Craniofacial fibrous dysplasia

G protein-coupled receptors (GPCRs) mediate a wide spectrum of physiological functions, including the development, remodeling, and repair of the skeleton. Fibrous dysplasia (FD) of the bone is characterized by fibrotic, expansile bone lesions caused by activating mutations in GNAS. There are no effective therapies for FD. We previously showed that ColI(2.3)+ /Rs1+ mice, in which Gs -GPCR signaling was hyper-activated in osteoblastic cell lineages using an engineered receptor strategy, developed a fibrotic bone phenotype with trabecularization that could be reversed by normalizing Gs -GPCR signaling, suggesting that targeting the Gs -GPCR or components of the downstream signaling pathway could serve as a promising therapeutic strategy for FD...

INTRODUCTION: Fibrous dysplasia is a disorder in which normal bone is gradually replaced by immature fibro-osseous tissue, with an incidence of less than 7% of all benign bone tumors. The management of this disease is a challenge for plastic surgeons and neurosurgeons. GOAL: To describe the diagnostic, therapeutic, and outcome approach of patients with craniofacial fibrous dysplasia seen at the Plastic Surgery Service of the Hospital San José in Bogotá, Colombia...

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...

BACKGROUND: This study aimed to identify risk factors for postoperative lesion regrowth and to assess functional outcomes in craniofacial fibrous dysplasia, using a three-dimensional computed tomographic volumetric analysis. METHODS: A retrospective analysis was conducted on 47 patients with craniofacial fibrous dysplasia who were treated from July 2005 to December 2020. Patients were treated with either conservative shaving or radical excision followed by reconstruction...

BACKGROUND: Fibrous dysplasia (FD) is a benign developmental disorder of the bone that causes normal skeletal tissue to be replaced by excess fibrous tissue and poorly differentiated osteoblasts. Intraosseous xanthomas are benign intraosseous tumor growths characterized microscopically by the presence of lipid-laden foamy histiocytes, often with cortical expansion or disruption. Although FD commonly occurs in craniofacial bones, primary intraosseous xanthomas of the skull or facial skeleton are extremely rare...

PURPOSE: We report a case of fibrous dysplasia (FD) with aneurysmal bone cyst (ABC)-like change in a child with orbital involvement, review the related cases, and discuss clinical features, therapy, and prognosis of this disease. CASE PRESENTATION: A 10-year-old girl had right proptosis (degree of exophthalmos: OD 16 mm, OS 13 mm) and limited vision (visual acuity: OD 1.0, OS 0.8) without trauma. Preoperative CT showed a 5.0*4.3 cm right-sided crania-orbital communicating tumor...

BACKGROUND: FD is relatively rare in the craniofacial region, accounting for only 20% of all cases. Currently, two general subtypes of FD are recognized: monostotic and polyostotic. The monostotic form is more frequent, accounting for 75% to 80% of fibrous dysplasia cases. CASE DESCRIPTION: An 18-year-old male presented with the complaint of bony-hard swelling over the forehead for 8 years. Radiology showed an expansile osseous lesion involving frontal bones. The patient underwent bi-frontal craniectomy with gross total resection of tumour mass with titanium mesh cranioplasty...

BACKGROUND: Reducing delayed diagnosis is a significant healthcare priority for individuals with rare diseases. Fibrous Dysplasia/ McCune Albright Syndrome (FD/MAS) is a rare bone disease caused by somatic activation mutations of NASA. FD/MAS has a broad clinical phenotype reflecting variable involvement of bone, endocrine and other tissues, distribution and severity. The variable phenotype is likely to prolong the diagnostic journey for patients further. AIM: To describe the time from symptom onset to final diagnosis in individuals living with FDMAS...

PURPOSE: The purpose of this study is to describe a case of unilateral keratoconus associated with ipsilateral craniofacial fibrous dysplasia and its subsequent management with corneal collagen cross-linking. OBSERVATIONS: This is an interventional case report of a 16-year-old male with a history of polyostotic fibrous dysplasia of the left frontal bone and orbital roof status post partial resection six years prior who presented to the pediatric ophthalmology clinic with progressively blurry vision in the left eye...

