Analysis of Diagnosis and Treatment Strategies for Primary Juvenile Psammomatoid Ossifying Fibroma Complicated With Primary Aneurysmal Bone Cyst.

BACKGROUND: Juvenile Psammomatoid Ossifying Fibroma (JPOF) is a type of noncancerous bone tumor that usually affects adolescents in the craniomaxillofacial area. Clinical manifestations are usually symptoms caused by the tumor's invasive compression of surrounding tissues. Aneurysmal Bone Cyst (ABC) is also a benign bone tumor, and it typically occurs in long bones and the spine. Only 2% to 3% of cases occur in the head and neck. Due to the rarity of this combination of clinical cases, clinicians face difficulties in comprehensively understanding this complex lesion. Therefore, a comprehensive review of the clinical manifestations and characteristic imaging findings is necessary for surgeons. CASE PRESENTATIONS: On April 6, 2019, a 13-year-old boy presented with left maxillofacial bulge and pain for 1 month. Magnetic resonance imaging of the paranasal sinuses showed an irregular hive-like mass signal in the left maxillary sinus, and cystic changes with fluid levels were seen in the lesion. After the initial diagnosis of JPOF with primary ABC, we decided to perform a facial mid-facial resection of maxillary sinus tumor to remove the tumor tissue. Finally, after 3 recurrences and 4 operations, there was no tumor recurrence for 20 months after the last operation, and the patient was still under continuous follow-up. CONCLUSIONS: This case provided a reference for the diagnosis and treatment of JPOF combined with ABC. In particular, a new understanding of the association between the two diseases and the management of recurrence were proposed, which had the potential to improve clinical understanding of this complicated condition.

Juvenile Psammomatoid Ossifying Fibroma of the Orbital Roof: A Rare Cause of Proptosis among Children.

INTRODUCTION: Juvenile psammomatoid ossifying fibroma (JPOF) is a rare bone tumor characterized by a predilection for the sinonasal region and a tendency to affect younger patients, with a potential for aggressive growth and high recurrence (30-56%). JPOF warrants complete surgical resection to avoid recurrence. CASE PRESENTATION: In this article, we report a young boy who presented with unilateral prop-tosis with an expansile bony tumor with ground glass appearance involving the left frontal bone and orbital roof on his images. Complete surgical resection was done, and histopathological examination revealed JPOF with abundant psammomatoid bodies. DISCUSSION: This patient is a rare case of neurocranial JOPF and adds new features to the typical features already described for JPOF.

Anetoderma in a patient with terminal osseous dysplasia with pigmentary defects.

Terminal osseous dysplasia with pigmentary defects (TODPD) is a rare, X-linked syndrome classically characterized by distal limb anomalies, pigmented skin defects of the face, and recurrent digital fibromas. X-inactivation plays a major role in determining the range of phenotypic expression. Thus, patients can demonstrate a wide spectrum of disease severity, making accurate diagnosis more challenging. Recent studies have identified a FLNA c.5217G>A mutation as the cause of TODPD, allowing for diagnostic genetic testing. We present a case of molecularly confirmed TODPD in a girl with the 47,XXX chromosomal complement and deformities of the hands and feet, craniofacial abnormalities, and discolored, linear facial lesions. Skin biopsy of the patient's facial lesion revealed absent papillary dermal elastic fibers, consistent with anetoderma, which contrasts with the dermal hypoplasia described in the only other such facial biopsy reported in the literature. The finding of absent elastic fibers in the skin lesions suggests that mutated filamin A, in part, exerts its effects through dysregulated elastin biology, which may explain the nature of many connective tissue pleotropic effects in FLNA-related disorders.

Secondary jaw aneurysmal bone cyst (JABC)--a possible misnomer? A review of literature on secondary JABCs, their pathogenesis and oncogenesis.

