Hereditary Multiple Exostoses Research Articles

Intrathecal Fentanyl Pump Placement in a Patient With Chronic Pain Caused by Hereditary Multiple Exostoses: A Case Report

Intrathecal Fentanyl Pump Placement in a Patient With Chronic Pain Caused by Hereditary Multiple Exostoses: A Case Report

Axillary artery pseudoaneurysm secondary to hereditary multiple exostoses.

Axillary artery pseudoaneurysm secondary to hereditary multiple exostoses.

Nature-based interventions for individuals with rare skeletal disorders: evaluation of a 5-day sailing program on health-related quality of life

Individuals with rare skeletal disorders like Multiple Osteochondromas and Ollier Disease often experience physical and psychological burdens. Adventure therapy, with activities like sailing in outdoor settings, promotes personal growth and psychological well-being, potentially improving health-related quality of life (HRQoL). This study aimed to evaluate the impact of a sailing program on health-related quality of life and participant satisfaction in individuals with Multiple Osteochondromas and Ollier Disease. A quasi-experimental one-group pre-post design was employed, with HRQoL assessed using the EQ-5D® instrument and participant satisfaction measured via a feedback survey. Data were collected before and after the five-day sailing program conducted in the Mediterranean Sea in 2022 and 2023, involving participants diagnosed with Multiple Osteochondromas and Ollier Disease. Statistical analyses were performed using the Wilcoxon signed-rank test and McNemar’s test for paired data. A significance level of p < 0.05 and p < 0.10 was considered. A total of 25 participants, predominantly male (52%), with a median age of 16 years (ranking from 11 to 31), were included in the study. The sailing program had mixed impact on HRQoL. Specifically, individuals who were female (p = 0.03), aged 16 and older (p = 0.04), with higher educational attainment (p = 0.10) or stronger self-management (p = 0.09), resilience (p = 0.01) and self-engagement (p = 0.09) skills experienced enhanced HRQoL. Conversely, other participants exhibited an increase in self-care difficulties (p = 0.02) and a trend towards worsening pain/discomfort (p = 0.38). Overall satisfaction with the program was high, with 90% of participants expressing satisfaction.This is the first study which examined HRQoL in Multiple Osteochondromas and Ollier Disease patients within an outdoor adventure therapy setting. Findings suggest that adventure therapy, integrated into healthcare strategies, may offer a valuable complement to conventional treatments for rare skeletal disorders. Future research, including randomized controlled trials, are necessary to confirm these results and develop robust interventions for improving the well-being in this population.

Hereditary multiple exostoses with cervical spine involvement: a case report: Retraction

Hereditary multiple exostoses with cervical spine involvement: a case report: Retraction

Hereditary multiple exostoses

Hereditary multiple exostoses is a rare congenital condition with autosomal dominant inheritance. It consists of formation of osteocartilaginous exostoses, most commonly from the metaphysis of long bones. Surgery is the main treatment as there is no available medical treatment. Clinical follow-ups with orthopaedic specialists are important, both in childhood and adulthood. In childhood, focus is on managing symptoms and removing symptomatic exostoses, while in adulthood, MRI is performed to rule out malignant transformation, as argued in this review.

Novel EXT1 variants cause divergent symptom severity in multiple cartilaginous exostoses: a family report

Abstract Background Multiple cartilaginous exostoses (MCE) are a rare genetic disorder characterized by multiple osteochondromas in the metaphysis of long bones. Case Presentation. We report a 15-year-old male patient, his father, and his brother, all presenting varied severity of the same symptom. The patient exhibited symptoms since infancy, with osteochondromas affecting mobility and causing joint deformities. Whole exome sequencing identified a pathogenic NM_000127.3(EXT1):c.1056 + 2 T &gt; G and a likely pathogenic NM_000127.3(EXT1):c.1047G &gt; T variant in the EXT1 gene, both novel. Conclusions Despite three decades since the discovery of the EXT1 gene, MCE diagnosis may be delayed until adolescence or adulthood. This report contributes to clinical understanding, emphasizing the importance of early diagnosis, genetic analysis, and potential treatment approaches, to mitigate long-term deformities and complications in MCE patients.

Pneumothorax as the first presentation of multiple exostosis.

