Search Results (44)

Background/Objectives: Condylectomy is a delicate and intricate procedure commonly employed in the management of temporomandibular joint (TMJ) disorders, osteochondromas, condylar hyperplasia, hemimandibular hyperplasia, and other pathologies affecting the condylar region. The advent of surgical cutting guides has introduced a new dimension to condylectomy procedures as they enable surgeons to plan and execute precise cuts with a heightened level of accuracy. In the literature already exists cases of cutting guide-based condylectomy, but they only depend on the mere mirroring procedure in virtual planning, which has accuracy limitations because it does not consider asymmetry of peri-condylar structures at the level of the ramus, body, and mandibular angle. Methods: CAD-CAM orthodontic preparation through the NEMOFAB Software was performed to correct the canting of the occlusal plane, following the “orthodontic first” technique. The same software was used for VSP of the surgical cutting guide to perform the condylectomy, basing not to the mere mirroring of the opposite side but considering the whole condylar-TMJ-glenoid fossa structure. Results: At 6 months follow-up, the patient showed good occlusion and an almost totally recovered lower third symmetry as median-upper and lower interincisive lines coincide with each other and with the chin median. A good occlusal and masticatory outcome was obtained. The joint structure was preserved with remodeling of the glenoid cavity caused by the presence of the joint disc, which was preserved during surgery. Conclusions: The goal of this study is to propose a method of therapeutic management of condylar hyperplasia that benefits from accurate pre-operative orthodontic treatment (orthodontics first) to maximize the results of proportional condylectomy, reducing post-operative orthodontic care as well as any need for any adjuvant orthognathic surgery. A new virtual surgical planning method is also proposed for creating a cutting guide that not only takes advantage of the mirroring technique to accurately calculate the amount of condyle to be cut but also considers the entire condyle–TMJ complex to perform a condylectomy that is more precise. Full article

Background/Objectives: Hemimandibular hyperplasia (HH) associated with osteochondroma presents complex challenges in maxillofacial surgery, including facial asymmetry, occlusal instability, and temporomandibular joint (TMJ) dysfunction. Surgical interventions vary widely in approach and outcomes, underscoring the need for a systematic evaluation of effectiveness. This systematic review assesses the effectiveness of surgical approaches for managing HH associated with osteochondroma, focusing on techniques including condylectomy, orthognathic surgery, distraction osteogenesis, total joint replacement (TJR), and genioplasty. Methods: Following PRISMA 2020 guidelines, a comprehensive search was conducted in PubMed, Scopus, and Web of Science for studies published from 2000 to 2023. Eligibility criteria were based on the PICO framework, with primary outcomes evaluated for facial symmetry, occlusal correction, mandibular function, and recurrence rates. The Cochrane Risk of Bias Tool assessed study quality, while the GRADE framework evaluated the certainty of evidence. This review was not registered due to exclusion criteria for certain dental topics in PROSPERO. Results: Of 145 studies identified, 18 met inclusion criteria, totaling 214 patients. High and low condylectomy both effectively corrected asymmetry, with high condylectomy reducing recurrence risk but often requiring reconstruction. Orthognathic surgery, combined with condylectomy, significantly enhanced facial symmetry and occlusal function. Distraction osteogenesis proved valuable for mandibular lengthening in cases of severe deformities, while TJR offered definitive solutions for extensive joint involvement. Genioplasty corrected chin asymmetry, contributing to improved facial balance. Limitations included small sample sizes and variable follow-up durations. Conclusions: Surgical approaches tailored to individual patient needs show effectiveness in treating HH associated with osteochondroma, achieving functional and esthetic outcomes. Future studies should prioritize larger cohorts and standardized follow-up protocols to better assess long-term efficacy. Advances in 3D surgical planning and individualized treatment strategies show promise for optimized patient-specific care. Full article

