A case of isolated craniofacial fibrous dysplasia – Radiologist's perspective

Fibrous dysplasia is a disease characterized by replacement of bone by fibro osseous tissue. FD has four different disease patterns. They are monostotic, polyostotic and McCune–Albright syndrome. Craniofacial pattern of disease occurs in 10–25% of patients with monostotic form and in 50% with polyostotic form. It also occurs as isolated craniofacial form. In isolated variety no extracranial lesions are present. Radiographic diagnosis plays an important role in diagnosis, classification and assessing prognosis of fibrous dysplasia. In this paper we report a case of isolated craniofacial type of fibrous dysplasia in a young female patient involving the maxilla and skull bones with a complete radiographic CT assessment of the extent of the lesion. Temporal bone involvement and bilateral lesion in certain cranial bones are the rare findings noted in this case.     

Clinical, microscopic and imaging findings associated to McCune-Albright syndrome: report of two cases

McCune-Albright syndrome is characterized by the triad café-au-lait cutaneous spots, polyostotic fibrous dysplasia and endocrinopathies. This article presents two cases of McCune-Albright syndrome in a middle-aged woman and a young girl. Both patients presented café-au-lait spots on the face and other parts of the body and expansion of the mandible with radiopaque-radiolucent areas with ground-glass radiographic appearance, and were diagnosed as having fibrous dysplasia and endocrine disorders. The patient of Case 1 had fibrous dysplasia on the upper and lower limbs, thorax, face and cranium, early puberty, hyperglycemia, hyperthyroidism and high serum alkaline phosphatase levels. The patient of Case 2 presented lesions on the upper limbs and evident endocrine disorders. In both cases presented in this article, the initial exam was made because of the mandibular lesion. However, a diagnosis of fibrous dysplasia must lead to investigation of the involvement of other bones, characterizing polyostotic fibrous dysplasia, which is manifested in a number of diseases. An accurate differential diagnosis is mandatory to determine the best treatment approach for each case.     

Craniofacial Fibrous Dysplasia in an Elderly Patient: A Case Report with a Review of Literature

Fibrous dysplasia is a benign fibro-osseous disorder, characterized by fibrous connective tissue containing abnormal bone which replaces normal bone. It represents 2 to 5% of all bone tumors and 7% of all benign tumors. Most commonly it affects younger age groups, with a higher prevalence in the maxilla than the mandible. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Fibrous dysplasia can involve multiple bones (polyostotic) or a single bone (monostotic). The lesions of fibrous dysplasia can be surgically recontoured for esthetic or functional purposes once the growth ceases. Here we report a case of craniofacial fibrous dysplasia in an 83-year-old elderly male patient with emphasis on radiographic features.     

Investigation of the GSalpha gene in the diagnosis of fibrous dysplasia

Fibrous dysplasia is a benign fibro-osseous disease of bone and its etiology has been previously established. Activating mutations in the gene that encodes the alpha subunit of stimulatory G protein (G(S)alpha) has been described in monostotic and polyostotic fibrous dysplasia and in the McCune-Albright syndrome. The present report describes a patient with monostotic fibrous dysplasia which diagnosis was confirmed by sequencing of the G(S)alpha gene, demonstrating a heterozygous missense mutation on codon 201 (201C --> T). Due to the high prevalence of G(S)alpha gene mutations in fibrous dysplasia in contrast to other benign and malignant fibrous-osseous lesions, mutational analysis are an additional and helpful parameter for the diagnosis of fibrous dysplasia in selected cases.     

Fibro‐osseous lesions of the jaws: an analysis of 122 cases in Thailand

J Oral Pathol Med (2010) 39 : 703–708 Background: There are no previously published reports on fibro‐osseous jaw lesions in Thailand. The aims of this study were to determine the relative frequencies and the clinicopathologic features of these lesions in Thailand, and to compare these data with information available in the literature. Methods: A total of 122 cases of fibro‐osseous lesions of the jaws, out of a total of 4808 biopsy specimens, were collected from the files of the Department of Oral Pathology, Faculty of Dentistry, Mahidol University, Bangkok, Thailand, during a 34‐year period from 1973 to 2006. Clinical data and histopathologic diagnoses were reviewed and analyzed. Results: The most common was ossifying fibroma (50.8%), followed by fibrous dysplasia (42.6%). Ossifying fibroma most frequently occurred in the third and fourth decades of life (61.3%) and mostly involved the posterior region of the mandible (41.9%). Fibrous dysplasia was mostly seen in the second decade of life (40.4%). The maxilla was involved far more often than the mandible (53.8% and 6.2%, respectively), most common in the posterior region of the maxilla (28.8%). Both lesions presented as painless swellings (62.9% and 90.4%, respectively). Radiographically, ossifying fibroma mostly was mixed radiolucent–radiopacity (45.2%). Fibrous dysplasia mostly appeared as a radiopaque lesion (34.6%). Conclusions: The relative frequency of osseous dysplasia is underestimated because most lesions are not treated and the patients are kept under long‐term follow‐up without biopsy. The clinicopathologic features of ossifying fibroma and fibrous dysplasia in Thailand are identical to those in the literature.     

