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Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update.

ABSTRACT: Fibrous dysplasia (FD) is a fibroosseous lesion of the osseous structures of the body. It is not a commonly reported lesion yet it is considered as an important lesion which can affect the maxillofacial region as well. As a result, it can cause deformity of the jaw bones which can further lead to severe facial asymmetry. Craniofacial fibrous dysplasia (CFD) is one of the subtypes of FD that can affect the bones of the craniofacial complex, including the mandible and maxilla. It can also present as facial asymmetry and can be investigated with the help of Maxillofacial Radiology and Imaging. The radiographic findings may vary according to the extent and degree of the disease. Although conventional radiographs provide a good clue regarding the lesion, advanced maxillofacial imaging is capable of providing detailed extent of the disease. Furthermore the classification of CFD is not very clear in the literature.This particular paper attempts to document and report the CT appearance of CFD with an attempt to propose a better classification system for the same. Four different patients are reported which presented with FD with involvement of bones of craniofacial region. Working diagnosis of CFD was made with the help of clinical features as well as with radiographic assessment. Advanced imaging included CT scan of the lesions. The article highlights the importance of computed tomography in diagnosis as well as assessment of extent of the disease.It can be concluded that the Dental professionals must be aware regarding the different radiographic appearances of CFD. Advanced imaging modality like CT can provide with exact diagnosis as well as extent of the lesions like FD. Further collaboration of researchers is required to incorporate this proposed change in classification of CFD.

SUBMITTER: Gupta D

PROVIDER: S-EPMC5543691 | biostudies-other | 2017

REPOSITORIES: biostudies-other

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Project description:BackgroundThe co-existence of meningioma and craniofacial fibrous dysplasia (CFD) is rare. Due to the similar radiological characteristics, it is challenging to differentiate such co-existence from solitary hyperostotic meningioma resulting in a dilemma of prompt diagnosis and appropriate intervention.MethodWe conducted a retrospective review of the data from 21 patients with concomitant meningioma and CFD who were treated at Beijing Tiantan Hospital from 2003 to 2021. We summarized their clinicopathological features and performed a comprehensive literature review. Additionally, we tested the characteristic pathogenic variants in exon 8 and 9 of GNAS gene and the expression of corresponding α-subunit of the stimulatory G protein (Gαs) related to CFD to explore the potential interactions between these two diseases.ResultsThe cohort comprised 4 men and 17 women (mean age, 45.14 years). CFD most commonly involved the sphenoid bone (n = 10) and meningiomas were predominantly located at the skull base (n = 12). Surgical treatment was performed in 4 CFD lesions and 14 meningiomas. Simpson grade I-II resection was achieved in 12 out of the 14 resected meningiomas and almost all of them were classified as WHO I grade (n = 13). The mean follow-up duration was 56.89 months and recurrence was noticed in 2 cases. Genetic study was conducted in 7 tumor specimens and immunohistochemistry was accomplished in 8 samples showing that though GNAS variant was not detected, Gαs protein were positively expressed in different degrees.ConclusionsWe presented an uncommon case series of co-diagnosed meningioma and CFD and provided a detailed description of its clinicopathological features, treatment strategy and prognosis. Although a definite causative relationship had not been established, possible genetic or environmental interplay between these two diseases could not be excluded. It was challenging to initiate prompt diagnosis and appropriate treatment for concomitant meningioma and CFD because of its similar radiological manifestations to meningioma with reactive hyperostosis. Personalized and multi-disciplinary management strategies should be adopted for the co-existence of meningioma and CFD.

Project description:BackgroundCraniopharyngioma (CP) and cranial fibrous dysplasia (CFD) are rare embryonic benign cranial diseases that most commonly present during childhood or adolescence. The coexistence of CP and CFD is extremely rare and has not yet been reported.MethodsWe retrospectively reviewed the data of five patients with concomitant CP and CFD treated at Beijing Tiantan Hospital from January 2003 to January 2021 and summarized their clinicopathological features, treatment modalities, and outcomes. We also performed a comprehensive literature review, tested the patients for characteristic GNAS gene mutations related to CFD, and tested the CP specimens for corresponding Gsα protein to explore the potential connection leading to the coexistence of CP and CFD.ResultsThe cohort comprised four men and one woman (median age, 39 years). The symptoms mainly included headache, dizziness, fatigue, polyuria/polydipsia, hypogonadism, and blurred vision. CFD most commonly involved the sphenoid bone (n = 4). Four patients underwent surgery to remove the CP (one trans-sphenoidal and three transcranial resections); complete and subtotal resection were achieved in two patients, respectively. The tumor subtype was adamantinomatous in three patients and unknown in one. The common postoperative complications were panhypopituitarism, diabetes insipidus, and hypothyroidism. The mean follow-up duration was 57.2 months. Two patients required postoperative hormone replacement therapy. Three patients underwent genetic study of the tumor specimens; GNAS mutations were not detected, but these patients were positive for Gsα protein.ConclusionsAlthough a definite causative relationship has not been proved, the coexistence of CP and CFD means that potential interplay or an atypical fibrous dysplasia course as uncommon manifestations of CP cannot be excluded. It is more challenging to initiate prompt diagnosis and appropriate treatment for concomitant CP and CFD than for solitary CP because of skull base deformations. Current management strategies are aimed at surgical treating the CP and regularly monitoring the CFD.

Project description:RationaleFibrous dysplasia is a rare disorder that results in fractures, pain, and disability and can affect any bone in the body. The treatment of symptomatic fibrous dysplasia is determined based on the affected bones. Although some lesions are often too extensive for surgical procedures, there are currently no effective or recommended medical treatments available for them.Patient concernsA 27-year-old woman developed right buttock pain and was diagnosed with a bone tumor in the right ilium. Clinical images revealed an expansive osteolytic lesion with thinning of the cortex and cystic change from the acetabulum to the sacroiliac joint.DiagnosisAn incisional biopsy was performed, and the lesion was diagnosed as cystic fibrous dysplasia. Occasional osteoclast-like giant cells and woven bone were observed. The patient had no evidence of polyostotic lesions or findings of McCune-Albright syndrome. Biochemical blood test results showed no obvious abnormal values, except for an increase in serum tartrate-resistant acid phosphatase 5b to 459 mU/dL.InterventionsSince surgical treatment appeared to be challenging, she was treated with denosumab with decreased dose-intensity schedules.OutcomesThe administration of denosumab caused osteosclerosis within the lesion, resulting in the elimination of bone pain. The patient received denosumab treatment for 18 months. Pain relief and lesion radiodensity were maintained for 9 months after denosumab discontinuation. The serum level of tartrate-resistant acid phosphatase 5b was measured to monitor the response to denosumab, which was suppressed during denosumab treatment.LessonsWe described successful denosumab treatment in a patient with cystic fibrous dysplasia (FD) who maintained efficacy for 9 months after treatment. Although the use of denosumab in fibrous dysplasia is currently off-label, our experience with this patient supports the potential of denosumab therapy for patients for whom surgical treatment is challenging.

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Computed Tomography in Craniofacial Fibrous Dysplasia: A Case Series with Review of Literature and Classification Update.

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