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European Journal of Medical Genetics Feb 2024The Italian patient association for Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome, Associazione Conto Alla Rovescia-ACAR Aps, conducted a mixed-methods...
The Italian patient association for Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome, Associazione Conto Alla Rovescia-ACAR Aps, conducted a mixed-methods study at its 2023 annual conference. The study included the Open Dialogue Approach and a feedback survey to identify the main priorities in the transitioning process from paediatric to adult healthcare for patients with Multiple Osteochondromas, Ollier Disease, and Maffucci Syndrome. The common needs identified by patients, families, caregivers, and healthcare professionals were coordination and continuity of care, patient empowerment and communication, social and practical support, and transition planning and support. This experience fostered a sense of collaboration and cooperation among stakeholders, helping to build trust and create a shared vision for improving the quality of care for these patients. Furthermore, it could be considered a starting point for other patient associations interested in using different approaches to identify the needs of their members and actively involve all stakeholders.
Topics: Adult; Humans; Child; Enchondromatosis; Exostoses, Multiple Hereditary; Delivery of Health Care; Communication
PubMed: 38040052
DOI: 10.1016/j.ejmg.2023.104891 -
Asian Journal of Surgery Feb 2024
Topics: Child; Humans; Exostoses, Multiple Hereditary; Osteochondroma; Bone Neoplasms
PubMed: 38008625
DOI: 10.1016/j.asjsur.2023.11.071 -
European Journal of Orthopaedic Surgery... Feb 2024Multiple hereditary exostosis (MHE) is a rare autosomal dominant disorder characterized by multiple osteochondromas. There is a paucity of literature concerning total...
BACKGROUND
Multiple hereditary exostosis (MHE) is a rare autosomal dominant disorder characterized by multiple osteochondromas. There is a paucity of literature concerning total hip arthroplasty (THA) in patients with MHE. The aim of this study is to report long-term outcomes of THA in patients with MHE.
METHODS
Fourteen patients undergoing 15 THA's for the treatment of osteoarthritis in the presence of osteochondromas and proximal femoral deformity secondary to MHE were reviewed. Mean age at the time of surgery and follow-up was 56 and 12 years. Seven (47%) had uncemented femoral components. Eleven hips had coxa valga on preoperative imaging. Clinical outcomes were assessed with both Harris hip scores (HHS) and Musculoskeletal Tumor Society Scores (MSTS).
RESULTS
Following surgery, there was an improvement in the HHS (48-82, p < 0.01) and MSTS scores (41-70%, p < 0.01). Complications occurred in 5 patients leading to reoperation in 3 patients, of which 2 patients underwent a revision procedure at 19 and 20-years postoperative. The 10-year revision free survival was 100%.
CONCLUSIONS
THA in the setting of MHE reliably improves patient function. One in three patients will have a postoperative complication; however, the long-term incidence of revision is low.
Topics: Humans; Arthroplasty, Replacement, Hip; Hip Joint; Exostoses, Multiple Hereditary; Treatment Outcome; Coxa Valga; Reoperation; Retrospective Studies; Hip Prosthesis; Follow-Up Studies
PubMed: 37978058
DOI: 10.1007/s00590-023-03780-y -
Cureus Oct 2023Multiple hereditary exostosis syndrome is a rare diagnosis with approximately 1:50000 incidence prevailing in males. The exostoses or osteochondromas are benign but have...
Multiple hereditary exostosis syndrome is a rare diagnosis with approximately 1:50000 incidence prevailing in males. The exostoses or osteochondromas are benign but have the potential for malignant transformation in 1-5%. There is a strong genetic component, with exostosis (EXT) signaling pathways being an underlying cause. They can be symptomatic, with pain and functional deficit as the main complaints. We present a case of a 17-year-old male who presented with pain and anatomical deformity in his left lower femur. Magnetic resonance imaging revealed multiple osteochondromas compressing the popliteal neurovascular bundle. Excision of the osteochondromas was performed to decompress the neurovascular bundle in a multidisciplinary approach. Histological examination demonstrated no evidence of malignancy. Currently, there is no consensus for patients diagnosed with multiple osteochondromas regarding further investigation and/or screening for malignant transformation.
PubMed: 37927696
DOI: 10.7759/cureus.46396 -
Indian Journal of Orthopaedics Nov 2023Hereditary multiple exostoses (HME) Masada IIB has traditionally been treated by gradual ulnar lengthening with questionable efficacy in reducing the dislocated head....