This article underscores the critical importance of thorough physical examinations and the need to investigate secondary causes in cases of refractory pneumothorax. The identification of hereditary multiple exostoses (HME) as the underlying condition highlights the necessity of considering rare etiologies, particularly in atypical presentations. While exostoses typically affect long bones, they can also involve the ribs and scapulae, leading to complications such as pneumothorax. In pediatric patients, where multiple symptoms may arise from a single condition, a multidisciplinary approach is essential for accurate diagnosis and effective management.

Secondary Chondrosarcoma of the Rib in a Case of Diaphyseal Aclasis: A Rare Case Report

Hereditary multiple exostosis has a 3%–5% chance of converting into chondrosarcoma. It is a rare case report of a 32-year-old female with hereditary multiple exostosis who presented with pain and progressive swelling over her right chest wall for 3 months. A clinical examination revealed a large globular swelling over her right chest. Imaging revealed a large, ill-defined, aggressive, and exophytic lesion with a thick cartilage cap arising from the 8th rib. The lesion was hypermetabolic and avid on PET CT scan. She underwent a core needle biopsy which showed features of malignant transformation. En-bloc resection of the tumor with 7, 8, and 9 ribs followed by plate and mesh reconstruction was carried out.

Should we rethink the approach to osteochondromas in dangerous anatomical sites in multiple hereditary exostoses?

Should we rethink the approach to osteochondromas in dangerous anatomical sites in multiple hereditary exostoses?

Factors influencing the speed of correction speed of distal tibial valgus deformity in children with percutaneous epiphyseodesis using transphyseal screw

IntroductionThe distal tibial valgus deformity in children mimics a hindfoot valgus and is observed in several conditions of both non-neurogenic and neurogenic origin. The deformity can only be detected with radiological examination and can be safely and effectively corrected in children with medial percutaneous epiphysiodesis using transphyseal screws (PETS). The aims of the study are: 1. to determine the correction rates of the distal tibial valgus deformity due to different pathologies, 2. to examine the correction rate in relation to the age at implantation, severity of the initial deformity and the duration of implantation, 3. and types of foot deformities associated with the deformity. Materials and methodsA retrospective study was done on children who underwent a PETS for a distal tibial valgus deformity. The lateral distal tibia angle 89° ± 3° on ankle mortice x-rays was taken as normal. An analysis of variance and covariance was done to investigate differences in parameters between aetiologies and relations between parameters respectively. ResultsFollowing exclusion of 191 limbs, 155 limbs in 104 children were included the study, 5 groups could be identified: Idiopathic, ICP (cerebral palsy), MMC (Meningomyelocele), Dysmelia, MHE (multiple hereditary exostosis). The mean age at implantation of all patients was 10.9 ± 1.4 years. The average correction of 0.45° ± 0.08°/month with no significant differences in the correction rates between groups. However, the correction rates were dependent on the age, the initial deformity and the duration of treatment. The incidence of a valgus foot deformity was 86.4 %. ConclusionThe correction rates of the distal tibial valgus deformity following PETS are variable and depend, on the age at implantation, duration of treatment and initial deformity. The spectrum of foot deformities associated with distal tibial valgus deformity, especially a high prevalence of valgus foot deformity warrants an ankle mortice x-ray. Level of EvidenceLevel III, retrospective study

Ulnar lengthening for children with forearm deformity from hereditary multiple exostoses: a retrospective study from a tertiary medical center

BackgroundPatients with hereditary multiple exostosis (HME) usually present with forearm deformity with or without radial head dislocation. Ulna lengthening has been proposed to address this condition. Exostosis resection plus ulna lengthening has been adopted in our hospital since 2008, and patients with this condition were retrospectively reviewed. Herein, we aimed to investigate the optimal timing and clinical outcomes of this surgical approach.MethodsIn all, thirty-five patients (40 forearms), including 22 boys and 13 girls, were enrolled in our study from July 2014 to September 2020. We divided the patients into 4 groups based on the age when they received surgery and the status of the radial head. Pronation and supination of the forearm, flexion and extension of the elbow, wrist ulnar deviation and wrist radial deviation, and radiological parameters including ulnar length (UL), ulnar variance (UV), the percentage of radial bowing (RB/RL), radio articular angle (RAA) and carpal slip (CS), were assessed and recorded.ResultsThe mean UL was significantly improved after surgery in four Groups (P<0.05). In patients with radial head dislocation, we found significant improvement in forearm, wrist function and elbow flexion (p < 0.05). For the patients with radial head dislocation, the juniors demonstrated better improvement in % RB and RAA (p<0.05, p = 0.003 and 0.031).ConclusionExostosis resection and ulna lengthening with unilateral external fixation can effectively improve the function and radiological parameters of forearm deformity in HME children. For patients with radial head dislocation, early surgery can achieve better results. For patients not associated with radial head dislocation, we recommend regular follow-up and surgical treatment after 10 years of age.

