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Pathology Oncology Research : POR 2024Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors. Dental...
Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors. Dental anomalies are present in approximately 30%-70% of patients with Gardner syndrome and can be discovered during routine dental examinations. However, sometimes the diagnosis is challenging due to the high clinical variability and incomplete clinical picture. Herein, we report a family with various dental and bone anomalies, in which the definitive diagnosis was established with the help of a comprehensive genetic analysis based on state-of-the-art next-generation sequencing technology. A 17-year-old female index patient presented with dental (caries, impacted, retained and anteriorly located teeth) and atypical bone anomalies not resembling Gardner syndrome. She was first referred to our Genetic Counselling Unit at the age of 11 due to an atypical bone abnormality identified by a panoramic X-ray. Tooth 3.6 was surgically removed and the histopathology report revealed a Paget's disease-like bone metabolic disorder with mixed osteoblastic and osteoclastic activity of the mandible. A small lumbar subcutaneous tumor was discovered by physical examination. Ultrasound examination of the tumor raised the possibility of a soft tissue propagation of chondromatosis. Her sister, 2 years younger at the age of 14, had some benign tumors (multiple exostoses, odontomas, epidermoid cysts) and impacted teeth. Their mother had also skeletal symptoms. Her lower teeth did not develop, the 9th-10th ribs were fused, and she complained of intermittent jaw pain. A cranial CT scan showed fibrous dysplasia on the cranial bones. Whole exome sequencing identified a heterozygous pathogenic nonsense mutation (c.4700C>G; p.Ser1567*) in the gene in the index patient's DNA. Targeted sequencing revealed the same variant in the DNA of the other affected family members (the sister and the mother). Early diagnosis of this rare, genetically determined syndrome is very important, because of the potentially high malignant transformation of intestinal polyps. Dentists should be familiar with the typical maxillofacial features of this disorder, to be able to refer patients to genetic counseling. Dental anomalies often precede the intestinal polyposis and facilitate the early diagnosis, thereby increasing the patients' chances of survival. Genetic analysis may be necessary in patients with atypical phenotypic signs.
Topics: Humans; Gardner Syndrome; Female; Adolescent; Genetic Testing; Tooth Abnormalities; Early Diagnosis; Pedigree
PubMed: 38807857
DOI: 10.3389/pore.2024.1611768 -
International Journal of Surgery Case... May 2024Osteoid osteoma is a benign primary bone tumor with a predilection for the long bones and vertebrae, presenting a unique challenge when occurring in rare locations such...
INTRODUCTION AND IMPORTANCE
Osteoid osteoma is a benign primary bone tumor with a predilection for the long bones and vertebrae, presenting a unique challenge when occurring in rare locations such as the talus, accounting for 5 to 8 % of cases. Early imaging struggles to detect its nidus, leading to diagnostic delays, especially when atypical symptoms and previous trauma complicate clinical presentations. This case report illustrates the diagnostic challenges and emphasizes the importance of targeted computed tomography (CT) guided by scintigraphy in diagnosing osteoid osteoma of the talus.
CASE PRESENTATION
A 23-year-old male presented with chronic left ankle pain spanning three years, with a history of previous trauma. Initial evaluations including standard radiology and magnetic resonance imaging (MRI) suggested algodystrophy of the talus and tenosynovitis, but failed to identify the osteoma. Persistent pain led to further investigation with bone scintigraphy, revealing hyperfixation indicative of partial algodystrophy. Targeted CT scans focused on the scintigraphy-identified area ultimately revealed an osteoid osteoma's nidus, enabling successful surgical intervention and symptomatic relief.
DISCUSSION
The diagnosis of osteoid osteoma in the talus is frequently delayed due to its atypical presentation and rare occurrence. Traditional imaging techniques may overlook the tumor's nidus, underscoring the necessity for targeted diagnostic approaches. This case demonstrates the value of integrating scintigraphy with targeted CT to enhance early diagnosis and treatment planning, contrasting with the limited diagnostic yield of MRI and underscoring CT's superiority for nidus detection.
