Bilateral choroidal osteoma: long-term follow-up of secondary choroidal neovascularization in a child using antiangiogenic therapy.

Choroidal osteoma is a rare condition, and its treatment is not well established, especially in the pediatric population, where use of antiangiogenics for choroidal neovascularization is poorly studied. Few studies have reported the long-term follow-up of pediatric patients with bilateral choroidal osteomas. We report the case of a girl who was diagnosed at the age of 3, with the appearance of bilateral secondary choroidal neovascularization, and has been under strict observation for 12 years. The effectiveness of antiangiogenic agents as a long-term therapeutic option for secondary choroidal neovascularization in pediatric patients with symptomatic choroidal osteomas is discussed.

Huge osteoma in the frontoparietal bone caused by trauma from 18 years ago: a case report.

BACKGROUND: Osteomas are asymptomatic, benign tumors and are diagnosed accidentally by radiological investigations conducted for other reasons. In some cases, they may cause aesthetic or functional symptoms by affecting nearby organs. The cause of osteoma is still dialectical. Many theories suggest that inflammation, trauma, or congenital causes are behind its formation. In our case, the patient presented with a symptomatic and huge osteoma in the frontoparietal bone caused by trauma from 18 years ago. CASE PRESENTATION: A 24-year-old Syrian woman came to our hospital complaining of headaches, syncope episodes, blurred vision, and tumor formation in the frontoparietal region. The medical and surgical histories of the patient revealed appendectomy and head trauma when she was 6 years old in a traffic accident. Radiological investigations showed thickness in the space between the two bone plates in the left frontoparietal region, which reached the orbital roof without cortical destruction or periosteum reaction; the tumor size was 5 cm × 5 cm. A surgical excision was indicated. Under general anesthesia, the surgery was done for the tumor excision. The histopathology examination emphasized the diagnosis of osteoma. The follow-up for 7 months was uneventful. CONCLUSION: This paper highlights the importance of focusing on the medical history of patients with osteoma in an attempt to explain the reasons for its occurrence. It stresses the need to put osteoma within the differential diagnoses of skull tumors.

Pachydysostosis of the fibula in a case of familial adenomatous polyposis.

BACKGROUND: Familial Adenomatous Polyposis (FAP) is a colorectal cancer (CRC) predisposition syndrome caused by germline APC mutations and characterised by an increased risk of CRC and colonic polyps and, in certain forms, of specific prominent extraintestinal manifestations, namely osteomas, soft tissue tumours and dental anomalies. Pachydysostosis of the fibula is a rare clinical entity defined by unilateral bowing of the distal portion of the fibula and elongation of the entire bone, without affectation of the tibia. CLINICAL REPORT: We report a 17-year-old male, who presented with a non-progressive bowing of the right leg detected at 18 months of age caused by a fibula malformation (later characterized as pachydysostosis) and a large exophytic osteoma of the left radius, noticed at the age of 15 years, without gastrointestinal symptoms. There was no relevant family history. Detailed characterisation revealed multiple osteomas, skin lesions and dental abnormalities, raising the hypothesis of FAP. This diagnosis was confirmed by genetic testing [c.4406_4409dup p.(Ala1471Serfs*17) de novo mutation in the APC gene] and endoscopic investigation (multiple adenomas throughout the colon, ileum and stomach). DISCUSSION: This case report draws attention to the phenotypic spectrum of skeletal manifestations of FAP: this patient has a congenital fibula malformation, not previously associated with this syndrome, but which is likely to have been its first manifestation in this patient. This clinical case also illustrates the challenges in the early diagnosis of FAP, especially without family history, and highlights the importance of a multidisciplinary approach and the adequate study of rare skeletal abnormalities.

Questioning the value of stalk drilling after external auditory canal osteoma excision: case series, literature review, and meta-analysis.

OBJECTIVES: To question the value of drilling the site of the stalk ("insertion site" or "stalk" drilling) of a pedunculated external auditory canal osteoma (EACO) in reducing recurrence. DATA SOURCES: A retrospective medical chart review of all patients treated for EACO in one tertiary medical center, a systematic literature review using Medline via "PubMed", "Embase", and "Google scholar" search, and a meta-analysis of the proportion for recurrence of EACO with and without drilling. RESULTS: The local cohort included 19 patients and the EACO origin was the anterior EAC wall in 42% and the superior EAC wall in 26%. The most common presenting symptoms were aural fullness and impacted cerumen (53% each), followed by conductive hearing loss (42%). All patients underwent post-excision canaloplasty, and one sustained EACO recurrence. Six studies suitable for analysis were identified (63 EACOs). Hearing loss, aural fullness, otalgia, and cerumen impaction were the most common clinical presentations. The most common EACO insertion site was the anterior EAC wall (37.5%), followed by the superior EAC and posterior walls (25% each). The inferior EAC wall was least affected (12.5%). There was no significant difference in recurrence between EACOs whose stalk insertions were drilled (proportion 0.09, 95% confidence interval [CI] 0.01-0.22) to the ones whose insertion was not drilled (proportion 0.05, 95% CI 0.00-0.17). The overall recurrence proportion was 0.07 (95% confidence interval 0.02-0.15). CONCLUSION: EACO insertion site drilling does not reduce recurrence and should be avoided in the absence of a definite pedicle projecting to the EAC lumen.