Solitary medial proximal tibial osteochondromas cause pes anserinus syndrome in adolescents.

Osteochondromas are common bone tumors with hyaline cartilage-covered heads, arising from cortical and medullary bone. Solitary medial proximal tibial osteochondromas (MPTOs) can cause pes anserinus syndrome via compression. However, the literature lacks comprehensive studies on MPTO-related pes anserinus syndrome and its surgical outcomes. The study reviewed 227 patients diagnosed with osteochondroma between January 2018 and January 2022, with 21 patients meeting inclusion criteria: under 19 years, MPTO, surgical excision, histological diagnosis, ≥1-year follow-up. Cases with irregular follow-ups and multiple hereditary exostoses were excluded. Different surgical techniques were employed based on lesion characteristics. Postoperative weight bearing was allowed, and follow-ups involved postoperative complications assessment, clinical data collection, imaging, and functional evaluations using the International Knee Documentation Committee (IKDC) and Hospital for Special Surgery Pediatric Functional Activity Brief Scale scoring systems. The study involved 21 adolescents (15 ± 2 years). Lesion types were predominantly pedunculated (86%) and surgical interventions involved pes anserinus split (76%) or tenoplasty (24%). No significant correlations were observed between lesion dimensions and IKDC scores. Split intervention led to a significant improvement in IKDC scores (p < 0.01), while tenoplasty showed similar results (p < 0.05). Athlete status did not affect IKDC scores significantly, but both athletes and non-athletes demonstrated improvements (p < 0.05). The negative impact of MPTOs causing pes anserinus tendinitis on the patient's quality of life and activity can be completely corrected with surgical treatment. Complete pes anserinus tendon cutting and subsequent repair are recommended if they facilitate surgery. The study underscores the importance of surgical management for MPTO-related pes anserinus syndrome and provides insights into the effectiveness of different surgical techniques.

“Mucosal infection with tsukamurella species following nasal septum procedure: a rare case report”

Introduction and Importance: Tsukamurella species are rare, aerobic, Gram-positive bacteria known to cause infections, primarily in immunocompromised individuals. This case report presents a rare instance of a mucosal infection caused by Tsukamurella species following a nasal septum procedure in an immunocompetent patient. Case Presentation: A 51-year-old man with a history of multiple hereditary exostosis, allergic rhinitis, and recent nasal fracture repair presented with persistent fevers and low back pain. Postoperatively, he developed sinus pain and small oral lesions, initially treated with antibiotics for presumed sinusitis. Despite treatment, his fever persisted, leading to an emergency department visit. Laboratory tests indicated sepsis, but a CT scan of the sinuses showed no sinusitis. Despite broad-spectrum antibiotics, the patient’s fever continued. On admission day 9, nasal endoscopy and culture identified Tsukamurella species. The patient was treated with Augmentin, fluconazole, and levofloxacin, leading to resolution of symptoms and discharge with ongoing treatment. Clinical Discussion: Tsukamurella species are uncommon pathogens that are often associated with bacteremia in immunocompromised individuals. This case highlights the diagnostic challenges and importance of considering unusual pathogens in post-procedural infections, even in immunocompetent patients. Accurate identification and appropriate management are critical in improving outcomes for patients with Tsukamurella infections. Conclusion: This case underscores the need for vigilance in diagnosing rare infections like Tsukamurella, even in immunocompetent individuals. The successful resolution with combination therapy highlights the importance of appropriate antibiotic selection in managing such infections.