Monostotic fibrous dysplasia of the mandible

ABSTRACT: Fibrous dysplasia is a benign fibro-osseous disease that affects 1 or more bones. Deformities leading to aesthetic and functional disorders are observed in almost all cases. Plastic surgery is often recommended when the jaws are involved. Monostotic fibrous dysplasia of the mandible is an unusual manifestation of the disease that is usually benign, occurs in young individuals, and is managed by conservative curettage or debridement, such as surgical sculpting. The authors report a case of a 15-year-old patient with a large monostotic fibrous dysplasia located in the right mandible, which was treated by contouring bone. The lesion did not recur on follow-up for 4 years after the surgical procedure.     

Fibrous dysplasia]

Fibrous dysplasia of bone may occur also in the facial skeleton. Main locations are the lateral midface and the mandible. The foci, which are sharply circumscribed in most cases, produce tumour-simulating deformities of single of several facial bones and, in part, disorders of the articulation are bulbar displacements. In contrast to Paget's disease, fibrous dysplasia is a disorder of the younger age groups. Apart from bony changes, Albright's syndrome (which occurs in women only) comprises also irregular, circumscribed café-au-lait patches and signs of somatic and sexual precocity.     

Central giant cell granuloma and fibrous dysplasia occurring in the same jaw

Fibrous dysplasia (FD) is a developmental tumor like condition that is characterized by replacement of normal bone by an excessive proliferation of cellular fibrous connective tissue intermixed with irregular bony trabeculae. Central giant cell granuloma (CGCG) is described as a benign lesion affecting the mandible and maxilla that consists of a massive fibrohistiocytic proliferation with numerous heavily hemosiderin-laden multinucleate-giant cells. A 20 year old woman present at the Department of Oral Medicine, Dentistry School, Tehran University of Medical Sciences with a slowly growing non painful swelling of the right mandible for one year. Our differential diagnosis was osteoma, osteoid osteoma and Fd. The histological feature reveal Central giant cell granuloma fibrous dysplasia. Central giant cell granuloma and fibrous dysplasia occurring in the same jaw is rarely reported in the literatures.     

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.     

Craniomaxillofacial fibrous dysplasia

Fibrous dysplasia is a nonneoplastic developmental disease of osseous tissue. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. In this series of 16 patients with fibrous dysplasia of the craniomaxillofacial bones, the disease was generally monostotic and most commonly maxillary in location. Two patients demonstrated typical symptoms of the McCune Albright syndrome. Marked deformity or functional disturbances were the major indications for treatment. Total excision of the involved bone was the most successful form of treatment but produced the greatest functional and cosmetic deficits and long-term postoperative complications. A conservative therapeutic approach with a modest reduction in the bulk of these lesions may be sufficient to relieve signs and symptoms effectively. Periodic follow-up is indicated to detect recurrences or malignant changes in the early stages.     

Bone scintigraphy of benign jaw lesions.

Bone scintigraphy has been performed two or more times within a year on 12 patients: four with cherubism, four with fibrous dysplasia, and four with osteomyelitis of the mandible. In cherubism abnormal scintigrams were found only in the regressive period with new bone formation, while in fibrous dysplasia, abnormal scintigrams were found in all cases, even in patients where the disease was expected to be stationary. In osteomyelitis the changes in the scintigrams corresponded to clinical and radiological changes. Bone scintigraphy may be used as a differential diagnostic aid in doubtful cases of cherubism and fibrous dysplasia, or to reveal any lesions of other bones. The method cannot be used for differentiating between fibrous dysplasia and osteomyelitis, but bone scintigraphy may be useful in the early diagnosis or the late control of osteomyelitis in the jaws.     

Fibrous dysplasia of the mandible and sphenoid bones: report of case.

A case of fibrous dysplasia of the mandible has been presented in which further diagnostic procedures showed the presence of a second and potentially more dangerous lesion. The literature was reviewed with the purpose of bringing attention to the still confused state of fibro-osseous lesions of the jaws and skeleton. The relationship of the ossifying fibroma and fibrous dysplasia was explored in relative depth. Fibrous dysplasia is a usually benign fibro-osseous abnormality of bone that may occur as monostotic, polyostotic, or craniofacial disease or as a part of a syndrome. Its nosology is confusing and its etiology is still unknown.     

Differential diagnosis of fibro-osseous jaw lesions. A histological investigation on 30 cases

A series of 30 fibro-osseous jaw lesions was evaluated for histological parameters that enable appropriate diagnostic classification. Special emphasis was laid upon the histomorphology of the lesion-jawbone interface, blending of lesional bone with adjacent jawbone being employed as the decisive factor in distinguishing between fibrous dysplasia and other fibro-osseous jaw lesions. Using this feature as a discriminative tool, other histological aspects that were useful in differential diagnosis could be identified. Fibrous dysplasia (n = 11) shows a rather uniform appearance with a constant ratio bone: fibrous tissue throughout the entire lesion; acellular mineralized particles are virtually absent. Juvenile ossifying fibroma (n = 3) is characterized by a highly cellular fibroblastic stroma and garland-like strands of cellular osteoid. Ossifying fibroma (n = 12) shows a high variability in stromal cellularity and types of mineralized material. Localized periapical fibro-osseous cemental lesions (n = 4) are histologically almost similar to ossifying fibroma although more heavily mineralized. It is concluded that there is full agreement between histology and radiology in indicating whether a fibro-osseous jaw lesion is demarcated or blends into its surroundings. Moreover, an appropriate diagnosis can be reliably made on histological grounds.     