A novel APC mutation associated with Gardner syndrome in a Chinese family.

Gardner syndrome (GS) is a specific form of familial adenomatous polyposis (FAP), which manifests as colorectal polyps, multiple osteomas and soft tissue tumors, and in the oral cavity as osteomas of the jaws, odontomas, and abnormal tooth counts. The underlying cause of GS is attributed to mutations in the APC gene. Mutations in this gene disrupt the normal functioning of the protein and lead to the development of GS. To further investigate GS, a family affected by the syndrome was selected from Dongguan, Guangdong Province. The family members underwent a comprehensive survey, which involved collecting clinical data and peripheral venous blood samples. The samples were then used for genetic analysis. Whole exome sequencing (WES) and Sanger sequencing techniques were utilized to screen and identify specific mutation sites in the APC gene. The clinical findings for the GS family included the presence of gastrointestinal polyps and odontomas. After analyzing the genetic sequencing results, a novel mutation site c.4266dupA on the APC gene was found in the patients, which leading to the APC protein truncation. As a result of this study, it is suggested that odontoma may be an early indicator of GS. Additionally, the identification of this novel mutation site in the APC gene expands the known spectrum of genetic mutations associated with the disease. This discovery has significant implications for the early diagnosis of GS, thus enabling timely intervention to reduce the risk of developing colon cancer and other related diseases.

A role for total alloplastic temporomandibular joint replacement in Gardner syndrome.

Gardner syndrome (GS) is a rare autosomal dominant disorder that can present with craniomaxillofacial abnormalities. The identification of osteomas or craniomaxillofacial abnormalities can therefore serve as a marker of this condition, facilitating early referral and diagnosis. A 17-year-old female with GS was referred for the management of severe limited mouth opening, causing a major problem for routine endoscopy to monitor the gastrointestinal alterations of GS. Clinical and radiological evaluations showed multiple osteomas in the mandibular angle, condylar and coronoid regions bilaterally and maximum mouth opening of 8 mm. The patient underwent surgery for osteoma removal and bilateral customized alloplastic total temporomandibular joint replacement (TMJ-TJR). At the 2-year follow-up, the patient showed improvements in quality of life, with a maximum mouth opening of 34 mm, allowing routine upper endoscopy to be performed. This is the first report of GS, a rare and challenging craniomaxillofacial abnormality, treated with TMJ-TJR. A comprehensive overview of the patient's clinical presentation, diagnostic assessment, treatment planning, and outcomes is provided.

Benign bony lesions of paranasal sinuses and skull base: from osteoma to fibrous dysplasia.

PURPOSE OF REVIEW: Benign bony lesions of the craniofacial complex are relatively common. However, their location close to critical neurovascular structures may render their treatment, if required, highly challenging.This article reviews the current literature on their pathophysiology, diagnosis, natural course and treatment, with a focus on most recent findings. RECENT FINDINGS: A new classification has been suggested concerning endoscopic resectability. The ratio of lateral frontal to interorbital distance can accurately and reliably predict the endoscopic reach to lateral frontal sinus, while orbital transposition can assist us in reaching lateral frontal sinus when anatomy is unfavorable. New and combined endoscopic transnasal and transorbital approaches are now in the surgical armamentarium. Prophylactic optic nerve decompression in fibrous dysplasia is absolutely contraindicated as it leads to worse visual outcomes. Radiotherapy of such lesions is of no benefit and may lead to a higher risk of malignant transformation. The presence of Guanine Nucleotide binding protein Alpha Stimulating (GNAS) mutation in chromosome 20 is universally present in fibrous dysplasia and can differentiate them from ossifying fibromas. SUMMARY: Diagnosis and therapeutic management of benign craniofacial bone lesions remains challenging. If surgical treatment is contemplated, the morbidity of the intervention should always be weighed against the potential benefits. Evolution of extended endoscopic endonasal and transorbital surgery means that more lesions can be reached purely endoscopically with better oncological and cosmetic results.