CONTEXT: Aneurysmal bone cysts are rare pseudocysts, commonly seen in long bones and vertebral column. Although a well described and reported lesion, many misconceptions still prevail regarding their etiopathogenesis. Many of the reported cases of jaw aneurysmal bone cysts (JABC) present with another bone pathology. AIMS: The purpose of this review was to evaluate the incidence of neoplastic lesions occurring simultaneously with a JABC (in contrast to primary JABCs). Any pathogenetic and oncogenetic association between primary and secondary jaw ABCs has been reviewed and discussed. SETTINGS AND DESIGN: A methodical narrative review of literature was performed, given the incidence of mostly case reports on this topic. METHODS AND MATERIAL: A methodical electronic search of Pubmed, Pubmed Central, Medline and Cochrane databases was performed for reported cases of JABC. These articles were analysed and segregated into primary and secondary ABC and, if secondary, the lesion it concurrently occurred with. Another search was conducted to yield articles discussing the cytopathogenetic and oncogenetic origins of ABCs. RESULTS AND CONCLUSIONS: About 15% of the ABCs reported were of secondary nature. Amongst the associated lesions, cement-ossifying fibroma and ossifying fibroma were the most common, followed by fibrous dysplasia and central giant cell granuloma. No ABCs were associated with metastatic changes. The search for histopathogenesis pointed to a specific cytogenetic abnormality as the origin of primary ABCs, with USP6 as its main oncogene and spindle cell as the neoplastic cell, unlike with secondary ABCs, suggesting that they are distinct pathological processes.

Ossifying fibroma in Buschke-Ollendorff syndrome.

Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor-ß (TGF-ß) signaling and resultant changes in fibroblast function. TGF-ß alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and skeletal abnormalities have been associated with Buschke-Ollendorff syndrome. Herein, we report a novel association between ossifying fibroma and Buschke-Ollendorff syndrome and discuss how these conditions are likely to be mechanistically linked.

Surgical management of synchronous central giant cell granuloma and ossifying fibroma of the mandible.

We describe the surgical management of an uncommon case of synchronous presentation of central giant cell granuloma and ossifying fibroma in the mandible. A mandibular resection was performed and a fibula-free flap was harvested to reconstruct the defect.

Tumor-induced Osteomalacia in a Boy with Maxillary Ossifying Fibroma

Tumor-induced osteomalacia (TIO) is a rare, paraneoplastic disorder of hypophosphatemia associated with elevated tumor-produced fibroblast growth factor 23 (FGF23). Maxillofacial tumors are rarely involved in TIO, especially maxillary TIO in children. We present a 14-year-old boy with osteomalacia and high serum levels of FGF23, a hormone associated with decreased phosphate resorption, due to a maxillary tumor. The patient was treated with oral phosphorus and calcitriol, and surgical removal of the tumor was performed. After 21 months follow-up, he was pain free and had returned to full activity. We review the reported pediatric cases of TIO in the maxillofacial and oral region and discuss the management of these patients considering the published evidence.

Aneurysmal bone cyst secondary to ossifying fibroma in the orbit.

A 28-year-old man presented with proptosis and medial displacement of the right eye, intermittent pain, and diplopia of 1 month's duration. Radiologic examination demonstrated a mass in the right lateral orbit resembling an aneurysmal bone cyst (ABC). Histopathologic evaluation of the surgically excised lesion via orbitotomy confirmed the radiologic diagnosis. Two months later, the patient presented again with a mass at the same location as the previous one, with a major component that was solid. The recurrent lesion was excised via frontal craniotomy. Histopathologic examination of the surgical specimen led to a diagnosis of ABC secondary to trabecular ossifying fibroma. During the follow up of 13 months, the lesion did not recur. To the best of the authors' knowledge, this is the first case of ABC secondary to ossifying fibroma in the orbit. ABC can dominate the radiologic appearance of the lesion and veil the primary neoplasm.

Osseous (cemento-osseous) dysplasia of the jaws: clinical and radiographic analysis.

OBJECTIVES: To explore the demographic characteristics and clinical features among patients with osseous (cemento-osseous) dysplasia (OD/COD) of the jaws and to determine the frequency of particular radiographic characteristics. METHODS: The charts and radiographic reports of 118 patients with OD/COD, obtained from the archives of the University of Toronto discipline of oral and maxillofacial radiology, were reviewed. Demographic and clinical data, radiographic findings and final diagnoses were collected and analyzed to determine typical characteristics. RESULTS: Of the 117 patients for whom age and sex were known, the majority (97 [82.9%]) were female; these female patients had a mean age (± standard deviation) of 44.3 ± 13.4 years. Eighty-three (72.2%) of the 115 patients for whom symptoms were known were clinically asymptomatic. Ninety-three patients (78.8%) had OD/COD at single sites (i.e., periapical OD/COD), and 25 (21.2%) had OD/COD at multiple sites (i.e., florid OD/COD). In addition, 15 (12.7%) of the cases were associated with one or more simple bone cysts, and 13 (11.0%) were associated with osteomyelitis. In most cases, the OD/COD was unilateral, with the lesion being located in the mandible, usually associated only with the posterior teeth. The lesions exhibited well-defined, sclerotic or corticated margins (108 patients [91.5%]) and were surrounded by a radiolucent border. Minimal effects on surrounding structures were observed. As well, 85 (72.0%) of the lesions were in the mixed radiolucent-radiopaque stage, with dense, cementum-like radiopacities. CONCLUSIONS: The majority of cases of OD/COD occurred in women in the fifth decade of life, and most cases were asymptomatic. OD/COD was more likely to present as solitary lesions but also occurred in association with simple bone cysts or osteomyelitis.