骨纤维异常增殖症发病机制的研究进展

骨纤维异常增殖症是一种口腔颌面部较常见的纤维骨病变,近年来对其发病机制研究较多。本文就激活型G蛋白α亚基基因(Gsα基因)突变在骨纤维异常增殖症发病中的作用和骨纤维异常增殖症患者的骨病变、内分泌功能亢进及皮肤色素斑的具体机制作一综述。     

Maxillofacial fibrous dysplasia.

Fibrous dysplasia is a non- neoplastic hamartomatous developmental fibro osseous lesion of bone. This paper provides a brief overview of fibrous dysplasia in a historic perspective and highlights the controversies in fibrous dysplasia seen in the cranio- maxillofacial lesions. A case report of a young woman is presented who was diagnosed as having maxillofacial fibrous dysplasia, thereby making an attempt to use this term in cases with relatively limited facial bone disease.     

Possible relationship of primary hyperparathyroidism and fibrous dysplasia: report of case.

This report has considered the possibility that the described patient had a maxillary and possibly a mandibular fibrous dysplasia concomitant with a parathyroid abnormality. It has attempted to arouse the diagnostician's suspicion of possible interrelations of fibrous dysplasia and endocrine abnormalities, and to strengthen the hypothesis of others that association of fibrous dysplasia and hyperparathyroidism is not coincidental. Clinical, radiographic, and laboratory examinations more than a year postoperatively further substantiate our hypothesis that the patient had a facial fibrous dysplasia concomitant with primary hyperparathyroidism. The maxilla and mandible continued to enlarge clinically. Systemic manifestations of hyperparathyroidism had resolved. Calcium phosphorus, and parathyroid hormone levels returned to normal limits. Radiographically, there had been remodeling and recalcification of all involved bones except the maxilla and mandible which continued to expand. A possible explanation is that the maxillofacial lesions represent the polyostotic fibrous dysplasia component of the Albright syndrome. The endocrine abnormality could be manifested by the hyperparathyroidism. The third component of Albright syndrome, café au lait lesions, has not been identified. The potential interrelation of fibrous dysplasia with endocrine abnormalities is obviously important from a diagnostic and therapeutic standpoint. If there is more than a coincidental relationship-hereditary, hormonal, neurological, developmental, or any as-yet-unknown factor-only further research and studies will confirm or disprove it.     

Secondary desmoplastic fibroma-like tissue changes in mandibular fibrous dysplasia: clinicopathological and molecular study of a case

Fibrous dysplasia may show locally aggressive behaviour reflecting secondary intralesional changes, extension to soft tissue, or malignant transformation. We report the case of a patient with polyostotic fibrous dysplasia who had a giant mandibular lesion consisting of histologically typical, genotypically-confirmed, fibrous dysplasia merged with a fibrotic and hypocellular desmoplastic fibroma-like tissue in which the same Gsα-R201H mutation was detected. The occurrence of the same mutation in both the fibrous dysplasia and areas of desmoplastic fibroma suggests that the fibroma-like tissue reflects an unusual secondary tissue change within an otherwise typical fibrous dysplasia. To the best of our knowledge, only four cases of fibrous dysplasia with desmoplastic fibroma-like tissue changes have been reported.     

Cleidocranial dysplasia: report of six clinical cases

Cleidocranial dysplasia (CCD) is an autosomal‐dominant disorder that occurs due to mutations in the Cbfa 1 gene, also called Runx 2, located on the short arm of chromosome 6, affecting osteoblast skeletal‐specific bones that have intramembranous ossification. This condition is characterized by hypoplastic clavicles, short stature, and great clinical significance in the stomatognathic complex, with involvement of facial bones, changes in the eruption patterns, including multiple supernumerary and retained teeth. This study reports six subjects of the same family with CCD identified in the Dentistry Clinic of Oral Diagnosis Department, Universidade Paulista, Campus Sorocaba, Sao Paulo State, Brazil. All cases had clinical and radiographic aspects of this important condition, such as short stature, hypertelorism, severe mobility of the shoulders, and supernumerary and retained teeth. Due to the rare incidence and phenotypic manifestations, CCD can be easily misdiagnosed. The oral commitments are one of the main (functional and aesthetic) causes of complaints in these subjects; and a dentist must establish the diagnosis as early as possible, followed by behaviors and practices that can minimize harmful manifestations of the syndrome and improve health associated with oral and multidisciplinary integration offering improvements in quality of life of these subjects.