[Mastoid osteoma]. / Osteoma sostsevidnogo otrostka.

Osteomas of the temporal bone are rare, especially osteomas originating from the mastoid process. Most often occur in women aged 20-30 years. The maximum growth rate is observed during puberty. Usually, the neoplasm becomes an accidental finding on X-rays or CT scans. The clinic of osteoma depends on its location and size. The patient may complain of a cosmetic defect, headache, discomfort and a feeling of heaviness in the area of the neoplasm. In this clinical case, a long-term asymptomatic course of osteoma of the temporal bone is described. CT examination was used for its visualization, and treatment was carried out surgically using a drill.

Clinical features and therapeutic management of choroidal osteoma: A systematic review.

Choroidal osteoma is a benign ossifying tumor within the choroid. Complications associated with choroidal osteoma, including disruption of retinal pigment epithelium, atrophy of photoreceptors, subretinal fluid, and choroidal neovascularization, present challenges for clinicians, and management remain controversial. We performed a comprehensive search in the PubMed, EMBASE, and Ovid databases for published studies and case reports relating to the management of choroidal osteoma. Since it was first described in 1978, various case reports of ocular complications associated with choroidal osteoma have been documented, and various therapies have yielded different outcomes. We systematically evaluate the literature published on this rare entity.

Subdural osteoma in an adolescent patient with epilepsy: an unusual case report and literature review.

OBJECTIVE: Subdural osteoma (SO) is a rarely reported benign tumor, and there is no report of SO manifested with epileptic seizures. We aim to further the understanding of SO-related epilepsy. METHODS: Here, we report a meaningful case of epilepsy secondary to SO. A systematic review of the literature about SO using the electronic database PubMed and Web of science up to December 2022 was conducted. RESULTS: A 15-year-old girl presented with epileptic seizures for 8 years. Magnetic resonance imaging revealed an irregular lesion with heterogeneous signal in the right frontal convexity. Right frontal craniotomy was performed to remove the lesion. The pathological diagnosis was SO. Histological analysis revealed that the mechanosensitive ion channels Piezo 1/2 were upregulated in the brain tissue compressed by the osteoma, compared with the levels in the osteoma-free region. Seizure freedom was obtained during the 6-month follow-up after the surgery. We identified 24 cases of SO in 23 articles. With our case, a total of 25 cases with 32 SOs was included. Of 25 cases, 24 are adults, and 1 is a child. Seizure has been reported only in our case. Frontal osteoma was found in 76% of the patients. Symptoms were cured in 56% of the patients after surgery. CONCLUSION: Surgery is a safe and effective approach to the treatment of symptomatic osteoma. Mechanical compression on cerebral cortex may be a predisposing factor of the epileptogenesis caused by the SO.

Rare Recurrent Giant Frontal Osteoma With Skin Multiple Keratinous Cysts and Multinucleated Giant Cell Granulomas.

BACKGROUND: Osteoma is the most common benign tumor of the craniomaxillofacial region. Its etiology remains unclear, and the computed tomography and histopathologic examination contribute to its diagnosis. There are very rare reports of recurrence and malignant transformation after surgical resection. Furthermore, giant frontal osteomas that occurred repeatedly and were accompanied by skin multiple keratinous cysts and multinucleated giant cell granulomas have not been reported in previous literature. METHODS: The previous cases of recurrent frontal osteoma in the literature and all cases of frontal osteoma in our department in the last 5 years were reviewed. RESULTS: A total of 17 cases of frontal osteoma (mean age 40 y, all female) were reviewed in our department. All patients underwent open surgery to remove the frontal osteoma, and no evidence of complications was found during postoperative follow-up. Two patients underwent 2 or more operations due to the recurrence of osteoma. CONCLUSIONS: Two cases of recurrent giant frontal osteoma were reviewed emphatically in this study, including 1 case of giant frontal osteoma with skin multiple keratinous cysts and multinucleated giant cell granulomas. As far as we know, this is the first giant frontal osteoma that occurred repeatedly and was accompanied by skin multiple keratinous cysts and multinucleated giant cell granulomas.

Diagnosis and Management of Craniofacial Osteomas.