Trabecular juvenile ossifying fibroma with aneurysmal bone cyst: a rare presentation.

Juvenile ossifying fibroma is an uncommon, benign, bone-forming neoplasm that is distinguished from other fibro-osseous lesions primarily by its age of onset, clinical presentation, and potential behavior. It mainly occurs in juveniles and has a slight male predilection and more aggressive behavior than a common ossifying fibroma. There are 2 distinct histopathological variants of this lesion: (1) psammomatoid pattern and (2) trabecular pattern. An aneurysmal bone cyst may occur in association with other bone lesions, such as fibrous dysplasia, ossifying fibroma, and giant cell lesion. The clinical management and prognosis of juvenile ossifying fibroma is somewhat uncertain, and this tumor has high rates of recurrence. Such behavior may be related to younger patient age and the concurrent development of aneurysmal bone cyst. The purpose of this paper was to report a case of trabecular juvenile ossifying fibroma in a 9-year-old girl associated with an aneurysmal bone cyst, presenting an aggressive behavior, and causing significant facial asymmetry.

Giant peripheral ossifying fibroma with coincidental squamous cell carcinoma: a case report.

BACKGROUND: Peripheral ossifying fibroma is an inflammatory or reactive hyperplasia of the gingiva that is usually small. It is formed by hard tissue in fibrous tissue, and the name "neoplastic lesion" has tended to be used frequently in Europe and America. Clinically, peripheral ossifying fibromas are painless, solitary, exophytic, sessile, or pedunculated and more frequently found in females than in males. To the best of our knowledge, there have been no reports of malignant cases. We herein report the case of giant peripheral ossifying fibroma with squamous cell carcinoma. CASE PRESENTATION: The patient was an 83-year-old Japanese woman who visited our hospital with a gingival massive mass. She was referred to us for an examination and treatment because it was difficult to perform tracheal intubation for surgery of sigmoid colon cancer at another hospital. The mass measured 83 × 58 × 35 mm, and it protruded to the extra-oral region from the right maxillary premolar alveolar region. Panoramic X-ray revealed the shadow of the mass in the right maxillary premolar region, which included some hard tissue. Computed tomography showed scattering calcified images in the mass. Magnetic resonance imaging was not performed because she had vertebral artery clips and screws in her forehead. Given the above findings, we performed a biopsy under local anesthesia. However, we were unable to diagnose absolutely whether the dysplastic squamous epithelia were pseudocarcinomatous hyperplasia of the gingiva or well-differentiated squamous cell carcinoma. Therefore, tumor resection was performed under general anesthesia. The histopathological diagnosis was peripheral ossifying fibroma with coincidental squamous cell carcinoma. There have been no signs of recurrence during follow-up as of 2 years after surgery. CONCLUSIONS: The etiology of giant peripheral ossifying fibroma with squamous cell carcinoma is still not definite. Therefore, careful observation is necessary. It needs to be examined by accumulation of more cases in the future. We herein report the case of giant peripheral ossifying fibroma coincidental squamous cell carcinoma.

Calcifying aponeurotic fibroma around posterior tibialis tendon in an elderly patient with flatfoot: A case report.