INTRODUCTION
Hereditary multiple exostoses (HME) Masada IIB has traditionally been treated by gradual ulnar lengthening with questionable efficacy in reducing the dislocated head. One-bone forearm (OBF) has been used as a reconstructive procedure in forearm deformities with very scarce literature for HME. The study aims to report short-term results of OBF as a definitive procedure for severe forearm deformities in Masada IIB patients with respect to clinical and radiological parameters.
MATERIALS AND METHODS
Four patients with HME Masada IIb were included in this retrospective study. All patients complained of forearm and wrist deformity with an abnormal bony protrusion restricting elbow motion. Indications for OBF were ulnar shortening > 3 cm, dysplastic proximal radius with convex radial head and restricted prono-supination. All patients were examined pre-operatively and post-operatively clinically and radiographically using the Peterson's outcome score.
RESULTS
The average age was 13 years (12-14 years). Pre-operative ulnar shortening, carpal slip percentage, and radial articular angle was 3.4 cm, 79.5%, and 47.5°, respectively. All radial heads were dislocated with convex articular surface restricting elbow extension and forearm prono-supination. At the latest follow-up, the mean elbow flexion was 110° with forearm in 10° supination. The mean carpal slip percentage, radial articular angle, and Peterson functional grade was 15%, 22.5°, and 8 points, respectively. The mean follow-up period was 30.25 months with no recurrence.
CONCLUSION
We recommend one bone forearm as a definitive procedure in HME Masada IIB patients with severe forearm deformities with ulnar shortening > 3 cm and dysplastic proximal radius with a dislocated radial head, for faster return to function.
PubMed: 37881291
DOI: 10.1007/s43465-023-00968-6 -
JBJS Case Connector Oct 2023A 5-year-old boy presented with multiple bony swellings in the dorsal spine region, restricted left shoulder movement, and a previous misdiagnosis of hereditary multiple...
CASE
A 5-year-old boy presented with multiple bony swellings in the dorsal spine region, restricted left shoulder movement, and a previous misdiagnosis of hereditary multiple exostoses (HMEs) resulting in unnecessary excision of the right scapular lesion. Clinical examination revealed hallux valgus, brachydactyly, and limited neck movement. Radiography and computed tomography confirmed a diagnosis of fibrodysplasia ossificans progressiva (FOP).
CONCLUSION
This case report underscores the importance of accurate diagnosis and differentiation between FOP and HME. Hallux valgus, brachydactyly, and restricted neck movement suggested FOP. It is paramount for orthopaedic surgeons to exclude rare disorders before performing any interventions. Biopsies or resections of bone formation areas should be avoided for patients with FOP.
Topics: Male; Humans; Child, Preschool; Myositis Ossificans; Hallux Valgus; Brachydactyly; Radiography; Tomography, X-Ray Computed
PubMed: 37797171
DOI: 10.2106/JBJS.CC.23.00327 -
Clinical Imaging Nov 2023Osteochondromas account for 20%-50% of all benign bone lesions. These tumors may present as solitary non-hereditary lesions, which are the most common presentation, or... (Review)
Review
Osteochondromas account for 20%-50% of all benign bone lesions. These tumors may present as solitary non-hereditary lesions, which are the most common presentation, or as multiple tumors associated with hereditary conditions. Plain radiography is the imaging method of choice and demonstrates the typical cortical and medullary continuity of the tumor with the underlying bone. Magnetic resonance imaging is often performed to evaluate cartilage cap thickness, which correlates with malignant transformation. Other local complications include compression of adjacent neurovascular bundles, muscles, and tendons, bursitis, tendon tears, stalk fracture, and angular or rotational long bone deformities. Although the imaging features of osteochondromas are largely known, only a few papers in the literature have focused on their main complications and image-based follow-up. This paper aimed to illustrate the main complications of osteochondromas, suggest an image-based algorithm for management and follow-up and discuss differential diagnosis.
Topics: Humans; Exostoses, Multiple Hereditary; Bone Neoplasms; Osteochondroma; Magnetic Resonance Imaging; Toes
PubMed: 37778187
DOI: 10.1016/j.clinimag.2023.109989 -
International Journal of Surgery Case... Sep 2023Osteochondromas, the most common benign tumors of the appendicular skeleton, are uncommonly found in the spine. Although the cervical spine is the most frequent location...