IMPORTANCE: Osteoid osteomas are benign bony overgrowths that can occur in any region of the body. However, they have a predilection to occur in the craniofacial region. Because of the rarity of this entity, there is a lack of literature detailing the management and prognosis of craniofacial osteoid osteomas. OBSERVATIONS: Craniofacial osteomas have a predilection to involve the paranasal sinuses, but can also be found within the jaw, skull base, and facial bones. Because of their slow-growing nature, craniofacial osteomas are often incidentally discovered on routine imaging or after they compress nearby structures or distort nearby anatomy. Osteoid osteomas of the face can be treated with resection via various approaches. Recent advancements describe minimally invasive endoscopic techniques and adjuvant therapy with radiofrequency ablation guided by cone biopsy computed tomography. Osteoid osteomas have an excellent prognosis with complete resection. They demonstrate a low incidence of recurrence when compared with other osteoblastic lesions of the craniofacial structures. CONCLUSIONS AND RELEVANCE: Craniofacial osteoid osteomas remain a developing topic within the field of craniofacial surgery. Their removal may be trending toward minimally invasive techniques. However, all treatment modalities appear to result in improved cosmetic outcomes and low recurrence rates.

A rare case report of extensive mandibular osteoma corrected by unilateral mandibulectomy: Cytological, radiological, and pathological investigation.

Background: Osteoma is a benign bone tumor that rarely affects animals. The most common bones involved with this tumor included the mandible, maxillofacial bones, and nasal sinuses. Definitive diagnosis is based on pathology findings which allow for differentiation with other bone lesions. Case Description: The patient, a 5-year-old intact male Mongrel dog presented with a huge mandibular mass that involved both the right and left mandible, and led to dental occlusion. The radiography was performed and depicted the intense mass with a well-demarcated edge, a short transitional zone between normal and abnormal bone, and a smooth rounded radiopaque appearance. The investigation according to the fine needle aspiration showed the presence of oval to spindle shape cells with poorly malignancy criteria, fatty cells, reactive osteoblasts, and osteoclasts based on a population of spindle-shaped cells, and low numbers of degenerated neutrophils, bacteria, and few macrophages. Then, the radiographic assessments and cytology findings demonstrated the osteoma and were referred for surgical intervention. A unilateral mandibulectomy was performed, and the lesion was sent to the histopathology laboratory. The histopathology evaluation showed osteocyte proliferation without malignancy features. The osteoblast cells also showed no atypical proliferation that endorses the osteoma tumor. Conclusion: Although mandibular and maxillofacial bone resection in small animals have different tolerations, this patient became a candidate for surgery for future better nutrition and prevention of facial deformity and dental malocclusion. Follow-up after osteoma is one of the most necessary post-operation treatments to check the regeneration of the mass. There are considerable data in this report that should regard this tumor as a possible differential diagnosis for mandibular tumors.

Endoscopic Approach for Resection of Frontal Forehead Osteoma: Technical Case Report Instruction.

Forehead osteomas are benign bone tumors. They are frequently associated with exophytic growth in the outer table of the skull, causing cosmetic disfigurement of the face.1-9 The objective of this study was to present the efficacy and feasibility of the endoscopic treatment of forehead osteomas by presenting a case report with details of the surgical technique. A 40-year-old female patient presented with aesthetic complains of a progressing bulge in the forehead. A computed tomography scan with 3-dimensional reconstruction showed bone lesions on the right side of the forehead. The patient underwent surgery under general anesthesia with no noticeable incision, which was planned 2 cm behind the hairline in the midline because the osteoma was close to the midline plane on the forehead (Video 1). A retractor coupled with a 4-mm channel for endoscopy and a 30-degree optic was used to dissect, elevate the pericranium, and locate the 2 bone lesions in the forehead. The lesions were removed using a chisel, endoscopic facelifting raspatory, and a 3-mm burr drill. The tumors were resected completely, resulting in good cosmetic outcomes. The endoscopic approach for treating forehead osteomas is less invasive and facilitates complete removal of tumors, which results in good cosmetic outcomes. Neurosurgeons should consider and add this feasible approach to enhance their surgical armamentarium.

Osteoma of the ethmoid sinus in a pediatric patient - a case report.

BACKGROUND: Osteomas of the paranasal sinuses occur rarely in the pediatric population, we find only a few reference of symptomatic osteomas in the literature. Opinions on the indication for surgical treatment are controversial. CASE: The authors present a case of symptomatic osteoma of the right ethoimoidal sinus in a 12-year-old boy, who was treated surgically, with endoscopic endonasal approach. The symptomatology, diagnosis and therapy of these tumors in the pediatric patient are discussed. CONCLUSION: Osteomas of the paranasal sinuses are slow-growing benign lesions. Symptomatic osteomas can grow expansively and cause serious complications. The treatment of osteoma is surgical and the endoscopic approach offers the possibility of removal with cosmetic benefits.