CONCLUSION
Osteoid osteoma of the talus poses significant diagnostic challenges. This case report highlights the utility of scintigraphy-guided targeted CT in identifying the nidus and facilitating prompt surgical management, advocating for a multidisciplinary approach to atypical ankle pain, especially in patients with a history of trauma.
PubMed: 38735215
DOI: 10.1016/j.ijscr.2024.109745 -
Medicina (Kaunas, Lithuania) Apr 2024Soft tissue calcifications frequently appear on imaging studies, representing a prevalent but non-specific discovery, varying from a local reaction without clear cause...
Soft tissue calcifications frequently appear on imaging studies, representing a prevalent but non-specific discovery, varying from a local reaction without clear cause to suggesting an underlying systemic condition. Because calcifications like these can arise from various causes, an accurate differential diagnosis is crucial. Differential diagnosis entails a methodical assessment of the patient, encompassing clinical presentation, medical history, radiological and pathological findings, and other pertinent factors. Through scrutiny of the patient's medical and trauma history, we can refine potential causes of calcification to vascular, metabolic, autoimmune, neoplastic, or traumatic origins. Furthermore, routine laboratory assessments, including serum levels of calcium, phosphorus, ionized calcium, vitamin D metabolites, and parathyroid hormone (PTH), aid in identifying metabolic etiologies. We describe a rare occurrence of osteoma cutis in a 15-year-old female patient with a history of pseudohypoparathyroidism (PHP) and Albright's hereditary osteodystrophy (AHO). The patient presented with a painful mass on the lateral side of her left foot. The diagnosis was based on medical history, laboratory tests, and imaging, leading to an excisional biopsy and complete pain relief post-surgery. Understanding such rare occurrences and related conditions is crucial for accurate diagnosis and management.
Topics: Humans; Female; Calcinosis; Pseudohypoparathyroidism; Adolescent; Diagnosis, Differential; Foot; Bone Diseases, Metabolic
PubMed: 38674241
DOI: 10.3390/medicina60040595 -
Journal of Personalized Medicine Apr 2024The aim of this study was to evaluate treatment of osteoid osteomas using bipolar radiofrequency ablation (RFA) and patients' quality of life before and after therapy....
The aim of this study was to evaluate treatment of osteoid osteomas using bipolar radiofrequency ablation (RFA) and patients' quality of life before and after therapy. We retrospectively evaluated patients who underwent bipolar RFA of osteoid osteomas between 2001 and 2016. We assessed patients' symptoms before and after treatment (four weeks after treatment and long-term) using a questionnaire including severity and quality of pain on a 10-point scale (1 = no pain, 10 = severe pain), motion restrictions, pain-related sleep disorders, and necessary pain medication. In addition, we evaluated technical success, complications, hospitalization length, and patients' satisfaction with treatment. This study included 62 patients (43 [69.4%] males, 26.2 ± 13.2 years). Average nidus size was 5.7 ± 2.6 mm. The rate of technical success was 100%. All RFAs were performed without any complications. One patient showed a recurrence, resulting in a recurrence rate of 1.6%, which was successfully treated by another session of RFA. Average hospitalization length was 1.5 ± 0.5 days. A total of 36 patients (58.1%) participated in the questionnaire, reporting an average pain severity of 8.2 ± 1.6 before RFA compared to 3.4 ± 3.0 four weeks after and an average of 2.1 ± 2.3, 6.6 years after therapy, (both < 0.001). After therapy, 31 (86.1%) patients had no pain. The majority of patients ( = 34, 94.4%) had reduced or absent motion restriction after therapy ( < 0.001). Patient satisfaction rate was 91.7%. In conclusion, bipolar RFA is a safe and effective treatment modality for osteoid osteomas and improves quality of life by reducing pain severity and motion restrictions.