INTRODUCTION AND IMPORTANCE
Osteochondromas, the most common benign tumors of the appendicular skeleton, are uncommonly found in the spine. Although the cervical spine is the most frequent location of spinal osteochondromas, the lower cervical spine is less commonly affected.
CASE PRESENTATION
We present the case of a 16-year-old female adolescent who presented with a hard palpable mass over the nape of the neck more toward the right side associated with non-radiating pain for 3 years. Radiography and computed tomography (CT) revealed an expansile bone lesion arising from the sixth cervical spinous process (C6). En-bloc resection of the tumor was performed, which alleviated her symptoms. A histopathological examination revealed the presence of an osteochondroma without any features suggestive of malignancy.
CLINICAL DISCUSSION
Osteochondroma is a common benign bone tumor, mainly found in the appendicular skeleton, with rare occurrences in the spine. It can be solitary or associated with multiple hereditary exostoses (MHE). The cervical spine is the most affected area, and its symptoms vary depending on its location. Diagnosis involves imaging, and surgical excision is recommended for symptomatic cases to prevent neurological compromise, and recurrence, and to confirm the diagnosis by histopathology.
CONCLUSION
Diagnosing rare conditions such as cervical osteochondroma requires a high level of clinical suspicion and the assistance of imaging techniques in patients exhibiting relevant symptoms. Optimal outcomes were achieved using en bloc resection.
PubMed: 37657384
DOI: 10.1016/j.ijscr.2023.108729 -
Journal of Pediatric Orthopedics Sep 2023Hemi-epiphysiodesis is the mainstay of treatment for angular deformities at the knee in children with multiple hereditary exostosis (MHE). Upon deformity correction, the...
BACKGROUND
Hemi-epiphysiodesis is the mainstay of treatment for angular deformities at the knee in children with multiple hereditary exostosis (MHE). Upon deformity correction, the metaphyseal screw may be removed from the hemi-epiphysiodesis plate, the sleeper plate technique, with anticipated reimplantation of the metaphyseal screw should the original deformity recur. The aim of the present study is to compare the incidence of complications with the sleeper plate technique with complete plate removal in an MHE cohort.
METHODS
Patients under the age of 18 with MHE who underwent hemi-epiphysiodesis of the proximal tibia and/or distal femur between February 1, 2016, and February 6, 2022 with a minimum 2-year follow-up or follow-up to skeletal maturity were identified via ICD-10 codes. Patient charts and radiographic images were reviewed to assess for the bone(s) treated, the use of sleeper plates, and whether any complication occurred, including overcorrection from bony ingrowth at the empty holes or deformity recurrence.
RESULTS
In 13 patients, 19 knees underwent hemi-epiphysiodesis at 30 sites; 13 distal femoral and 17 proximal tibial. Of 30 plates, 18 (60%) were removed completely upon deformity correction and 3 (10%) did not require removal due to skeletal maturity. Four of 13 (30.8%) femoral plates and 5 of 17 (29.4%) tibial plates were left as sleeper plates. All 5 tibial sleeper plates developed bony ingrowth into the empty metaphyseal screw hole, which led to unintended progressive deformity overcorrection. In the majority of cases, the deformity was addressed by the removal of the plate and exophytic bone and hemi-epiphysiodesis on the other side of the affected proximal tibia with subsequent resolution of the deformity.
CONCLUSIONS
All tibial sleeper plates developed bony ingrowth into the screwless metaphyseal hole. The bony ingrowth functioned as a tether, resulting in progressive deformity overcorrection. Sleeper plates should be avoided at the proximal tibia in patients with MHE, and extreme caution should be exercised when considering this technique at the distal femur or other sites.
LEVELS OF EVIDENCE
Level III-retrospective comparative study.
Topics: Child; Humans; Retrospective Studies; Tibia; Femur; Lower Extremity; Exostoses, Multiple Hereditary; Bone Plates
PubMed: 37469302
DOI: 10.1097/BPO.0000000000002458 -
World Journal of Clinical Cases Jun 2023Hereditary multiple exostoses is a rare genetic disorder characterized by the growth of multiple osteochondromas affecting primarily long bones. Chest wall lesions may...
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.
PubMed: 37388792
DOI: 10.12998/wjcc.v11.i17.4123