Background/Objectives: One of the most important diagnostic tools in bone tumors is X-rays. Preliminary and, in the case of some benign lesions, definitive diagnoses are formed using this basic tool. Part of the decision making in this stage is based on statistical probability using the patient’s age, as well as the incidence and predilection sites of different entities. The information used today is based on older and fragmented data. To verify the underlying principles, we retrospectively evaluated all bone tumors in children and adolescents treated by our tertiary center in the last 20 years. Methods: For this retrospective study, patients under the age of 18 years suffering from histopathologically verified bone tumors were evaluated. Data were retrieved from our local musculoskeletal tumor database. Results: We were able to include 420 children treated for bone tumors in our tertiary center. The cohort consisted of 335 benign and 85 malignant lesions. The most common lesions were 137 osteochondromas; the malignant tumors consisted mainly of osteosarcomas (53) and Ewing’s sarcomas (28). The primary predilection sites were the metaphyses of long bones. Conclusions: We were able to confirm and supplement the fragmentary data of these rare diseases using our own cohort. Full article

Multiple osteochondromas (MO) is an autosomal dominant disorder and the most common genetic skeletal dysplasia, characterized by the growth of bone outgrowths capped by cartilage, called osteochondromas. Most MO cases are caused by mutations in the exostosin-1 (EXT1) and exostosin-2 (EXT2) genes. Only 5% of MO-causative variants are represented by single or multiple exon deletions; to date, no pathogenic large duplication has been described in the literature. In the present study, we describe the novel in-tandem intragenic duplication c.(1128_1202)_(1284+29_1344)dup involving exon 4 of EXT1 (NM_000127.2), detected in a three-generation family with MO. The variant has been detected by MLPA (multiplex ligation-dependent probe amplification) and then confirmed with qPCR (quantitative PCR). Our finding expands the spectrum of MO-causing variants describing a pathogenic large duplication, underlying the importance of quantitative analysis in patients with negative sequencing. Full article

Background: The diagnostic work-up of musculoskeletal tumors is a multifactorial process. During the early phase, differential diagnoses are made using basic radiological imaging. In this phase, part of the decision making is based on the patient’s age, as well as the incidence and predilection sites of different entities. Unfortunately, this information is based on older and fragmented data. In this study, we retrospectively evaluated all soft-tissue and bone tumors around the knee in children treated at our tertiary center in the last 20 years, with the aim of verifying the data used today. Methods: In this retrospective study, the databank of our tertiary center was used to give an overview of treated tumors around the knee in children. Results: We were able to include 224 children with bone and soft-tissue tumors around the knee. The cohort consisted of 184 bone tumors, of which 144 were benign and 40 malignant. The 40 soft-tissue tumors comprised 30 benign and 10 malignant masses. The most common lesions were osteochondromas (88) in the bone and tenosynovial giant-cell tumors (12) in the soft tissue. Conclusions: With this original work, we were able to verify and supplement earlier studies, as well as deepen our insight into these very rare diseases. Full article

Background: Heel pain in children is a common condition. The aetiology can be ascribed to fractures, osteochondrosis, tendinitis, calcaneal-navicular or talo-calcaneal coalition, osteomyelitis, rheumatic diseases, anatomic variants, malignant tumours (osteosarcoma, Ewing’s sarcoma), and benign lesions (bone cyst, aneurismal bone cyst, osteoid osteoma, or exostosis). In particular, this manuscript focuses on a case of calcaneal exostosis in the paediatric age, aiming to highlight its rarity. Osteochondromas are benign tumours of the surface of the bone and the overlying cartilage. They grow until skeletal maturity and can cause stiffness, pain, cosmetic alterations, tendinitis, and neuro-vascular compression. The calcaneus is an extremely rare site for these tumours. Only two case reports of paediatric exostosis of the calcaneus bone are available. Methods: We describe a case of a girl of 16 years of age, affected by multiple cartilaginous exostosis, who presented with a painful mass on the inferior margin of the foot in the calcaneal region, which was diagnosed as an exostosis. The neoformation was excised, and the girl underwent clinical follow-up. Results: The patient was promptly discharged in good condition, and on the 25th postoperative day, she was completely pain-free and allowed weight bearing. Conclusions: In the case of heel pain resistant to conservative treatment, the presence of an osteochondroma should be considered after excluding more common causes. If symptomatic, calcaneal osteochondromas could require surgical excision. Full article

Introduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood. Moreover, current studies show a small prevalence in the male population. The osteochondromas usually occur at sites with great bone activity and turnover, such as the diaphysis or metaphyseal plates (especially in children) of long bones. Their appearance in short bones (such as vertebrae) is very rare. Case presentation: We present a case of familial HME in a 53-year-old female patient with a very uncommon clinical description of the disease. The patient presented at our hospital with Frankel D-type paraparesis, with multiple osteochondromas (located at the right humerus, bilateral femurs, right tibia, and hip joints, besides the numerous ones over the spinal column) and urinary incontinence. She was suffering from bilateral coxarthrosis and gonarthrosis, which limited severely the range of her movements. An early menopause status was brought into consideration by the patient, being installed circa 15 years before, at 38 years old. She was currently in treatment with bisphosphonates for her concomitant osteoporosis. Conclusions: Despite the relatively rare nature of the disease, it may be an important concern for the patient’s quality of life. Intraspinal processes may trigger paraparesis or other neurological statuses, which may require a surgical treatment. The nature of the lesions is usually benign and do not require further radio- or chemotherapy. Full article

The actions of the retinoic acid nuclear receptor gamma (RARγ) agonist, palovarotene, on pre-existing osteochondromas were investigated using a mouse multiple osteochondroma model. This approach was based on the knowledge that patients often present to the clinic after realizing the existence of osteochondroma masses, and the findings from preclinical investigations are the effects of drugs on the initial formation of osteochondromas. Systemic administration of palovarotene, with increased doses (from 1.76 to 4.0 mg/kg) over time, fully inhibited tumor growth, keeping the tumor size (0.31 ± 0.049 mm³) similar to the initial size (0.27 ± 0.031 mm³, p = 0.66) while the control group tumor grew (1.03 ± 0.23 mm³, p = 0.023 to the drug-treated group). Nanoparticle (NP)-based local delivery of the RARγ agonist also inhibited the growth of osteochondromas at an early stage (Control: 0.52 ± 0.11 mm³; NP: 0.26 ± 0.10, p = 0.008). Transcriptome analysis revealed that the osteoarthritis pathway was activated in cultured chondrocytes treated with palovarotene (Z-score = 2.29), with the upregulation of matrix catabolic genes and the downregulation of matrix anabolic genes, consistent with the histology of palovarotene-treated osteochondromas. A reporter assay performed in cultured chondrocytes demonstrated that the Stat3 pathway, but not the Stat1/2 pathway, was stimulated by RARγ agonists. The activation of Stat3 by palovarotene was confirmed using immunoblotting and immunohistochemistry. These findings suggest that palovarotene treatment is effective against pre-existing osteochondromas and that the Stat3 pathway is involved in the antitumor actions of palovarotene. Full article

The rarity of foot and ankle tumours, together with the numerous histological entities, presents a challenge in accumulating sufficient patients to draw reliable conclusions. Therefore, we decided to present an update of a retrospective analysis of their distribution patterns, comprising 536 cases of foot and ankle tumours presented to our tumour board between June 1997 and June 2023. Our aim was to provide a comprehensive overview of the prevalence and distribution patterns of benign and malignant bone and soft tissue tumours of the foot and ankle. A total of 277 tumours involved bone (51.7%). Of these, 242 (87.4%) were benign and 35 (12.6%) were malignant. In addition, 259 soft tissue tumours (48.3%) were found, of which 191 (73.7%) were benign and 68 (26.3%) were malignant. The most common benign bone tumours were simple bone cysts, enchondromas, osteochondromas, aneurysmal bone cysts, and lipomas of bone. Common benign soft tissue tumours included a tenosynovial giant cell tumour, haemangioma, plantar fibromatosis, schwannoma, and lipoma. The most common malignant soft tissue tumours were synovial sarcoma, malignant melanoma, and myxofibrosarcoma. In terms of anatomical location, the hindfoot was the most common site (28.7%), followed by the midfoot (25.9%), ankle (25.4%), and forefoot (20.0%). The distribution of benign entities often follows typical patterns, which may facilitate an early diagnosis even without biopsy (e.g., simple bone cyst, plantar fibromatosis). On the other hand, the distribution patterns of many rare or malignant entities are inconsistent. Individual soft tissue malignancies occur very sporadically, even over long periods of time and in specialized tumour centres. It is therefore important to recognise that any suspicious mass in the foot and ankle must be considered a possible malignancy until proven otherwise. Full article

