Fibrous dysplasia of the head and neck in Southern Finland: a retrospective study on clinical characteristics, diagnostics, and treatment.

PURPOSE: Fibrous dysplasia (FD) is a rare genetic disease with benign bone tumors. FD can affect one (monostotic FD) or multiple bones (polyostotic FD), with craniofacial lesions being common. Because of its rarity, there are only few clinical reports on FD in the head and neck region and its clinical characteristics remain incompletely defined. This study aimed to determine patient demographics, symptoms, diagnostics, and given treatment in patients with FD of the head and neck in a Finnish population. METHODS: A retrospective review on all patients diagnosed with or treated for FD of the head and neck at the Helsinki University Hospital during 2005-2020. RESULTS: In total 74 patients were identified; 54% were male and the mean age 45 years. Overall 95% had monostotic FD. Mandibula and maxilla were the most common anatomic sites. Majority of patients had symptoms, most commonly pain and lesion growth, and 49% had extra-skeletal symptoms. For all, diagnosis was primarily based on imaging findings, biopsies were obtained from 41%. Altogether 54 patients (73%) were managed by observation only, 20 patients (27%) received treatment; ten bisphosphonates, six surgery and four both. CONCLUSION: Although highly variable in its clinical manifestations, head and neck FD lesions are often symptomatic and impose risk for extra-skeletal complications. Treatment is often conservative but should be individually tailored. Future studies are encouraged to better define the disease characteristics and hopefully offer new treatment possibilities.

Fibrocartilaginous Dysplasia of the Proximal Femur in Two Pediatric Patients, Including a Pathologic Fracture in a Patient With McCune-Albright Syndrome.

Fibrocartilaginous dysplasia (FCD) is a variant of fibrous dysplasia that often involves the proximal femur in young adults. It has a similar appearance on imaging as other entities but has stippled calcifications within the lesion. The differential diagnosis often includes benign and malignant tumors such as fibrous dysplasia, chondroblastoma, enchondroma, and chondrosarcoma. Histology is required for diagnosis and treatment is typically surgical due to the potential for pain, pathologic fracture, and deformity. We report the clinical presentation, imaging findings, and management of two pediatric patients with fibrocartilaginous dysplasia of the proximal femur to (1) highlight that recognition that fibrous dysplasia may contain cartilage upon frozen section will avoid overly aggressive therapy, and (2) FCD can occur in the McCune-Albright syndrome.

Severe craniofacial fibrous dysplasia associated with decreased visual acuity: a case report.

Fibrous dysplasia is a developmental abnormality characterized by the replacement of normal bone tissue by fibrous connective tissue with poorly organized bone trabeculae. This disorder rarely occurs in the craniofacial region, but in such cases it causes facial asymmetries and has severe clinical implications for the patient. This case report describes the treatment of an 18-year-old man who presented with complaints of facial deformity and decreased visual acuity. Cone beam computed tomography revealed a diffuse bone lesion affecting the region of the maxillary, frontal, and nasal bones on the left side of the face. After microscopic examination, the diagnosis of craniofacial fibrous dysplasia was made. The patient underwent a bilateral temporal craniotomy to perform decompression of the orbital apices and correct the loss of visual acuity. In addition, surgical cosmetic contouring of the facial bones was performed. The patient has been followed up by a multidisciplinary team; at his most recent examination, 18 months after the last surgical intervention, his clinical condition remained stable.

[A Case of Breast Cancer Complicated by Fibrous Dysplasia That Was Difficult to Differentiate from Bone Metastasis].

A 58-year-old woman with HER2-negative hormone-sensitive postmenopausal breast cancer underwent preoperative bone scintigraphy and CT to search for distant metastasis. Bone metastasis was suspected in the spinous process of the seventh cervical vertebra. MRI revealed a mass that was hypointense on T1- and T2-weighted images and hyperintense on diffusion- weighted images, with intense contrast enhancement, indicating bone metastasis at cT1N0M1, Stage Ⅳ(M: OSS). The patient underwent partial mastectomy and sentinel lymph node biopsy. The postoperative diagnosis was pT2N0cM1, Stage Ⅳ, with the status of bone metastasis being key to staging. PET-CT showed uptake in the spinous process of the seventh cervical vertebra but no other metastatic findings. However, solitary bone metastasis to the cervical spinous process is atypical. CT-guided needle biopsy confirmed benign fibrous dysplasia, and the final diagnosis was breast cancer at pT2N0M0, Stage ⅡA. Fibrous dysplasia is characterized by impaired osteogenesis leading to fibroplasia and commonly occurs in the skull, jaw bones, ribs, and limbs. Solitary fibrous dysplasia in the cervical spinous process is rare. The lesion was asymptomatic and pathologically benign, requiring no treatment. The patient underwent postoperative radiation therapy for the conserved breast and is followed up with endocrine therapy.

