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OBJECTIVE: Torus Palatinus (TP) is a common trait with an unclear aetiology. Although prior studies suggest a hereditary component, the genetic factors that influence TP risk remain unknown. The purpose of this study is to identify genetic variants associated with TP. MATERIALS AND METHODS: We assessed the TP status of 829 individuals from various ancestral backgrounds using 3D palate scans. We then carried out a genome-wide association study (GWAS) to identify common variants associated with TP. We also performed gene-based tests across the exome to investigate the role of low-frequency coding variants. RESULTS: Our GWAS did not identify any genome-wide significant signals but identified suggestive associations including hits on chromosomes 2, 5 and 17 with p-values less than 5 × 10-6. Candidate genes at these suggestive loci have been implicated in normal-range craniofacial features, syndromes with facial and oral malformations, and bone density. We did not find evidence that low-frequency coding variants influence TP risk. In addition, we failed to replicate associations identified in prior genetic studies of TP. CONCLUSION: These findings suggest that multiple genes likely influence the development of TP. Independent replication will be required to confirm our suggestive associations.

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BACKGROUND: Patients with hereditary multiple exostosis (HME) usually present with forearm deformity with or without radial head dislocation. Ulna lengthening has been proposed to address this condition. Exostosis resection plus ulna lengthening has been adopted in our hospital since 2008, and patients with this condition were retrospectively reviewed. Herein, we aimed to investigate the optimal timing and clinical outcomes of this surgical approach. METHODS: In all, thirty-five patients (40 forearms), including 22 boys and 13 girls, were enrolled in our study from July 2014 to September 2020. We divided the patients into 4 groups based on the age when they received surgery and the status of the radial head. Pronation and supination of the forearm, flexion and extension of the elbow, wrist ulnar deviation and wrist radial deviation, and radiological parameters including ulnar length (UL), ulnar variance (UV), the percentage of radial bowing (RB/RL), radio articular angle (RAA) and carpal slip (CS), were assessed and recorded. RESULTS: The mean UL was significantly improved after surgery in four Groups (P<0.05). In patients with radial head dislocation, we found significant improvement in forearm, wrist function and elbow flexion (p < 0.05). For the patients with radial head dislocation, the juniors demonstrated better improvement in % RB and RAA (p<0.05, p = 0.003 and 0.031). CONCLUSION: Exostosis resection and ulna lengthening with unilateral external fixation can effectively improve the function and radiological parameters of forearm deformity in HME children. For patients with radial head dislocation, early surgery can achieve better results. For patients not associated with radial head dislocation, we recommend regular follow-up and surgical treatment after 10 years of age.

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Tori are reactive or developmental localized overgrowths of alveolar bone that are not cancerous. A thin, weakly vascularized mucosa surrounds a densely cortical, low-density mass of bone marrow known as tori or exostosis. Tori are more frequently observed in middle age. Both the maxilla (torus palatinus) and the mandible (torus mandibularis) exhibit tori. Difficulty in speaking and other issues are common obstacles associated with tori. Tori range in diameter from a few millimeters to several centimeters. Surgical excision of tori is the mainstay of treatment for large tori obstructing speech, mastication, or tongue position. The following case study includes a 36-year-old male patient with an association of mandibular canine and premolar regions with bony outgrowth.

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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.

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OBJECTIVES: California has the most surfers in the United States and a high prevalence of external auditory canal exostoses (EACEs) among them. We aimed to characterize their EACE knowledge, use of earplugs, and barriers toward earplug use. METHODS: A RedCap survey was distributed to online surfing forums and surfers at California beaches. Descriptive statistics and regression analyses were used to characterize responses. RESULTS: Our cohort included 334 primarily male (n = 269, 81.52%), college-educated (n = 237, 71.17%) surfers who were on average 30.79 years old (SD = 11.07). Two hundred and ninety-seven (90.00%) heard of EACE and 317 (96.06%) believed earplugs prevent EACE. However, 214 (64.85%) had never used earplugs. Multivariable logistic regression found increased age (OR = 1.04, 95% CI = [1.00-1.08], p = 0.03), higher EACE knowledge quiz scores (OR = 1.47, 95% CI = [1.19-1.80], p < 0.001), and primarily surfing in Southern California (OR = 2.19, 95% CI = [1.15-4.16], p = 0.02) increased the likelihood of earplug use. Common reasons against earplug use included reduced hearing, discomfort, and social hindrance. Two hundred and eighty-seven (86.45%) would wear earplugs following more EACE knowledge. They preferred learning from surf community members, doctors, and surf events. CONCLUSION: Low earplug use despite awareness of EACE preventability suggests a need for EACE education among California surfers and more accessible, user-friendly earplugs. Younger, less-skilled surfers who were more commonly unaware of EACE may represent a key intervention group. Education could be promoted through partnerships between health professionals and renowned surf organizations, as most participants indicated a willingness to use earplugs post-education. LEVEL OF EVIDENCE: N/A Laryngoscope, 2024.