Background: Subungual exostosis (SE) and subungual osteochondroma (SO) are benign solitary lesions that grow from the distal phalanx. The mass itself is typically painless, but pressure on the nail plate can result in pain and deformity of the involved digit. Tumors can be correctly diagnosed based on clinical, histological and radiographic appearance alone. Surgical resection of SE/SO is typically curative, with a small risk of recurrence. Methods: The study was retrospective and observational, involving 74 patients with subungual SE/SO. The surgical procedure consisted of the removal of the tumor from the dorsal approach under digital anesthesia. The procedure was assessed using a questionnaire and photo documentation after a minimum of 6 months after surgery. Results: A total of 85% of respondents were satisfied with the procedure. Nearly 80% of patients rated the cosmetic effect as good or very good. Young age and pain intensity after surgery showed statistically significant associations with worse satisfaction. Age < 18 was associated with recurrence. Conclusions: Worse satisfaction is strongly associated with recurrence. Gender, duration of symptoms, pain before surgery and tumor size and destruction of the nail plate had no significant effect on recurrence. The technique using burr appeared to be a more effective treatment. Full article

(1) Background: Osteochondromas are the most common benign bone tumors, primarily found in long bones, while scapular osteochondromas are rare and account for less than 1% of all osteochondromas. (2) Methods: We present a case of a young female patient with a unique presentation of scapular osteochondroma. The patient exhibited superomedial scapula angle osteochondroma with winging, a rare manifestation of scapular osteochondroma. The patient had a slow-growing mass on the left scapula for several years. Physical examination revealed a visible deformity with significant winging of the scapula. Imaging studies demonstrated a large osteochondroma arising from the superomedial angle of the left scapula, with a bony stalk. (3) Results: Surgical excision was performed, and histopathological analysis confirmed the diagnosis of osteochondroma. Following the surgery, the patient experienced a significant improvement in scapular winging. A comprehensive literature review revealed only a limited number of reported cases of scapular osteochondroma with winging, underscoring the significance of this case report as a valuable addition to the existing literature. The diagnosis of scapular osteochondroma should be considered in the differential diagnosis of patients presenting with a scapular mass, particularly when associated with winging. Surgical excision is the recommended treatment, and complete excision is crucial to prevent recurrence. (4) Conclusions: This case report highlights a rare presentation of scapular osteochondroma with winging and emphasizes the importance of considering this diagnosis in patients with scapular masses accompanied by winging. The successful surgical intervention in our case resulted in significant improvement. Clinicians should be aware of this entity and consider prompt surgical intervention for complete excision, ensuring optimal patient outcomes and preventing recurrence. Further research and additional case reports are necessary to enhance our understanding of scapular osteochondroma and its varied clinical presentations. Furthermore, comprehensive studies involving larger patient cohorts are necessary to explore the full spectrum of clinical presentations of scapular osteochondromas. By documenting and analyzing a wider range of cases, including variations in tumor location, size, and associated symptoms, researchers can identify patterns and establish more accurate diagnostic criteria. This will facilitate early detection and appropriate management of scapular osteochondromas, ultimately improving patient outcomes. Full article

Prevention of rotatory impairment and radial head dislocation in the forearm is an important aspect when treating children with osteochondromas. Various studies tried to determine the best treatment, describing different surgical techniques. No consensus has been reached yet. This retrospective study compares the treatment outcome of patients with osteochondroma of the radius and ulna after surgical or conservative treatment. Seventeen forearms treated over a period of 20 years were analysed. Outcome parameters were the prospectively collected clinical data and the radiological findings: “relative shortening” of ulna/radius, the “radial articular angle” (RAA) and the “carpal slip” (CS). Our study shows an improvement of the range of motion and cosmetic appearance of the forearm after an operative procedure, with or without bone lengthening. We observed an increase in wrist and elbow mobility with a decrease in pain scores and a confirmed high cosmetic satisfaction in almost 70% of the patients after bone lengthening and up to 85% after simple excision. For patients suffering from functional impairment or pain, an operative approach is beneficial. Multiple and repetitive osteochondroma excisions are recommended during growth to prevent deformity and rotatory motion restriction. Lengthening procedures require a careful indication. Full article