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Craniofacial fibrous dysplasia

Chiara Di Pede, Sabrina Congedi, Sara Rossin, Antuan Divisic, Alesandra De Gregorio, Caterina Agosto, Igor Catalano, Alessandro Mazza, Leonardo Sartori, Stefano Masiero, Franca Benini
We describe a case of a paediatric patient affected by mandibular fibrous dysplasia (FD) with severe and chronic pain who was successfully treated with zoledronic acid (ZOL): a third-generation bisphosphonate. Further research is needed to assess its safety and efficacy as a treatment option for FD in the paediatric population.
2016: Case Reports in Pediatrics
B C J Majoor, N M Appelman-Dijkstra, M A J van de Sande, H M Kroon, N A T Hamdy, P D S Dijkstra
Fibrous dysplasia is a rare genetic bone disorder with a wide variation in clinical expression, ranging from asymptomatic patients to severely affected patients with extensive bone disease, pain, repetitive fractures and deformities and serious endocrinological symptoms (McCune-Albright syndrome). Here, we report on three different cases of fibrous dysplasia. First, a 46-year-old woman with a small solitary lesion in the proximal femur. Second, a 25-year-old man with polyostotic disease of the left leg who received both surgical and medical treatment...
2016: Nederlands Tijdschrift Voor Geneeskunde
Bas C J Majoor, Natasha M Appelman-Dijkstra, M Fiocco, Michiel A J van de Sande, P D Sander Dijkstra, Neveen A T Hamdy
INTRODUCTION: McCune-Albright syndrome (MAS) is a rare bone disorder characterized by fibrous dysplasia (FD), endocrinopathies and café-au-lait patches. FD patients have been shown to respond favourably to treatment with bisphosphonates, but data are scarce in the more severe polyostotic form (PFD), including MAS, and factors determining treatment outcome are not known, particularly in the long-term. METHODS: We evaluated the biochemical (bone turnover markers; BTMs) and clinical (pain reduction) outcome of bisphosphonate therapy in eleven patients with MAS and 30 patients with PFD: median duration of treatment 6 years (range 2-25)...
September 20, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Khalid Nasser Fadle, Ahmed Gaber Hassanein, Abdin K Kasim
INTRODUCTION: Fibrous dysplasia (FD) is a non-neoplastic developmental fibro-osseous disease. It represents 2.5% of all bone tumors and 5% to 7% of the benign bone tumors. Orbitocranial region is involved in about 20% of the patients. The main presentations are craniofacial deformity and headache. Loss of vision is the most devastating result of this disease. There is no medical treatment to cure or prevent FD. Radiation therapy is contraindicated. Surgery for the orbitocranial FD is often challenging because of the proximity of neurovascular and ocular structures...
September 9, 2016: Journal of Craniofacial Surgery
Ruichen Wang, Guizhen Li, Chunming Liu, Chiyu Jia, Yan Han
BACKGROUND: Contouring is a minimal invasive procedure to remove excess lesions and restore facial appearance of patients with craniofacial fibrous dysplasia; however, it is difficult to measure the amount of excess lesions. This study is to demonstrate the use of reduction template produced by three-dimensional printer in contouring procedure. METHODS: Computed tomography data were reconstructed into a three-dimensional model by Mimics software. The unaffected side was mirrored and superimposed on the affected side...
October 2016: Journal of Craniofacial Surgery
Andrea Burke, Michael T Collins, Alison M Boyce
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)...
August 5, 2016: Oral Diseases
Rodrigo Cárdenas-Perilla, Consuelo Santamaria, Juan Manuel Muñoz-Acosta
Juvenile psammomatoid ossifying fibroma is a rare bone-forming tumor seen in craniofacial bones, which affects mainly young patients. We report scintigraphic and SPECT/CT findings of 2 patients diagnosed with this disease. One patient presented with suspicion of fibrous dysplasia and the other with suspected malignancy in the setting of a rapidly growing mass. Both cases highlight the importance of recognizing this type of tumor in young patients with abnormal uptake in paranasal bones and sinuses within the range of potential differential diagnoses including sarcomas, fibrous dysplasia, and odontogenic tumors...
September 2016: Clinical Nuclear Medicine
Alison M Boyce, Andrea Burke, Carolee Cutler Peck, Craig R DuFresne, Janice S Lee, Michael T Collins
BACKGROUND: The mainstay of treatment for craniofacial fibrous dysplasia is surgical; however, optimal indications and techniques are poorly understood, particularly in polyostotic disease and McCune-Albright syndrome. This study investigated surgical indications and risk factors for recurrence in a large cohort. METHODS: One hundred thirty-three craniofacial fibrous dysplasia subjects in a natural history study were evaluated. Radiographic studies, operative reports, and clinical records were reviewed...
