To the best of our knowledge, no reports exist on coexisting MOs and osteoid osteoma; therefore, the present study describes the first case of such a condition. Marginal excision for osteochondroma and curettage for osteoid osteoma effectively improved the symptoms.

Chondrosarcoma secondary to hereditary multiple osteochondromas with spinal cord compression: A case report and systematic review.

Background: Hereditary multiple osteochondromas (HMOs) are a rare genetic disorder characterized by the formation of multiple benign osteochondromas that can undergo malignant transformation into chondrosarcoma. Case Description: A 24-year-old male with a history of HMO and osteochondroma surgery 4 years ago, presented with back pain and paresthesias. The magnetic resonance showed a right paravertebral infiltrating mass at the T12-L1 level causing spinal cord compression. Following en bloc resection of the tumor, the patient's symptoms/ signs resolved. The final pathological diagnosis was consistent with a chondrosarcoma. Conclusion: Chondrosarcomas secondary to HMO with spinal cord compression are rare. These patients often presenting with significant myelopathy/cord compression should undergo gross total resection where feasible to achieve the best outcomes.

Chest wall osteochondroma resection with biologic acellular bovine dermal mesh reconstruction in pediatric hereditary multiple exostoses: A case report and review of literature.

BACKGROUND: Hereditary multiple exostoses is a rare genetic disorder characterized by the growth of multiple osteochondromas affecting primarily long bones. Chest wall lesions may represent a challenge, particularly in pediatric patients. Pain is a common manifestation. However, life-threatening complications can result from direct involvement of adjacent structures. Surgical resection with appropriate reconstruction is often required. CASE SUMMARY: A 5-year-old male who was diagnosed with hereditary multiple exostoses presented with significant pain from a large growing chest wall exostosis lesion. After appropriate preoperative investigations, he underwent surgical resection with reconstruction of his chest wall using a biologic bovine dermal matrix mesh. CONCLUSION: Resection of chest wall lesions in children represents a challenge. Preoperative planning to determine the appropriate reconstruction strategy is essential.

Osteochondroma of the Acromion Process: A Rare Case with an Unusual Presentation.

Introduction: Osteochondroma is the most common primary benign bone tumor. It's radiologic characteristics are often pathognomonic. Osteochondromas usually occur at the metaphysis of long bones. The distal end of femur, proximal humerus, proximal tibia, and fibula are the common locations. Most cases present within the first three decades. Case Report: A 12-year-old boy presented with osteochondroma of left acromion process. It is very unusual for its location with a mass over the left shoulder extending laterally into deltoid muscle. Radiologic studies showed large pedunculated mass arising from the acromion process. On surgical exploration, we found a pedunculated and well encapsulated mass on the lateral aspect of the left shoulder with a thin hyaline cartilaginous cap. The mass was carefully separated from nearby structures and resected en bloc. Results: No post-operative complications were noticed. Patient was prescribed physiotherapy and we have him advised 6-month follow-up till skeletal maturity. Patient had complete range of motion at the last follow-up. He was able to do his all daily activities. Conclusion: The acromion is very rare site for osteochondroma with mass extending into lateral deltoid muscle. Careful blunt dissection and protection of nearby structures and fairly good learning curve of surgeon is needed in operating such cases.

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.

BACKGROUND: Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1 and EXT2 loss of function mutations. Most pathogenic mutations are nonsense followed by missense mutations and deletions. CASE PRESENTATION: Here we report on a patient with a rare and complex genotype resulting in a typical HME phenotype. Initial point mutation screening in EXT1 and EXT2 genes by Sanger sequencing did not reveal any pathogenic variants. The patient along with the healthy parents was subsequently referred for karyotype and array-Comparative Genomic Hybridization (CGH) analyses. Chromosomal analysis revealed two independent de novo apparently balanced rearrangements: a balanced translocation between the long arms of chromosomes 2 and 3 at breakpoints 2q22 and 3q13.2 and a pericentric inversion with breakpoints at 8p23.1q24.1. Both breakpoints were confirmed by Fluorescence In Situ Hybridization (FISH). Subsequently, array-CGH revealed a novel heterozygous deletion within the EXT1 gene at one of the inversion breakpoints, rendering the inversion unbalanced. The mode of inheritance, as well as the size of the deletion were further investigated by Quantitative Real-time PCR (qPCR), defining the deletion as de novo and of 3.1 kb in size, removing exon 10 of EXT1. The inversion in combination with the 8p23.1 deletion most likely abolishes the transcription of EXT1 downstream of exon 10 hence resulting in a truncated protein. CONCLUSIONS: The identification of a rare and novel genetic cause of HME, highlights the importance of additional comprehensive investigation of patients with typical clinical manifestations, even when EXT1 and EXT2 mutation analysis is negative.