GNAS mutation analysis assists in differentiating chronic diffuse sclerosing osteomyelitis from fibrous dysplasia in the jaw.

Chronic diffuse sclerosing osteomyelitis of the mandible (DSOM) and fibrous dysplasia (FD) are distinct lesions with overlapping clinicopathological features that complicate their diagnosis. This study aimed to evaluate the efficacy of GNAS mutation analysis in differentiating between these two conditions. DNA samples from patients with DSOM (n = 35) and FD (n = 29) were collected to analyze the presence of GNAS mutations in exons 8 and 9, the two previously reported hotspot regions, using polymerase chain reaction and direct sequencing. Twenty-four of 29 patients (83%) with FD showed missense mutations in codon 201 in exon 8, whereas no mutation was detected in exon 9. No mutations were found in any of the 35 cases with DSOM. We also identified one case with an uncertain diagnosis due to overlapping clinicopathological features of DSOM and FD. A Q227H mutation was detected in this case, that confirmed the diagnosis of FD. Taken together, the findings indicate that mutational analysis of the GNAS is a reliable approach to differentiate between DSOM and FD of the jaw.

Fibro-Osseous Lesions Of The Craniofacial Complex In Horses: 30 Cases (2001-2019).

OBJECTIVE: To describe the presentation, diagnosis, treatment, and outcome for horses with fibro-osseous lesions of the craniofacial complex. STUDY DESIGN: Retrospective multicenter case series. ANIMALS: Thirty horses evaluated for fibro-osseous lesions of the skull from January 1, 2001 through December 31, 2019 in four centers. METHODS: Medical records were reviewed for signalment, clinical presentation, histological and diagnostic imaging findings, treatment instituted, and outcome. Long-term outcome information was obtained by owner questionnaire or the medical record. RESULTS: Diagnoses included ossifying fibroma in 20 of 30 horses, osteoma in eight of 30 horses, and fibrous dysplasia in two of 30 horses. Twelve of 30 lesions were diagnosed in horses <1 year old, and 20 of 30 lesions originated from the rostral mandible. The most common treatment was rostral mandibulectomy. Recurrence was not reported after complete excision. Incomplete excision was confirmed in eight horses (four ossifying fibromas, three osteomas, and one fibrous dysplasia), and follow-up information was available for seven horses. Recurrence occurred in one horse, while six horses had long-term resolution of clinical signs. Prognosis for survival and return to use was excellent in 23 horses with long-term follow-up. CONCLUSION: Fibro-osseous lesions were uncommon in this multicenter study; they were most commonly diagnosed in young animals and most frequently affected the rostral mandible. Long-term survival was excellent. CLINICAL SIGNIFICANCE: The definitive diagnosis of fibro-osseous lesions of the craniofacial complex in horses is made from results of histopathology and cannot be determined on the basis of clinical presentation alone. Surgical excision is indicated, and prognosis can be favorable even when complete surgical margins are not obtained.

Florid Cemento-osseous Dysplasia: A Report of Two Cases and Literature Review.

AIM: This report aims to provide the clinical and radiographic features of two symptomatic Indian patients with florid cemento-osseous dysplasia (FCOD), along with a discussion of the differential diagnosis, potential challenges, and therapeutic implications. BACKGROUND: FCOD is a rare, multifocal, periapical, and bilateral condition involving the premolar and molar region of the posterior mandible and sometimes the maxilla. CASE DESCRIPTION: The first patient is a 30-year-old female with a recent history of dental pain. The patient was otherwise healthy and the medical history was unremarkable. The second patient is a 50-year-old female with a history of orthodontic therapy. Radiographic evaluation using cone-beam computed tomography (CBCT) revealed bilateral involvement of the posterior mandible, sparing the entire maxilla in both patients Clinical significance: For a pathognomonic condition like FCOD, a radiology survey alone is often sufficient to arrive at the final diagnosis, and therefore surgical interventions should ideally be avoided.

Milk cloud appearance-a characteristic sign of fibrous dysplasia on contrast-enhanced MR imaging.