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Background: Subungual exostosis is a type of heterotopic ossification, which often has unclear margins. Therefore, marginal resection may cause recurrence and wide resection is sometimes required to achieve a complete cure. However, wide resection may cause postoperative nail deformity and revision of this deformity is generally difficult. The primary treatment of subungual exostosis is surgical treatment, and there have been no comprehensive reports on the efficacy of adjunctive treatments. Although postoperative electron beam irradiation has been successfully used after heterotopic ossification excision to prevent recurrence, there are no reports on the use of this procedure following subungual exostosis resection. Case Description: Herein, we report a case of refractory subungual exostosis that developed as a result of chronic irritation and inflammation caused by an ingrown nail and recurred after initial resection. We performed marginal resection of the lesion to preserve the nail matrix and nail bed as possible, a two-stage skin grafting procedure, and electron-beam irradiation to prevent recurrence. Conclusions: Excellent results were achieved both in terms of complete cure and cosmetic appearance, suggesting that electron-beam irradiation following refractory subungual exostosis excision may help prevent its recurrence. We expect a further study including many cases of subungual exostosis treated with postoperative electron-beam irradiation to be conducted.

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BACKGROUND: During the last decade, arthroscopic procedures have been replacing open techniques in Haglund disease treatment because of their considerable advantages. Endoscopic calcaneoplasty is a technique that allows resection of posterosuperior calcaneal exostosis and retrocalcaneal bursitis. The objective of this article was to describe this technique and report its clinical and subjective outcome. METHODS: A retrospective study was performed of consecutive patients undergoing endoscopic Haglund resection surgery between July 2014 and March 2020 at a single academic institution. All patients were surveyed in person about the level of pain (visual analog scale), its location (central, lateral, medial or diffuse), its relation with rest, or physical activity. Clinical evaluation was assessed using the hindfoot scale designed by the American Orthopedics Foot & Ankle Society AOFAS. RESULTS: In this study, 14 endoscopic calcaneoplasties were performed in 14 patients, with an average follow-up of 40 months. The visual analog scale score improved from a preoperative average value of 9.07 to 1.8 after surgery (P > .0001). The AOFAS scale rose from 38.7 before surgery to 94.6 postoperative (P > .0001). Good subjective results were observed in 12 patients (85.7%), and all of them would have surgery again. There were no wound complications or infections. No patient required reoperation. CONCLUSION: In this relatively small cohort, we found that endoscopic calcaneoplasty was associated with good clinical and subjective results with few complications.

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Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes, facilitating relatively precise clinical diagnosis through established diagnostic criteria. Despite this, a notable percentage of MO cases (10%-20%) remains unresolved after sequencing coding regions and copy number analysis of both genes. In our study, we identified mosaic structural variants in two patients who initially yielded negative results on standard genetic analysis for MO. Specifically, mosaic deletions affecting exons 8-11 and exons 2-11 in the EXT1 gene were detected. RNA analysis was performed in one case, while both cases underwent genome sequencing. To date, only six mosaic copy number variations have been reported in association with MO, representing a minority among known variants in both genes. Our report provides a detailed analysis of these findings, highlighting the significance of advanced genetic testing techniques in detecting mosaic variants in the EXT1/2 genes.

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Introduction: Osteochondromas are a unique group of benign bone tumors that are characterized by bony outgrowth covered by Cartilage. It has a peculiar micro-architecture as its cortices are extensions of those of parent bone and there is a continuity of medullary cavity; this is akin to branching in plants, rightly earning the name "Exostosis." Case Report: We report a case of a 21-year-old male who presented with complaints of swelling on the upper back associated with mild discomfort. Examination confirmed a bony mass on the dorsal aspect of the scapula without any restricted range of motion of the shoulder joint. On the confirmation of diagnosis, en bloc excision was performed. Conclusion: In conclusion, dorsal scapular osteochondromas are a rarity, and excision of the lesion is an effective management for symptomatic lesions.

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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.

