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Journal of Pediatric OrthopedicsGenu valgum is a well-known feature of multiple hereditary exostoses (MHE). Though prior reports have demonstrated successful treatment with hemiepiphysiodesis, details...
BACKGROUND
Genu valgum is a well-known feature of multiple hereditary exostoses (MHE). Though prior reports have demonstrated successful treatment with hemiepiphysiodesis, details regarding the correction rate and comparison to an idiopathic population are lacking. This study aimed to detail our institution's experience with guided growth of the knee in patients with MHE and compare this to an idiopathic population.
METHODS
All pediatric patients (age 18 and younger) with MHE who underwent lower extremity hemiepiphysiodesis at a tertiary care medical center between January 2016 and December 2022 were retrospectively reviewed. Preoperative and postoperative mechanical lateral distal femoral angle (mLDFA) and medial proximal tibial angle (MPTA, the primary outcomes) were measured in addition to mechanical axis deviation (MAD) and hip-knee-ankle angle (HKA). Patients were 1:2 matched based on age, sex, and physes instrumented to a cohort with idiopathic genu valgum.
RESULTS
A total of 21 extremities in 16 patients with MHE underwent hemiepiphysiodesis of the distal femur, proximal tibia, and/or distal tibia. The mean age at surgery was 11.7±2.2 years. Mean MAD corrected from zone 1.9±0.7 to -0.3±1.5, while mLDFA corrected from 83.4±2.9 to 91.7±5.2 degrees and MPTA corrected from 95.3±3.6 to 90.5±4.0 degrees in distal femurs and proximal tibias undergoing guided growth, respectively. Three extremities (14.3%) experienced overcorrection ≥5 degrees managed with observation. There were no differences in correction rates per month for mLDFA (0.54±0.34 vs. 0.51±0.29 degrees, P =0.738) or MPTA (0.31±0.26 vs. 0.50±0.59 degrees, P =0.453) between MHE and idiopathic groups. For 11 extremities in the MHE group with open physes at hardware removal, they experienced a mean recurrence of HKA of 4.0±3.4 degrees at 19-month follow-up.
CONCLUSION
Hemiepiphysiodesis corrects lower extremity malalignment in patients with MHE at a similar rate compared with an idiopathic coronal plane deformity population. Rebound deformity of 4 degrees at 19 months after hardware removal in patients with remaining open growth plates should make surgeons conscious of the remaining growth potential when planning deformity correction.
LEVEL OF EVIDENCE
Level III.
Topics: Humans; Child; Adolescent; Genu Valgum; Exostoses, Multiple Hereditary; Retrospective Studies; Tibia; Knee Joint; Femur
PubMed: 38450657
DOI: 10.1097/BPO.0000000000002654 -
Orphanet Journal of Rare Diseases Feb 2024Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal...
BACKGROUND
Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary peripheral chondrosarcoma, a malignant cartilaginous neoplasm that arises from the chondroid cap of pre-existent osteochondromas. We conducted a retrospective cohort study on patients diagnosed and followed up from 1960 to 2019 to describe the clinical and pathological features of individuals affected by peripheral chondrosarcoma in multiple osteochondromas, to evaluate follow up information and individual outcome and to compare the results with literature. Data, including age, gender, site, histological grade, cartilage cap thickness, surgical treatments, surgical margins, genotype mutational status as well as treatment details were captured from the hospital electronic health records and from Registry of Multiple Osteochondromas. In addition, a complete histological review of all hematoxylin and eosin (H&E)-stained sections has been performed by expert pathologists.
RESULTS
One hundred five of the screened cases were included in the present study. The age at diagnosis of SPC ranges from 13 to 63, with median age at diagnosis of 34 years. The site most frequently affected by malignant degeneration was the pelvis (46 patients, 44%) with higher incidence in male patients (32 males vs.14 females). The second one was lower limbs (including femur, fibula, or tibia), identified in 35 patients. Histological information - available for 103 patients - showed: 59 patients with grade 1; 40 patients had a grade 2 and 4 patients had a grade 3. The most common surgical treatment was the complete resection, followed by debulking, amputation and partial resection. Most of cases did not have recurrence of the disease. Outcome in disease-free survival highlights that a worse course of the disease was associated with histological grade 2 or 3, and partial resection surgery. In most of analyzed cases (94%) a pathogenic variant was identified.
CONCLUSIONS
In conclusion, the present study gives an overview of the secondary peripheral chondrosarcomas, confirming that this disease represents an impacting complication for multiple osteochondromas patients and suggests that malignant transformation can occur also in younger patient, in a not irrelevant number of cases.