OBJECTIVE: To evaluate contrast-enhanced T1-weighted magnetic resonance (MR) images in histologically proven fibrous dysplasia (FD) for the prevalence of "milk cloud appearance" and its association with ground-glass appearance (GGA) on radiography or computed tomography (CT). METHODS: For this retrospective cohort study, 37 patients with histologically proven FD imaged preoperatively with contrast-enhanced MR imaging and radiography or CT were identified at our institution. Three radiologists independently evaluated MR images for the presence of milk cloud appearance on T1-weighted contrast-enhanced images, sites of skeletal involvement, type of bone involved, uni- vs. multifocality, mono- vs. polyostotic disease, maximum diameter, proportion of bone involved, expansile remodeling, and T2 homogeneity. The presence or absence of GGA on radiography or CT was determined in consensus. Inter-reader agreement was evaluated for milk cloud appearance using Cohen's kappa, and associations between milk cloud appearance and other imaging parameters were tested using Spearman's rho. RESULTS: Among the 37 histologically proven FD lesions, GGA was identified in 70% of the lesions, while milk cloud appearance was found in 82% of the lesions. Inter-reader agreement for milk cloud appearance on MR imaging was good to excellent (κ 0.65, 0.82, and 0.8). A significant correlation was found between milk cloud appearance and GGA (ρ = 0.31, p < 0.001). CONCLUSION: Milk cloud appearance is a characteristic sign of FD on contrast-enhanced T1-weighted MR images. Recognition of this feature may be helpful when radiographs are equivocal or unremarkable or when MR imaging is performed as the primary imaging modality in cases of FD. KEY POINTS: • Fibrous dysplasia displays a characteristic feature on contrast-enhanced T1-weighted MR imaging: milk cloud appearance. • Milk cloud appearance correlates well with the radiographic or CT finding of ground-glass appearance. • Recognition of milk cloud appearance on contrast-enhanced MR imaging may be helpful when radiographs are equivocal or unremarkable or when MR imaging is performed as the primary imaging modality in cases of fibrous dysplasia.

Cystic bone tumors of the foot and ankle.

Bone tumors are relatively rare in the foot and ankle region. Many of them present as cystic lesions on plain films. Due to the relative rarity of these lesions and the complex anatomy of the foot and ankle region, identification of such lesions is often delayed or they get misdiagnosed and mismanaged. This review discusses the most common cystic tumors of the foot and ankle including their radiographic features and principles of management.

Locally Aggressive Fibrous Dysplasia Mimicking Malign Calvarial Lesion.

Fibrous dysplasia is an unusual benign bone tumor. It is divided into 3 groups as monostotic, polyostotic, and craniofacial form. The authors reported an unusual patient with fibrous dysplasia with an aggressive radiologic appearance.

Successful Implant Placement in a Case of Florid Cemento-Osseous Dysplasia: A Case Report and Literature Review.

Florid cemento-osseus dysplasia (FCOD) has been described as a reactive process in which normal bone is replaced by fibrous connective tissues and cementum-like materials. Radiographically it appears as dense, lobulated masses, often occurring bilaterally with symmetric involvement. In this case report, a successful implant placement has been reported in a 62-year-old Caucasian woman with a chief complaint of mandibular partial edentulous. Radiographic images showed the bilateral radiopaque lesions in edentulous regions of mandible, and mandibular anterior teeth alike. All mandibular teeth were vital and no root resorption was detected. The findings of X-ray images were attributable to FCOD. A highly conservative step-by-step 2-stage implant surgery was performed. After 6 months the implants loaded with fixed prosthesis. 2, 4, 6, 12, and 18 months after the surgery radiographic images were taken, which revealed an optimal functional rehabilitation and complete integration of implants. This report confirms that treating the edentulous area near the FCOD lesions could be planned, if conservative step- by-step implant placement been considered. To the best of our knowledge, a case of FCOD with successful implant placement has not been reported previously. More studies in more patients are needed to confirm results of such a therapeutic modality.

[Thoracic Outlet Syndrome Caused by Fibrous Dysplasia of the First Rib]. / Syndrom horní hrudní apertury zpusobený fibrózní dysplazií prvního zebra.

The purpose of the case report is to present the case of a 42-year-old woman with thoracic outlet syndrome caused by fibrous dysplasia of the first rib treated by surgical therapy through cervicothoracic approach by Grunenwald with complete vascular and partial brachial plexus preparation. Key words:thoracic outlet syndrome, fibrous dysplasia, cervicothoracic approach.

Diagnosis and management of benign fibro-osseous lesions of the jaws: a current review for the dental clinician.