RATIONALE: Calcifying aponeurotic fibroma (CAF) is a rare benign fibroblastic tumor that is commonly in the hand or foot of children or adolescents. PATIENT CONCERNS: A 74-year-old female presented with a progressive pain on the medial foot for 3 years ago. The pain aggravated while walking or in a standing position for more than 20 minutes. She also complained of skin contact along the medial aspect of the foot while trying to wear a shoe. DIAGNOSIS: Physical examination revealed a firm, immobile, nontender mass accompanied with flexible flatfoot. On the single heel raise test, loss of the balance and intensification of the pain were observed. Faintly calcified soft tissue mass is shown in plain radiographs without bone involvement. Magnetic resonance imaging revealed a subcutaneous mass with ill-defined circumscribed subcutaneous mass adherent to the thickened PTT. INTERVENTIONS: The patient underwent a complete excisional biopsy, followed by medial displacement calcaneal osteotomy. OUTCOMES: The excised mass was diagnosed to be CAF on the histologic examination. At the 1-year follow-up, patient remained asymptomatic with no evidence of recurrence and all the radiographic parameters demonstrating flat foot improved. LESSONS: This is the first case of CAF located at PTT presenting with both foot pain and functional disability. In this case, complete excision of the causative structure along with alignment correction can contribute to successful postoperative outcome.

Fatigue-type stress fractures of the lower limb associated with fibrous cortical defects/non-ossifying fibromas in the skeletally immature.

AIM: To investigate the association of a fatigue-type stress fracture and a fibrous cortical defect/non-ossifying fibroma (FCD/NOF) of the lower limb long bones in skeletally immature patients. MATERIALS AND METHODS: The patient database of a specialist orthopaedic oncology centre was searched to determine the number of skeletally immature patients (

Aneurysmal bone cysts of the jaws: analysis of 17 cases.

PURPOSE: Aneurysmal bone cysts (ABCs) are benign osteolytic lesions that occur relatively rarely in the jaws. The aim of the present study was to investigate the clinical and radiographic characteristics, pathologic features, and treatment results of ABCs of the jaws (JABCs). MATERIALS AND METHODS: A retrospective analysis of a 20-year database, including 17 cases of JABC, was performed. RESULTS: A total of 17 patients, 9 males and 8 females, aged 7 to 47 years (mean 20.4, median 14), were included. Of the 17 lesions, 15 (88.2%) were located in the mandible and 2 (11.8%) in the maxilla. A painless (12 of 17, 70.6%) or painful (3 of 17, 17.6%) swelling was the most common clinical finding. The pathologic analyses revealed that 13 JABCs (76.5%) were secondary in nature, including 11 cases associated with ossifying fibroma. Radiologically, the lesions frequently presented as multilocular (58.8%), well-defined (70.6%) radiolucencies (82.4%). Two lesions (11.8%) recurred. CONCLUSIONS: Our results suggest that most JABCs are secondary in nature and frequently associated with ossifying fibroma. The patients with JABCs presented with various clinical and radiographic features and therefore often posed a diagnostic dilemma. Resection is the preferred treatment of JABCs.

Cranial ossifying fibroma causing visual disorder.

Fibrous lesions of the head and the maxillofacial region are generally slow-developing benign tumors that may aggressively take course in clinical terms. These locally destructive lesions show a high recurrence rates unless they are removed gross totally. Sarcomatoid degeneration is also reported to develop in recurring lesions. Difficulties in the diagnosis, classification, and treatment make this entity complex for several years. These tumors are frequently seen among children and young adults. The maxilla and the mandibula are the 2 most common sites that the tumor originates. In our article, we discuss a 59-year-old man whose condition was diagnosed as an ossified fibroma revealing craniofacial extension. Accompanied by literature findings, it has been underlined that, as well as with the pathologic criteria, clinical features and radiologic images should be evaluated together for a specific diagnosis in fibrous lesions.

Cemento-ossifying fibroma presenting as a posterior fossa mass lesion.

Cemento-ossifying fibromas are benign lesions of the jaw, which arise from the periodontal membrane. Histopathologically these are composed of fibrous tissues with calcified structures resembling bone and cementum. Surgical resection is the treatment of choice. They have rarely been reported in the ethmoid sinus, maxillary sinus and sphenoid sinus Mastoid bone is an extremely rare site of such tumors. Only one case of cemento-ossifying fibroma of petromastoid bone has been reported before. We present a case of cementoossifying fibroma involving the petromastoid bone, with the large intracranial component causing compression on the cerebellum. This unique case may provide insight into the etiopathogenesis of these tumors.

Endoscopic Optic Nerve Decompression for Optic Neuropathy in Sinonasal Fibro-Osseous Tumors.