A Case of Hereditary Multiple Exostoses: Role of FNAC in diagnosis

Abstract Hereditary Multiple Exostoses (HME) is a rare autosomal dominant bone disease. It is characterized with numerous benign osteochondromas, which grow outward from the metaphyses of long bones. In many cases it is asymptomatic but can lead to considerable number of complications, like pressure symptoms, limb deformities, and can cause psychosocial problems. Malignant transformation is rarely seen. Surgery is the main modality of treatment.This paper aims to highlight the role of FNAC in diagnosis of HME.

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).

Hereditary multiple exostoses with cervical spine involvement: a case report

Introduction and Importance: Hereditary multiple exostoses (HME) is a rare genetic disorder characterized by the formation of multiple benign bone tumors known as osteochondromas. Management of HME involves a multidisciplinary approach encompassing surgical expertise and genetic counseling. This case report highlights the significance of such an approach in optimizing outcomes for patients with HME, emphasizing the importance of individualized treatment strategies and future management. Case Presentation: We present the case of a 12-year-old male patient with a history of HME, who presented with symptoms including progressively enlarging and painful mass at the posterior aspect of his neck since last year. Surgical intervention was undertaken to address symptomatic lesions, focusing on preserving joint function and alleviating discomfort. The surgical approach involved careful consideration of lesion characteristics and their impact on surrounding structures. Clinical Discussion: The case shows the importance of a tailored surgical approach in managing symptomatic osteochondromas associated with HME, highlighting the need for careful consideration of lesion characteristics and their impact on joint function. By integrating surgical expertise with genetic counseling, clinicians can optimize outcomes while addressing familial implications and ensuring informed decision-making. Conclusion: This case report illustrates the significance of a multidisciplinary approach encompassing surgical intervention and genetic counseling in the management of hereditary multiple exostoses. Through individualized treatment strategies and informed decision-making, clinicians can optimize outcomes for patients with HME while providing comprehensive support and guidance for future management.

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

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. 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. 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). 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. Our classification system addresses the limitations of existing classifications by risk stratifying forearms into three groups-high, moderate, and low-risk of RHD.

Hereditary multiple exostosis

No abstract available

A Case Report of Anesthetic Management for Excision of Thoracic Vertebral Osteochondroma in a Patient with Hereditary Multiple Exostoses

A Case Report of Anesthetic Management for Excision of Thoracic Vertebral Osteochondroma in a Patient with Hereditary Multiple Exostoses

Pain and fatigue in adult patients with multiple osteochondromas: The Netherlands.

Multiple Osteochondromas (MO) is a rare genetic disorder characterised by the presence of numerous benign bone tumours, known as osteochondromas. Within the spectrum of debilitating symptoms associated with MO, pain is recognized as a major problem. Interestingly, our clinical observations suggest that fatigue is also a significant concern but has merely been touched upon in MO literature. This study aims to (1) assess the level of pain and fatigue in adult patients with MO; (2) compare fatigue in MO to healthy subjects and patients with Rheumatoid Arthritis (RA); (3) identify associated variables for pain and fatigue in patients with MO. In this cross-sectional study, 353 adult MO patients completed a survey with validated questionnaires on pain, fatigue and psychosocial factors. Pain and fatigue were assessed with the Numeric Rating Scale (NRS), and fatigue was also measured with the Checklist Individual Strength (CIS). Fatigue (CIS) was compared with reference scores of healthy subjects and patients with RA, using a one-sample t-test. Multiple linear regression models for pain and fatigue were developed using a-priori selected independent variables based on a theoretical framework (ICF-model). Pain was reported by 87.8% (NRS = 3.19±2.6) and fatigue by 90.4% (NRS = 4.1±2.6) of patients with MO. Fatigue scores for MO (CIS = 84.1±15.3) were significantly higher (p<0.001) compared to reference scores of healthy subjects and patients with RA. The multivariable analysis for pain provided a final regression model with six variables (R2 = 0.445, p<0.001) of which fear avoidance beliefs and fatigue had the strongest association. For the fatigue models NRS (R2 = 0.455, p<0.001) and CIS (R2 = 0.233, p<0.001), the strongest associations were found with anxiety and depression respectively. Pain and fatigue are highly prevalent in patients with MO. Fatigue is significantly higher compared to healthy subjects and patients with RA. Several variables associated with pain and fatigue have been identified that could help improve multidisciplinary treatment plans.