PubMed: 38673028
DOI: 10.3390/jpm14040401 -
Journal of Personalized Medicine Apr 2024The frontal sinus medial drainage -Draf Type III (modified endoscopic Lothrop) procedure, has become a cornerstone in frontal sinus surgery over the last three decades....
The frontal sinus medial drainage -Draf Type III (modified endoscopic Lothrop) procedure, has become a cornerstone in frontal sinus surgery over the last three decades. Despite its widespread acceptance, challenges such as restenosis and neo-ostium closure persist, prompting the exploration of various preventive techniques. In this retrospective study, we analyzed data from 111 patients who underwent the Draf III procedure between November 2015 and November 2023, with a mean follow-up period of 3 years and 11 months. Approximately two-thirds of patients (64%) had undergone previous sinus surgery and 16% a previous Draf III. Over half of the patients had inflammatory conditions, with the majority being chronic rhinosinusitis with nasal polyps (CRSwNP) (46%), while 15% were diagnosed with malignant sinonasal tumors, and 23% with benign sinonasal tumors, of which the commonest was osteoma, accounting for 14 cases. The mean follow-up period was 3 years and 11 months. We focused on evaluating the efficacy of mucosal flaps and free grafts in preventing neo-ostium closure. Although it appears that there is no statistically significant correlation between flap usage and the need for revision surgery or ostium patency maintenance overall, subgroup analysis highlighted the benefits of flap reconstruction in patients with chronic rhinosinusitis with nasal polyps. In this subgroup, the use of flaps or grafts reduced the rate of neo-ostium stenosis from 20% to 0% ( < 0.05). Overall revision rate was 11.7%-however this was 8% in patients without acute inflammation at the time of surgery and went up to 31% in the presence of pus in the frontal recess ( = 0.02). This study contributes to the existing literature by providing insights into long-term outcomes, the enduring effectiveness of interventions in frontal sinus surgery, and especially the importance of taking into account the underlying pathology when assessing long-term outcomes.
PubMed: 38673023
DOI: 10.3390/jpm14040396 -
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 -
Clinical Case Reports Apr 2024Gardner's syndrome with the complete manifestation of colonic and extracolonic features is uncommon. Therefore, every clinician should view extracolonic features with a...
Gardner's syndrome with the complete manifestation of colonic and extracolonic features is uncommon. Therefore, every clinician should view extracolonic features with a high index of suspicion. This may be key to early diagnosis, definitive management in these patients and importantly, helps prevent malignant transformation of existing colonic polyps.
PubMed: 38576527
DOI: 10.1002/ccr3.8735 -
Imaging Science in Dentistry Mar 2024A 54-year-old male patient presented for a periodic check-up at the dental clinic. A panoramic radiograph showed bilateral ossification of the stylohyoid ligament with...
A 54-year-old male patient presented for a periodic check-up at the dental clinic. A panoramic radiograph showed bilateral ossification of the stylohyoid ligament with an oval radiopacity on the right side. Cone-beam computed tomography revealed a well-defined, homogenous hyperdense entity from the lower third of the ossified stylohyoid ligament on the right side. The differential diagnosis of osteoma on the stylohyoid chain includes Eagle syndrome and benign tumors of the stylohyoid chain and adjacent structures. Osteoma rarely manifests in the neck. Even more infrequent are tumors originating from the stylohyoid chain, with only a single documented case of osteoma reported in the literature in 1993. Due to the asymptomatic status, no surgical intervention was advised, and the case would be monitored periodically. This case report describes the details of an osteoma that emerged from the stylohyoid chain, marking it as the second recorded occurrence of this highly rare condition.
PubMed: 38571770
DOI: 10.5624/isd.20230222 -
Orthopaedic Surgery May 2024Percutaneous CT-guided radiofrequency ablation (CT-RFA) is a widely accepted procedure for treatment of osteoid osteomas. However, the application of CT-RFA was...