BACKGROUND: Sinonasal fibro-osseous tumors involving the skull base sometimes result in the encasement of the optic canal and can cause the compressive optic neuropathy. This study aimed to elucidate the optimal timing of endoscopic optic nerve decompression (OND) in cases with optic neuropathy caused by fibro-osseous tumors. METHODS: Medical records were reviewed retrospectively from July 2008 through November 2016. Subjects who underwent surgery with endoscopic OND for optic neuropathy caused by fibro-osseous lesions were enrolled. Pre- and postoperative ophthalmologic evaluation were analyzed, including best-corrected visual acuity, visual field testing, and color vision. RESULTS: A total of 9 patients underwent OND. Seven patients had fibrous dysplasia and 2 patients had juvenile ossifying fibroma. Patients included 6 boys and 3 girls. The average age was 15 years with a range of 8-17 years. Symptom duration ranged from 2 months to 4 years. The mean follow-up period was 28 months (range, 0.8-76.4 months). There was no immediate deteriorated vision after OND. Eight eyes (88.9%) were improved and 1 eye (11.1%) had only visual field improvement. However, patients whose visual impairment was in the range of finger count and hand motion were not recovered beyond the quantitatively measurable level even after OND. CONCLUSIONS: Endoscopic OND in patients with optic neuropathy caused by a fibro-osseous tumor in the sinonasal region is safe and worth trying to improve visual outcomes. Early therapeutic OND is recommended before the patient's visual function is decreased below quantitatively measurable vision.

Juvenile psammomatoid ossifying fibroma of the calcaneus.

Juvenile ossifying fibromas (JOFs) are a rare group of fibro-osseous lesions, typically of odontogenic origin. Juvenile psammomatoid ossifying fibroma (JPOF) is one variant, that is, histopathologically distinguished by spherical ossicles resembling psammoma bodies. JPOF tumours are most commonly found in craniofacial skeletal structures and can be locally aggressive. Thus, early management by complete surgical excision is crucial for good outcomes, although recurrence is still possible. Secondary aneurysmal bone cyst (ABC) formation has been reported with JOF lesions, but less commonly with the JPOF variant. We describe an unusual case of JPOF that presented in the calcaneus with secondary ABC formation.

Central ossifying fibroma of mandible.

Ossifying fibroma (OF) is a rare, benign, fibro-osseous lesion of the jawbone characterised by replacement of the normal bone with fibrous tissue. The fibrous tissue shows varying amount of calcified structures resembling bone and/or cementum. The central variant of OF is rare, and shows predilection for mandible among the jawbone. Although it is classified as fibro-osseous lesion, it clinically behaves as a benign tumour and can grow to large size, causing bony swelling and facial asymmetry. This paper reports a case of large central OF of mandible in a 40-year-old male patient. The lesion was treated by segmental resection of mandible. Reconstruction of the surgical defect was done using avascular fibula bone graft. Role of three-dimensional printing of jaw and its benefits in surgical planning and reconstruction are also highlighted.

Deep palmar tumorous conditions of the hand.

PURPOSE: Deep palmar tumors of the hand are very rare, and reported cases are usually benign. The most important issue is frequent anatomical variations with challenging surgical exposure and excision of these lesions. Some case reports or a small series of patients have been reported in the literature. The aim of this study was to present our experience with the deep palmar tumors of the hand. PATIENTS AND METHODS: In the study, retrospective analyses of 43 patients treated with deep palmar tumors of the hand between January 1998 and June 2015 were evaluated. Tumors and tumor-like pathologies of the deep palmar space of the hand were retrospectively evaluated according to age, gender, localization, preoperative symptoms, size, site, treatment methods, histopathology, and early and late complications. Statistics and data analyses were also performed. RESULTS: All 43 pathologies were benign, and histopathologic diagnoses were 10 lipomas, 8 ganglions, 5 giant cell tumor of the tendon sheath, 4 schwannomas, 3 hemangiomas, 3 palmar fibromatosis, 2 epidermal cysts, 2 neurofibroma, 1 angiolymphoid hyperplasia with eosinophilia, 1 granuloma, 1 calcifying aponeurotic fibroma, 1 digital fibroma, 1 foreign body granuloma, and 1 lipofibromatous hamartoma. The most common complication was temporary numbness and paresthesias of the digits. Marginal excision was performed in 40 patients, excision with nerve grafting in 2 patients (with neurofibroma) and carpal tunnel release in one patient with lipofibromatous hamartoma. CONCLUSION: In the deep palmar space of the hand, pathologies are closely associated with tendons, muscles, and neurovascular structures. Preoperative magnetic resonance imaging is helpful for the preoperative diagnosis, evaluating tumor extension, and successful surgical planning. Level of Evidence: IV Therapautic.