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Radiology Case Reports Aug 2024Synovial chondromatosis is a rare benign condition defined by the presence of cartilaginous lesions in the synovium of joints, tendon sheaths, and bursae. It most...
Synovial chondromatosis is a rare benign condition defined by the presence of cartilaginous lesions in the synovium of joints, tendon sheaths, and bursae. It most typically affects large joints, such as the knee, hip, and shoulder, but it is also reported in smaller joints. Nonetheless, ankle involvement is relatively uncommon. A complete history and clinical, physical, and radiographic examinations are usually used to determine the diagnosis. Hence, we reported a case of a young patient with left ankle primary synovial chondromatosis who presented with a left ankle mass and chronic pain.
PubMed: 38800078
DOI: 10.1016/j.radcr.2024.04.048 -
Radiology Case Reports Aug 2024We present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh....
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.
PubMed: 38737181
DOI: 10.1016/j.radcr.2024.04.012 -
Cureus Mar 2024We 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...
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.
PubMed: 38646370
DOI: 10.7759/cureus.56642 -
International Journal of Surgery Case... May 2024Multiple 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...
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.
PubMed: 38626641
DOI: 10.1016/j.ijscr.2024.109633 -
Radiology Case Reports Jun 2024Diaphragmatic 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...
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.
PubMed: 38585397
DOI: 10.1016/j.radcr.2024.03.039 -
Journal of Orthopaedic Case Reports Mar 2024Synovial chondromatosis (SC) is very rare among children. We are aware of no reports of patients with SC accompanied by leg length discrepancy (LLD).
INTRODUCTION
Synovial chondromatosis (SC) is very rare among children. We are aware of no reports of patients with SC accompanied by leg length discrepancy (LLD).
CASE REPORT
We describe a case of synovial osteochondromatosis of a 7-year-old boy complicated by LLD. We performed epiphysiodesis of the distal femur and arthroscopic resection of loose bodies and total synovectomy. Three years after surgery, LLD had been corrected and there was no sign of recurrence.
CONCLUSION
Physicians should be aware of synovial osteochondromatosis complicated by LLD in childhood and take radiographs of the whole length of lower legs when this condition is suspected.
PubMed: 38560319
DOI: 10.13107/jocr.2024.v14.i03.4280 -
Orthopedic NursingHereditary multiple exostosis (HME) is a rare genetic disorder characterized by multiple bony spurs or lumps, commonly affecting the long bones. This case report exposes...
Hereditary multiple exostosis (HME) is a rare genetic disorder characterized by multiple bony spurs or lumps, commonly affecting the long bones. This case report exposes the clinical presentation, diagnosis, and management of HME in a 28-year-old female nurse, who initially presented with persistent bilateral knee pain. After extensive evaluation involving orthopaedic and oncology specialists, the diagnosis of HME was made. Despite the discovery of multiple exostoses, the patient reported improvement following a tailored physiotherapy regimen. This case study underscores the complexity and broad spectrum of symptoms associated with HME. It emphasizes the importance of a multidisciplinary approach in diagnosing and managing such conditions, which can lead to better patient outcomes and an improved quality of life. By shedding light on the role of physiotherapy in managing rare genetic disorders such as HME, this case report contributes to the growing body of literature exploring noninvasive treatment options for these diseases.
Topics: Female; Humans; Adult; Exostoses, Multiple Hereditary; Quality of Life; Orthopedics; Pain
PubMed: 38546687
DOI: 10.1097/NOR.0000000000001018 -
Quality of Life Research : An... May 2024To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients. (Observational Study)
Observational Study
PURPOSE
To evaluate the health-related quality of life and associated risk factors for Multiple Osteochondromas patients.
METHODS
A cross-sectional, observational study was conducted from May to December 2022 during the routine visit to the referral center for rare skeletal disorders. All patients with Multiple Osteochondromas aged ≥ 3 years were included. EuroQol 5-dimension questionnaires, and demographic, clinical, and surgical history data were collected. Descriptive statistics, Fisher's exact test, One-sample t-test, Spearman's correlation, and multiple linear and logistic regression were performed to analyze the data. Results are reported following STROBE guidelines.
RESULTS
A total of 128 patients were included in the study, with a mean age of 14 [SD, 10] years. The mean EQ-5D Index Value was 0.863 [SD, 0.200] and the EQ-VAS was 84 [SD, 19] with a positive correlation between two scores [r = 0.541, p < 0.001]. Patients frequently referred problems in pain/discomfort [78.8%], anxiety/depression [50%], and usual activities [38.8%] dimensions. Increasing age was the common risk factor for health-related quality of life [p < 0.000], as well as Index Value and VAS scores were significantly lower in surgical patients [p = 0.001 and p < 0.001, respectively].
CONCLUSION
Increasing age and surgical procedures were found highly associated with reduced health-related quality of life in Multiple Osteochondromas patients. Our findings provide relevant information to support the establishment of patient-centered healthcare pathways and pave the way for further research into medical and non-medical therapeutic strategies for these patients.
Topics: Humans; Quality of Life; Cross-Sectional Studies; Male; Female; Risk Factors; Adolescent; Surveys and Questionnaires; Adult; Young Adult; Child; Exostoses, Multiple Hereditary; Child, Preschool; Middle Aged
PubMed: 38457053
DOI: 10.1007/s11136-024-03604-4 -
Clinical Case Reports Mar 2024Inguinal swelling should raise suspicion for hip joint osteochondromatosis. Early recognition, accurate diagnosis, and prompt surgical intervention are essential for...
Inguinal swelling should raise suspicion for hip joint osteochondromatosis. Early recognition, accurate diagnosis, and prompt surgical intervention are essential for optimizing patient outcomes.
PubMed: 38444919
DOI: 10.1002/ccr3.8637 -
Cureus Jan 2024Synovial chondromatosis is a rare and benign disorder that involves the synovial lining of joints, synovial sheaths and bursae. The synovial layer of the joint is...
Synovial chondromatosis is a rare and benign disorder that involves the synovial lining of joints, synovial sheaths and bursae. The synovial layer of the joint is affected by a metaplastic process which in turn converts it into cartilagenous tissue. Eventually, it gets dislodged and transformed into a loose body in the large joints. We report the case of a 24-year-old young athlete who presented with complaints of painful movements and restriction of joint movements associated with a growing deformity in the right knee joint. This case report aims to describe a rare synovial pathology that necessitated arthroscopic synovectomy and diagnostic arthroscopy to treat, particularly in younger individuals. The atypical feature, in this case, was metaplastic development from the peripheral joint capsule attached to the surrounding cartilage, which, to the extent that the authors are aware, has only been documented in one instance in the record. Magnetic resonance imaging (MRI) was performed which demonstrated evidence of the joint effusion, synovial hypertrophy and a loose calcific body just anterior of the distal femoral condyle causing pressure over the patellar tendon anteriorly as well as a hyper-dense cyst in the popliteal region. Treatment often requires partial or complete synovectomy with either an arthroscopic or open approach.
PubMed: 38420086
DOI: 10.7759/cureus.53173