The authors report an unusual case of monostotic fibrous dysplasia involving the middle turbinate. Only four cases of fibrous dysplasia (FD) involving the middle turbinate had previously been documented globally, all of which entailed severe presentation and were treated surgically. We report the first case of asymptomatic monostotic FD of the middle turbinate in the Middle East, followed over a span of 10 years.  Fibro-osseous lesions are rare, benign tumors of the sinonasal and orbital regions...

BACKGROUND: The 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. METHOD: We 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...

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...

Fibrous dysplasia is a developmental anomaly that affects bone maturation and remodeling, generating replacement of medullary and cortical bone by a disorganized and immature fibro-osseous matrix, which makes the sufferer susceptible to bone pain, skeletal deformities, and pathological fractures. This is a condition that, when associated with cutaneous hyperpigmentation and endocrinological disorders, forms the classic triad of McCune-Albright syndrome, a rare multisystemic pathology formed by postzygotic somatic mutations of the GNAS gene...

OBJECTIVE: This study presents the clinical characteristics, imaging manifestations, and surgical experience in 38 patients diagnosed with craniofacial fibrous dysplasia in fronto-orbital region (foFD). METHODS: We retrospectively analyzed the clinical data from 38 patients who had surgery for foFD. The surgical procedure typically involved extensive tumor removal, followed by immediate reconstruction of the frontal bone and orbit using synthetic materials. Additionally, 9 patients underwent simultaneous microscopic decompression of the optic canal...

BACKGROUND: To report the surgical treatment of craniofacial fibrous dysplasia (CFD) with TP53 gene mutation. METHODS: The patient was diagnosed with CFD by surgery at the age of 14 years. At the age of 35 years, the tumor recurred, and the patient took active treatment. The tumor was resected 4 times by neuroendoscopy due to recurrence in a short period. Meanwhile, genetic tests were performed on the patient. The patient's postoperative pathology indicated leiomyosarcoma and genetic testing indicated TP53 gene mutation...

Fibrous dysplasia (FD) is a fibro-osseous disorder that manifests with distinct or overlapping clinical patterns. FD may be monostotic or polyostotic and commonly associated with syndromes such as McCune-Albright syndrome and Mazabraud syndrome. We report a case of polyostotic FD with bilateral involvement of craniofacial bones in a distinct pattern and propose this characteristic appearance as the 'eye mask sign' on 99m Tc-Methylene Diphosphonate (MDP) skeletal scintigraphy and SPECT/CT. Other unusual skeletal scintigraphic features noted in this case are also described (Figs...

A 25-year-old male was admitted to our institute complaining of caudal deviation of orbit. Surgery was performed through a coronal incision, a subtarsal incision, and a lynch incision. The periosteum of the orbital roof was raised, and the supraorbital wall was shaved cephalad in reference to the nonaffected side. Then the periosteum was incised from the inferior margin of the orbit to the medial and lateral palpebral ligaments, and the periosteum of the orbital floor was raised until the inferior orbital fissure...

The authors report an extremely rare case of a massive hyperostotic meningioma en plaque, which had characteristics of unique bony growth. A 34-year-old man presented with a palpable solid mass in the left cranial region that had gradually grown in size with a broad base on the calvarium for 8 years. Radiologically, the area involved by the mass ranged from the sphenoid bone to the frontal, parietal, temporal, and occipital bones. Three-dimensional CT revealed multiple growing spiculate features on the inner and outer cranial surface...

Fibrous dysplasia (FD) is a rare skeletal disorder characterized by abnormal fibro-osseous connective tissue replacing normal bone. Despite its benign behavior, craniofacial FD can cause morphological disfigurement, headache, and even blindness as a result of the produced mass effect. Surgical resection is recommended when the patient shows apparent clinical symptoms or aggravating facial asymmetry. Postoperative complications have been reported, such as hematoma, surgical site infection, abscess formation, resorption of the bone graft used for reconstruction, and recurrence...

BACKGROUND: McCune-Albright syndrome (MAS) is extremely rare clinically. We here report a case of MAS with severe symptoms that have not been reported previously. CASE SUMMARY: A 10-year-old boy attended our outpatient clinic due to craniofacial malformations found two years ago. He underwent temporal bone computed tomography and digital radiography photography. Based on a literature review combined with the patient's medical history and imaging examination findings, he was diagnosed with multiple fibrous dysplasia of bone...