Benign fibro-osseous lesions of the maxillofacial skeleton constitute a heterogeneous group of disorders that includes developmental, reactive (dysplastic) and neoplastic lesions. Although their classification has been reviewed multiple times in the past, the most common benign fibro-osseous lesions are fibrous dysplasia, osseous dysplasia and ossifying fibroma. For the dental clinician, the challenges involve diagnosis and treatment (or lack thereof). A careful correlation of all clinical, radiologic and microscopic features is essential to establish a proper diagnosis and a clear treatment plan. This article aimed to review the clinical, radiologic and histopathologic characteristics of benign fibro-osseous lesions of the jaws, with emphasis on their differential diagnoses. With a deeper understanding of benign fibro-osseous lesions, clinicians will be better prepared to manage these lesions in their practice.

Fibrous dysplasia of bone: craniofacial and dental implications.

Fibrous dysplasia (FD) is a rare bone disease caused by postzygotic somatic activating mutations in the GNAS gene, which lead to constitutive activation of adenylyl cyclase and elevated levels of cyclic AMP, which act on downstream signaling pathways and cause normal bone to be replaced with fibrous tissue and abnormal (woven) bone. The bone disease may occur in one bone (monostotic), multiple bones (polyostotic), or in combination with hyperfunctioning endocrinopathies and hyperpigmented skin lesions (in the setting of McCune-Albright Syndrome). FD is common in the craniofacial skeleton, causing significant dysmorphic features, bone pain, and dental anomalies. This review summarizes the pathophysiology, clinical findings, and treatment of FD, with an emphasis on the craniofacial and oral manifestations of the disease.

Can Differences in Vascularity Serve as a Diagnostic Aid in Fibro-Osseous Lesions of the Jaws?

PURPOSE: Different lesions in the fibro-osseous group share microscopic features; thus, establishing a definitive diagnosis based on microscopic features alone can be a challenge. There is a need for additional microscopic tools to aid in differentiating these lesions. This study compared parameters related to vascularity among 3 lesions in the fibro-osseous group: fibrous dysplasia (FD), central ossifying fibroma (COF), and cemento-osseous dysplasia (COD). MATERIALS AND METHODS: This study was a cross-sectional analysis of biopsied lesions retrieved from 3 medical centers over a 14-year period. The primary predictor variables were the vascularity parameters (number, perimeter, and area). The outcome variables were diagnoses of FD, COF, and COD. Diagnosis was based on clinical, microscopic, and radiologic correlations. From each histopathologic slide, 5 representative fields were captured with a computerized digital camera. The number of blood vessels was counted, and the surface area and vascular perimeter were measured by tracing the perimeter of each vessel. Data were statistically analyzed using analysis of variance with logarithmic transformation and a Tukey adjustment. RESULTS: Sixty-six cases were included in the study (26 in FD group, 26 in COF group, and 14 in COD group). The mean number of vessels showed only a tendency to be larger in the FD group compared with the COF and COD groups (5.4 ± 2.6, 3.7 ± 2.3, and 3.6 ± 1.7, respectively), but the results did not reach the threshold for significance. The mean vascular perimeter was 1,385.8 ± 859.2 pixels in the FD group and 742.6 ± 661.8 in COF group after logarithmic transformation (P = .012). The perimeter in the COD group was smaller (941.1 ± 502) compared with that in the FD group, but the difference did not reach the threshold for significance. The mean area was 25,061 ± 24,875.6 in the FD group and 11,773.8 ± 21,734.4 in the COF group after logarithmic transformation (P = .004). The perimeter in the COD group was smaller (13,011.1 ± 8,338.3) compared with the FD group, but the difference did not reach the threshold for significance. CONCLUSION: The vascular content of the FD group was markedly higher than of the COF group. These vascular changes can aid in differentiating these lesions microscopically.

[Benign tumours and tumour-like lesions of the bone : General treatment principles]. / Benigne Tumoren und tumorähnliche Läsionen des Knochens : Allgemeine Behandlungsprinzipien.

BACKGROUND: Benign bone lesions are much more common than malignant lesions. Some benign bone tumors have a characteristic and typical radiographic appearance, while others are more challenging. Therapy of benign bone tumors differs greatly. While the majority of benign bone tumors do not require surgical therapy, other specific lesions, e. g. aneurysmal bone cysts or giant cell tumors (GCT) of the bone require surgery due to their locally aggressive behavior. DIAGNOSTICS: The major challenge for the radiologist and/or pathologist is the differentiation between a benign and low-grade malignant lesion (e. g. enchondroma versus low-grade chondrosarcoma) for which all available clinical and radiographic information is mandatory. Therefore, surgical therapy is rather more often performed than necessary due to uncertainty in many cases. THERAPY: Novel systemic therapies are available for fibrous dysplasia and GCT of the bone: Fibrous dysplasia can be treated with bisphosphonates, and GCT responds to denosumab. In fact, denosumab has been approved for the treatment of irresectable GCT. Osteoid osteoma is fairly easy to recognize and also to treat given the characteristic clinical presentation and rapid and effective response to local therapy (possible as percutaneous thermo-/laser ablation). In summary, several therapeutic options exist for benign bone tumors, and the choice depends upon the tendency/risk of local recurrence, the rate of surgical complications, options for defect reconstruction, postoperative functional deficits, and specific patient characteristics.