Topics: Female; Humans; Male; Adult; Exostoses, Multiple Hereditary; Retrospective Studies; Chondrosarcoma; Osteochondroma; Disease-Free Survival; Bone Neoplasms
PubMed: 38351015
DOI: 10.1186/s13023-023-03006-8 -
Romanian Journal of Ophthalmology 2023To describe the ophthalmological management of a girl diagnosed with Stuve Wiedemann syndrome (SWS). Clinical and in vivo confocal microscopy (IVCM) are described....
To describe the ophthalmological management of a girl diagnosed with Stuve Wiedemann syndrome (SWS). Clinical and in vivo confocal microscopy (IVCM) are described. Case report of a 6-year-old girl, who presented with neurotrophic keratitis and was treated with intense lubrication including heterologous serum and tear plugs. In the following months, the evolution of the neurotrophic keratitis was good, but a hypertrophic corneal leukoma persisted with mild neovascularization in the left eye. Close ophthalmological follow-up in patients with SWS is needed, given that most of the time they do not present symptoms due to the characteristic neuropathy of their lesions. SWS = Stuve-Wiedemann syndrome, IVCM = in vivo confocal microscopy, CNTF = ciliary neurotrophic factor, BCVA = best corrected visual acuity, LIFR = Leukemia Inhibitory Factor Receptor, IGF1 = Insulin-like growth factor-1.
Topics: Female; Humans; Child; Exostoses, Multiple Hereditary; Cornea; Osteochondrodysplasias; Keratitis; Microscopy, Confocal
PubMed: 38239413
DOI: 10.22336/rjo.2023.66 -
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 -
JBJS Case Connector Jan 2024A 19-year-old man with Multiple Hereditary Exostoses presented with cervical pain without neurological symptoms and/or signs. Magnetic resonance revealed a large C2...
CASE
A 19-year-old man with Multiple Hereditary Exostoses presented with cervical pain without neurological symptoms and/or signs. Magnetic resonance revealed a large C2 osteochondroma, occupying a part of the medullary canal. He was submitted to an en bloc resection with hemilaminectomy without fusion. At the 1-year follow-up, he presented resolution of pain and no neurological symptoms or signs, without cervical instability or radiological signs of disease recurrence.
CONCLUSION
Cervical osteochondroma is usually asymptomatic. Neurological compression and differentiation to chondrosarcoma are the main concerns. Surgical excision allows the local cure of the disease and is usually performed without fusion.
Topics: Humans; Male; Young Adult; Exostoses, Multiple Hereditary; Neoplasm Recurrence, Local; Osteochondroma; Spinal Neoplasms; Treatment Outcome
PubMed: 38207085
DOI: 10.2106/JBJS.CC.23.00429 -
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 -
Clinical Oral Investigations Dec 2023To investigate factors influencing postoperative bleeding occurrence after dental extraction in older patients receiving anticoagulation therapy.
OBJECTIVES
To investigate factors influencing postoperative bleeding occurrence after dental extraction in older patients receiving anticoagulation therapy.
MATERIALS AND METHODS
This retrospective study included patients aged ≥ 65 years receiving one of the following anticoagulants: apixaban, edoxaban, rivaroxaban, and warfarin. Patients who underwent one to multiple tooth extractions in the geriatric dentistry clinic at Tokyo Medical and Dental University Hospital between August 1, 2016, and November 30, 2020, were included. The outcome variable was postoperative bleeding occurrence. Logistic regression analysis was performed with the following ten factors as explanatory variables: age, sex, maximum systolic blood pressure during the extraction, type of local anesthesia, vertical incision, osteotomy, usage of surgical splints, the mesiodistal width of the extracted tooth on a radiograph, use of antiplatelet agents, and history of diabetes requiring medication.
RESULTS
Among 395 participants (mean age, 82.3 ± 6.5 years) included in this study, 75 patients experienced postoperative bleeding after tooth extraction. Logistic regression analysis revealed that the odds ratios for the vertical incision (18.400, p < 0.001), osteotomy (3.630, p = 0.00558), usage of surgical splints (1.860, p = 0.0395), and the mesiodistal width of the extracted tooth on a radiograph (1.060, p = 0.0261) were statistically significant.
CONCLUSIONS
For dental extraction in older patients receiving anticoagulants, postoperative bleeding is more likely to occur in patients with vertical incision, osteotomy, and posterior or multiple tooth extractions.
CLINICAL RELEVANCE
Dentists should consider suturing and adjunctive hemostatic procedures for patients undergoing vertical incision, osteotomy, and multiple tooth extractions while receiving anticoagulation therapy to minimize the risk of postoperative bleeding.
Topics: Humans; Aged; Aged, 80 and over; Retrospective Studies; Postoperative Hemorrhage; Dental Care; Warfarin; Anticoagulants; Exostoses
PubMed: 38147161
DOI: 10.1007/s00784-023-05424-1 -
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