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Molecular and Clinical Oncology Feb 2024Multiple osteochondromas (MOs) are inherited in an autosomal-dominant manner, with a penetrance of ~96 and 100% in female and male patients, respectively....
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.
PubMed: 38213658
DOI: 10.3892/mco.2023.2711 -
Cureus Nov 2023Osteochondromas (OCs) are bone lesions composed of cartilaginous and medullary bone capped with hyaline cartilage. OCs result from the separation of epiphyseal growth...
Osteochondromas (OCs) are bone lesions composed of cartilaginous and medullary bone capped with hyaline cartilage. OCs result from the separation of epiphyseal growth plate cartilage, pushing through the periosteal bone cuff. They commonly appear as pedunculated or sessile masses in the metaphysis of long bones and are the most common benign bone tumors. While rare in the scapula, OCs can occur there. Symptoms may arise from fractures, osseous abnormalities, or potential malignant transformation, especially in the presence of hereditary multiple exostoses (HME). The estimated rate of malignant transformation in solitary lesions is 1%, whereas in hereditary multiple OCs, it can reach up to 3-5%. We report a case of a 10-year-old female who presented with a gradually progressive swelling on the back of her right scapula. This progressive growth has been observed over the course of the past two years accompanied by mild pain. The pain was intermittent and did not affect her daily activities. On examination, a hard, tender, non-mobile swelling of approximately 2 × 2 cm was found over the right scapula. The patient had a normal range of motion in the shoulder and scapulothoracic regions. In conclusion, since solitary scapular OCs are extremely rare, they are quite common when associated with HME. This study aimed to increase awareness of the unusual site of OCs. Furthermore, we have included a full account of the surgical therapy we administered to this patient in order to assist future surgeons who may come across similar conditions.
PubMed: 38156180
DOI: 10.7759/cureus.49582 -
Journal of Vascular Surgery Cases and... Feb 2024Exostosis (also known as osteochondroma) is the most common benign bony lump of young people, usually arising at the distal femur. Vascular complications associated with...
Exostosis (also known as osteochondroma) is the most common benign bony lump of young people, usually arising at the distal femur. Vascular complications associated with exostoses are rare and include true aneurysm or pseudoaneurysm formation, deep vein thrombosis, arteriovenous fistula, and arterial insufficiency of the limbs. Few case reports describe pseudoaneurysms resulting from exostoses in mature adults, and no consensus has been reached regarding the optimal therapy. We report the case of a 51-year-old male patient complaining of persistent right thigh pain with a pulsatile mass and right calf swelling, without a history of trauma or hereditary multiple exostoses. The diagnosis was confirmed by computed tomography angiography, which showed a pseudoaneurysm of the popliteal artery resulting from an exostosis on the lateral aspect of the distal femur. A Doppler ultrasound examination confirmed popliteal vein thrombosis caused by the compression of the pseudoaneurysm. Surgical treatment consisted of removing the exostosis, excision of the pseudoaneurysm, and an end-to-end anastomosis. The deep vein thrombosis was treated with rivaroxaban for 3 months. The patient was discharged after 6 days and followed up for 6 months with satisfactory results.
PubMed: 38130363
DOI: 10.1016/j.jvscit.2023.101375 -
Surgical Neurology International 2023Hereditary multiple osteochondromas (HMOs) are a rare genetic disorder characterized by the formation of multiple benign osteochondromas that can undergo malignant...
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 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.
PubMed: 38053698
DOI: 10.25259/SNI_797_2023 -
World Neurosurgery Feb 2024The objective of this study was to determine the long-term outcomes of microendoscopic foraminotomy in treating lumbar foraminal stenosis and identify the optimal extent...
Outcomes and Vertebral Osteophytes and Bulging Intervertebral Discs Occupancy as a Decision-Making Tool for Surgical Success in Patients Undergoing Microendoscopic Foraminotomy for Lumbar Foraminal Stenosis.
OBJECTIVE
The objective of this study was to determine the long-term outcomes of microendoscopic foraminotomy in treating lumbar foraminal stenosis and identify the optimal extent of decompression that yields improved results and fewer complications.
METHODS
A retrospective cohort study reviewed the medical records of 95 consecutive patients who underwent microendoscopic foraminotomy for lumbar foraminal stenosis. Clinical outcomes were assessed using the Japanese Orthopaedic Association scoring system and visual analog scale for low back and leg pain. Surgical success was determined by meeting significant improvement thresholds for back and leg pain at 2 years postoperatively. Multiple regression analysis identified factors associated with improved pain scores. Receiver operating characteristic curve analysis determined the cut-off values for successful surgeries.
RESULTS
Significant improvements were observed in Japanese Orthopaedic Association and visual analog scale scores for back and leg pain 2 years postoperatively compared with preoperative scores (P < 0.0001) and sustained over a ≥5-year follow-up period. Reoperation rates were low and did not significantly increase over time. Multiple regression analysis identified occupancy of the vertebral osteophytes and bulging intervertebral discs (O/D complex) as surgical success predictors. A 45.0% O/D complex occupancy cutoff value was determined, displaying high sensitivity and specificity for predicting surgical success.
CONCLUSIONS
This study provides evidence supporting the long-term efficacy of microendoscopic foraminotomy for lumbar foraminal stenosis and predicting surgical success. The 45.0% O/D complex occupancy cut-off value can guide patient selection and outcome prediction. These insights contribute to informed surgical decision-making and underscore the importance of evaluating the O/D complex in preoperative planning and predicting outcomes.
Topics: Humans; Foraminotomy; Decompression, Surgical; Constriction, Pathologic; Spinal Stenosis; Osteophyte; Retrospective Studies; Treatment Outcome; Lumbar Vertebrae; Exostoses; Intervertebral Disc; Pain
PubMed: 38052363
DOI: 10.1016/j.wneu.2023.11.150 -
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 -
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 -
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