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Exostosis, or osteochondroma, represents the most prevalent primary benign bone tumor, often viewed as a developmental anomaly rather than a true neoplasm. This article presents 2 cases illustrating complications associated with tibial osteochondroma. The first case involves a 25-year-old patient with recurrent medial knee pain attributed to pes anserine bursitis secondary to tibial osteochondroma, managed successfully with surgical excision. The second case features a 15-year-old with similar symptoms and unsuccessful conservative management, highlighting the diagnostic challenges and therapeutic options for this condition. Discussion encompasses the clinical presentation, diagnostic modalities including MRI and ultrasound, and management strategies such as conservative measures, corticosteroid injections, and surgical excision. Recognizing and promptly managing complications like pes anserine bursitis in tibial osteochondroma is crucial to prevent chronic pain and functional impairment, emphasizing the importance of a multidisciplinary approach involving orthopedic surgeons, radiologists, and physical therapists.

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INTRODUCTION AND IMPORTANCE: Tibial exostosis (osteochondroma) represents a prevalent benign bone tumor typically identified in young adults. Uncommonly, vascular complications can emerge, encompassing vessel perforation, thrombosis and arterial thromboembolic events. Rare instances of popliteal vein thrombosis resulting from tibial osteochondroma have been documented. CASE PRESENTATION: We report a rare case of a 25-year-old patient who presented with a red and swollen leg, and the diagnosis of deep venous thrombosis (DVT) of the left popliteal vein was established. The patient also exhibited a painless, hard swelling in the popliteal fossa. Radiography revealed an exostosis on the posterior aspect of the proximal tibia. An angioscan demonstrated close relations with the popliteal vessels, leading to venous compression. The patient underwent resection through a posterior knee approach. Histopathological analysis of the exostosis ruled out malignant transformation. CLINICAL DISCUSSION: The discussion emphasizes the need for prompt diagnostic measures when signs indicate a vascular concern in a young patient, initiating with a radiograph followed by Doppler ultrasound and/or angiography to diagnose complications and precisely delineate their relationships with the tumor. Surgical intervention is underscored as urgent, particularly in cases involving arterial thrombosis, where immediate measures such as thrombectomy or bypass with a venous graft may be necessary. CONCLUSION: Vascular complications associated with bone exostoses are rare but require prompt surgical treatment. However, it should prompt the performance of an angioscan in the presence of any abnormalities during clinical examination or an appearance raising concerns about potential vascular conflict.

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Introduction: Osteochondromas are the most common benign tumors of the bone and can be sessile or pedunculated. Although osteochondromas are typically seen in the long bones, they are rarely seen in the small bones of the hand or foot. Verruca vulgaris, also known as the common wart, is one of the most common skin conditions presenting to physicians and must be distinguished either clinically or histologically from other hyperkeratotic conditions, including bone conditions such as bone tumors that can place pressure on the skin and cause callus formation that can mimic a wart or create skin deformity. A high index of suspicion for underlying bone mass or tumor should be entertained when evaluating patients for skin conditions, particularly of the hand or foot, with failure to improve with treatment. Case Report: This case report presents a 20-year-old male with a pedunculated osteochondroma of the left fourth distal phalanx with hyperkeratotic skin overlying the mass at the end of the toe. He was initially treated by a family doctor and podiatrist for verruca vulgaris for over 5 years with two treatments of liquid nitrogen cryotherapy and surgical excision of the mass when the treating podiatrist encountered bone and recommended radiographs. The family requested follow-up with our practice several days later after they were told the patient had a bone tumor. The patient requested surgical excision of the osteochondroma secondary to pain with activities and difficulties with his vocation as a pilot. Conclusion: All physicians must be mindful of an underlying bone tumor or mass in patients presenting with skin changes, particularly about the foot or hand. Knowledge that an underlying bone tumor can present as a verruca vulgaris may prevent a delay in diagnosis or unnecessary treatment when evaluating and treating a patient with a skin lesion. Fortunately, our case was a benign osteochondroma; a malignant tumor with a delay in diagnosis could lead to loss of limb or life.

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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.

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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.

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Tibial exostosis, also known as osteochondroma, is a common benign bone tumor found predominantly in adolescents and young adults. Vascular complications associated with this tumor, such as arterial occlusion and pseudoaneurysm formation, are rare but can lead to significant morbidity if not promptly diagnosed and managed. We present a case of a 25-year-old patient who presented with thrombosis of the left popliteal vein and a painless swelling in the popliteal fossa. Radiographic and CT angiography revealed an exostosis on the proximal tibia causing arterial occlusion and venous compression. Surgical resection of the exostosis via a posterior knee approach resulted in successful resolution of symptoms and a favorable outcome at a 12-month follow-up. Histopathological examination confirmed the benign nature of the tumor with no evidence of malignant transformation. This case highlights the importance of prompt recognition and surgical intervention in managing vascular complications associated with tibial exostosis. A multidisciplinary approach involving orthopedic and vascular specialists is crucial for achieving optimal outcomes in such cases.