Differentiating early stage florid osseous dysplasia from periapical endodontic lesions: a radiological-based diagnostic algorithm.

BACKGROUND: Osseous dysplasia (OD) is the most common fibro-osseous lesion of the jaw affecting the periapical region. Early stages of OD can resemble periapical radiolucencies, thus mimicking the radiological aspects of an endodontic pathology. Such radiolucent lesions affecting previously decayed or treated teeth are even more complex to interpret. CASE PRESENTATION: The aim of this paper is to report a case-series of representative clinical situations describing the radiological features and illustrating the diagnostic workup of patients with florid osseous dysplasia (FOD). Emphasis is given to the endodontic implications of such periapical bone disease and the complexity of accurate diagnosis in the context of endodontic retreatment. We then propose a practical radiological-based diagnostic algorithm to assist the clinician in the diagnostic of OD periapical lesions. CONCLUSION: Periapical lesions may be confused with bone diseases such as osseous dysplasia, especially in the radiolucent initial stage. Knowledge of clinical features associated with a careful reading of cone beam CT images, such as fine opacities within the hypodense periapical lesion, may help determine the right diagnostic.

Associated aneurysmal bone cyst and cemento-osseous dysplasia: a case report and review of the literature.

The purpose of this case report is to describe a previously unpublished association between focal cemento-osseous dysplasia (FCOD) and an aneurysmal bone cyst (ABC) and review the literature with regard to associated benign fibro-osseous lesions and cysts. A 41-year-old woman without a history of trauma presented with asymptomatic swelling in the right side of the mandible. Radiographs of the region revealed a unilocular radiolucent area with radiopaque foci. After aspiration of the lesion was positive for serosanguineous fluid, complete excision of the lesion was performed. Microscopic examination revealed a hybrid ABC and FCOD. The 12-month follow-up showed significant bone repair and no signs of recurrence. A review of the English-language literature from 1980 to 2012 revealed 1 retrospective study, 4 case series, and 18 single-case reports on the topic of cemento-osseous dysplasias, fibro-osseous lesions, and aneurysmal bone cysts. Of 59 cases, none reported an association between an ABC and FCOD. Although fibro-osseous lesions do not require intervention, surgical excision is recommended when they are associated with cysts. This case, in which an ABC and FCOD were associated, reinforces the need for a careful diagnostic process in radiographically mixed lesions that respond positively to aspiration biopsy.

METAPHYSEAL CORTICAL DEFECT AND TUMOR-LIKE PROCESSES OF LONG BONES (A LITERATURE REVIEW AND OWN OBSERVATIONS).

Metaphyseal cortical defect (metaphyseal fibrous defect, cortical fibrous defect) of the long bones is a quite common variant of the bone structure's pathologic changes. The cortical defects and similar to their tumor-like processes (non-ossifying fibroma, benign fibrous histiocytoma etc.) are characterized by particular qualities of the clinical symptoms and radiologic signs. The aim of this article is to analyze a known literature data about cortical fibrous defects of long bones and similar to their tumor-like processes and present results of our own observations. We have observed 52 patients with different variants of bone lesions (metaphyseal cortical defect as the variant of pathological bone restructuring, local form of fibrous dysplasia, giant cell tumor, solitary done cyst, benign fibrous histiocytoma, non-ossifying fibroma). Complex clinical and radiologic differential diagnosis is based on a thorough study of the history findings, the degree of pain intensity and radiologic signs of pathological processes (location, sizes, number of destruction nodes as well as dynamics of changing). Revealed features along with histological verification undoubtedly influence on choice of medical tactics.

Headache Attributed to Fibrous Dysplasia of the Ethmoid Bone Mimicking Menstrual Migraine Without Aura.

The authors experienced a patient of fibrous dysplasia originating from the ethmoid bone which presented with severe headache with some features suggestive of menstrual migraine without aura. Fibrous dysplasia originating from the ethmoid bone is a rare disease entity, but may cause severe headache that can be misdiagnosed as "menstrual migraine" because of similar symptoms in female patients. Because the primary objective of surgery is symptomatic relief, conservative transnasal endoscopic approach may be considered an alternative to more invasive external surgical techniques in carefully selected patients, especially originating from the nasal cavity and paranasal sinuses.