OBJECTIVE
Percutaneous CT-guided radiofrequency ablation (CT-RFA) is a widely accepted procedure for treatment of osteoid osteomas. However, the application of CT-RFA was restricted as a result of some drawbacks, such as radiation exposure, and inconvenience in general anesthesia. The primary aim of this study is to evaluate the safety and efficacy of intra-operative TiRobot-assisted percutaneous RFA of osteoid osteomas.
METHODS
We retrospectively reviewed 21 medical files of patients who were treated with percutaneous RFA of osteoid osteomas guided by the TiRobot system in our institution between March 2021 and April 2022. The three-dimensional images obtained by a 3D C-arm intra-operatively were sent to the TiRobot system. The puncture point and trajectory were designed. Then the guide pin was positioned to the lesion with the assistance of TiRobot and the biopsy sheath was inserted into the lesion through the guide pin. The tumor was biopsied for pathological examination. Then the RFA needle was inserted into the nidus through the biopsy sheath for thermal ablation. Data were extracted on the associated complications, the reduction in pain at 1 month and 1 year postoperatively assessed by the visual analogue scale (VAS). A paired t-test was used to compare the pre-operative and post-operative VAS scores.
RESULTS
The patients included 17 males and four females with a mean age of 19.5 ± 10.4 years (range 3-45 years). Lesions were located on the femur in nine cases, on the tibia in nine cases, on the humerus in one case, on the calcaneus in one case, and on the acetabulum in one case. TiRobot-assisted percutaneous RFA was successfully performed on all 21 patients. There was no intra-operative or post-operative complications observed. Pathological diagnosis of osteoid osteoma was obtained in 11 patients, but the other 10 cases were not pathologically diagnosed. The mean follow-up time was 18.8 months (range: 12-26 months).Post-operative VAS scores were reduced significantly in all cases. The mean VAS score decreased from 6.5 pre-operatively to 0.5 at 1 month post-operatively and to 0.1 at 1 year post-operatively.
CONCLUSION
As a reliable technique for localizing and resection of nidus, TiRobot-assisted percutaneous RFA is a safe and effective option for the treatment of osteoid osteomas.
Topics: Humans; Osteoma, Osteoid; Male; Retrospective Studies; Radiofrequency Ablation; Female; Adolescent; Bone Neoplasms; Robotic Surgical Procedures; Child; Young Adult; Adult; Tomography, X-Ray Computed; Pain Measurement; Middle Aged; Surgery, Computer-Assisted
PubMed: 38556479
DOI: 10.1111/os.14043 -
BMC Ophthalmology Mar 2024An ocular osseous choristoma is a growth of mature, compact bone in the ocular or periocular soft tissue, and it is the rarest form of ocular choristoma, accounting for...
BACKGROUND
An ocular osseous choristoma is a growth of mature, compact bone in the ocular or periocular soft tissue, and it is the rarest form of ocular choristoma, accounting for only 1.7% of all epibulbar choristomas.
CASE PRESENTATION
Herein we present the case of a 20-month-old girl who was referred to the oculoplasty clinic with a progressively growing mass in the left lateral canthus. It had been present since birth without ocular involvement. Upon examination the mass was firm with a smooth surface, measured 9 × 6 × 3 mm, and exhibited no episcleral attachment or ocular involvement. An excisional biopsy was performed, and the histopathological findings were consistent with osseous choristoma of the left lateral canthus.
CONCLUSIONS
This report highlights the importance of considering osseous choristoma in the differential diagnosis of eyelid lesions, particularly those that have been present since birth. It also emphasizes the need for further studies investigating associations between osseous choristomas and ocular canthi.
Topics: Female; Humans; Infant; Choristoma; Lacrimal Apparatus; Eye Diseases; Eyelids; Bone and Bones
PubMed: 38549111
DOI: 10.1186/s12886-024-03403-y