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The diagnosis of an osteochondroma in the short bones of the extremities is atypical and the presentation in infancy is unusual. A 3-month-old female presented for evaluation of radial deviation of the right index finger present since birth. Radiographs showed a broad-based osseous outgrowth with the usual features of an osteochondroma arising from the base of middle phalanx. Initial corrective surgery at 22 months was followed by recurrence of the lesion. Another resection at 4 years confirmed a final diagnosis of BPOP (bizarre parosteal osteochondromatous proliferation). The subsequent pathologic diagnosis of BPOP appears to support the hypotheses concerning the etiology of BPOP as possibly arising from repeated trauma to the metaphysis.

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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.

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Introduction: Alveolar oral exostosis is a common, benign condition routinely found in dentistry. Clinical problems associated with exostoses are the maintenance of oral hygiene as well as the fabrication of prosthodontic appliances. Over time, exostoses may contribute to irritation and periodontal disease. Case description: The patient in this case study had a recurrence of exostoses and was bothered by consistent and prominent pain. She reported being a bruxer; her bruxism was exacerbated due to attention-deficit hyperactivity disorder and antidepressant medications. Discussion: The etiology behind the recurrence of exostosis is discussed. The most evident etiology seems to be persistence of medication-induced bruxism, specifically awake bruxism. Conclusion: It is necessary to take a proper history to identify the cause of the recurrence of exostosis. Dental hygienists can contribute to a better understanding of and provide better treatment options for patients who have medication-induced bruxism.

Introduction: L'exostose buccale alvéolaire est une affection bénigne courante couramment observée en dentisterie. Les problèmes cliniques associés aux exostoses sont le maintien de l'hygiène buccale ainsi que la fabrication d'appareils prosthodontiques. Avec le temps, les exostoses peuvent causer de l'irritation et des maladies parodontales. Description de cas: Dans cette étude de cas, la patiente présente des exostoses récurrentes et est dérangée par une douleur constante et proéminente. Elle a déclaré souffrir de bruxisme exacerbé par la prise de médicaments antidépresseurs et contre le trouble déficitaire de l'attention avec hyperactivité. Discussion: L'étiologie derrière la récurrence de l'exostose est abordée. L'étiologie la plus évidente semble être la persistance du bruxisme induit par les médicaments, en particulier le bruxisme diurne. Conclusion: Il est nécessaire d'obtenir les antécédents médicaux appropriés pour identifier la cause de la récurrence de l'exostose. Les hygiénistes dentaires peuvent contribuer à une meilleure compréhension et offrir de meilleures options de traitement aux patients atteints de bruxisme induit par les médicaments.

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A 30-yr-old man developed right lower leg pain and a palpable solid mass. Radiographic imaging revealed a periosteal reaction with an exostotic mass arising from the right distal fibula. Generalized skeletal osteosclerosis with periosteal reaction was discovered on a radiographic skeletal survey. A biopsy of the right fibular mass revealed reactive woven bone. The patient was referred to a metabolic bone disease clinic, where laboratory values were consistent with secondary hyperparathyroidism and increased bone turnover. A DXA bone density scan revealed high bone density, with an L1-4 spine Z-score of +9.3, a left femoral neck Z-score of +8.5, and a total hip Z-score of +6.5. A dental exam revealed generalized gingival inflammation, teeth mobility, generalized horizontal alveolar bone loss and widening of the periodontal ligament space, increased bone density around the teeth, and thickening of the radicular lamina dura. An extensive evaluation was performed, with the result of a single test revealing the diagnosis. The differential diagnoses of osteosclerosis affecting the skeleton, teeth, and oral cavity are discussed.

A 30-yr-old man developed, over a short period, pain in his lower right leg accompanied by a hard mass. He also reported weight loss and night sweats for the past 6 months. After evaluation by his primary physician, an X-ray was ordered that reported a bony mass arising from the right fibula bone. A biopsy was performed of the mass, but no evidence of cancer or any other specific abnormality was found. The patient was then referred to a bone disease specialty clinic. Laboratory tests revealed a large increase in how quickly the patient's skeleton was remodeling, affecting the balance of bone formation and removal involved in maintaining a healthy skeleton. A bone density scan reported that the patient had very dense bones. Other unusual changes were also discovered in a dental exam, suggesting bone thickening. After an extensive evaluation, a single blood test revealed the cause of the fibular bone mass and dense bones.

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