June 2016: Plastic and Reconstructive Surgery
Telmo Augusto Barba Belsuzarri, João Flavio Mattos Araujo, Carlos Alberto Morassi Melro, Maick Willen Fernandes Neves, Juliano Nery Navarro, Leandro Gomes Brito, Luis Otavio Carneiro Pontelli, Luis Gustavo de Abreu Mattos, Tiago Fernandes Gonçales, Wolnei Marques Zeviani
BACKGROUND: Fibrous dysplasia (FD) is a benign fibro-osseous lesion related to an abnormal bone development and replacement by fibrous tissue. FD has three clinical patterns namely monostotic, polyostotic, and the McCune-Albright syndrome (MAS). MAS is a rare genetic disorder (about 3% of all FD's) that comprises a triad of polyostotic FD, café-au-lait skin macules, and precocious puberty. MAS can involve the orbit region and cause stenosis in the optic canal, leading the patient to a progressive visual loss...
2016: Surgical Neurology International
A Couturier, O Aumaître, T Mom, L Gilain, M André
Fibrous dysplasia of bone is a benign, uncommon, sporadic, congenital skeletal disorder resulting in deformity. This disease arises from activating somatic mutation in GNAS which encodes the α subunit of the G stimulatory protein associated with proliferation of undifferentiated osteogenic cells resulting in marrow fibrosis, abnormal matrix production, and stimulation of osteoclastic resorption upon overproduction of IL-6 observed in dysplastic cells. Fibrous dysplasia may be monostotic or polyostotic. This mutation affecting many tissues, café au lait skin macules and endocrinopathies (precocious puberty, hyperthyroidism, growth hormone excess, Cushing syndrome) may be associated in McCune-Albright syndrome, but also myxoma in Mazabraud syndrome or phosphate diabetes...
March 23, 2016: La Revue de Médecine Interne
Nadav Nahumi, Michael R Shohet, Joshua B Bederson, Ebrahim Elahi
Fibrous dysplasia (FD) is a benign, pathological development of bone. Craniofacial bones are the most commonly involved and can potentially cause visual disturbance, proptosis, orbital dystopia, and facial deformity. This case involves a 13-year-old girl with significant proptosis (20 mm left, 17.5 mm right) and downward displacement of the left globe (1.5 mm) due to fibrous dysplasia. Reconstruction was performed with computed tomography-derived and 3D printed custom polyetheretherketone (PEEK) implantation...
November 2015: Journal of Craniofacial Surgery
Monika Seifert, Kamil H Nelke, Anna Noczyńska, Lidia Łysenko, Marzena Kubacka, Hanna Gerber
Various forms of bony deformations and dysplasias are often present in the facial skeleton. Bone defects can be either localized or general. Quite often they are not only present in the skull but also can be found in other parts of the skeleton. In many cases the presence and levels of specific bone markers should be measured in order to fully describe their activity and presence in the skeleton. Fibrous dysplasia (FD) is the most common one in the facial skeleton; however, other bone deformations regarding bone growth and activity can also be present...
2015: Postȩpy Higieny i Medycyny Doświadczalnej
Wang Ruichen, Liu Chunming, Jia Chiyu, Li Guizhen, Gao Quanwen, Wulan Hasi, Han Yan
OBJECTIVE: To investigate the quantitative analysis based on three-dimensional computed tomography (3D-CT) in contouring surgery of complex craniofacial fibrous dysplasia (FD). METHODS: 14 patients with craniofacial FD underwent 3D-CT scan. Axial images of patients with craniofacial FD were reconstructed into 3D model by using Mimics 10.0. Anatomical landmarks were located and the coordinate of the landmarks obtained. The differences between the right landmarks and the left were calculated and analyzed...
May 2015: Zhonghua Zheng Xing Wai Ke za Zhi, Zhonghua Zhengxing Waike Zazhi, Chinese Journal of Plastic Surgery
Rafael Denadai, Cesar Augusto Raposo-Amaral, Frederico Figueiredo Marques, Enrico Ghizoni, Celso Luiz Buzzo, Cassio Eduardo Raposo-Amaral
BACKGROUND: The surgical management of craniofacial fibrous dysplasia is controversial. The purpose of this study was to report the surgical outcomes of individualized management of craniofacial fibrous dysplasia of a single institution. METHODS: Data from patients (n = 20) with craniofacial fibrous dysplasia, who were surgically treated between 2007 and 2014, were analyzed. Surgical approach (radical or conservative surgery) was individualized according to age, craniofacial anatomical site (zones I to IV of Chen and Noordhoff), functional issues, aesthetic impairment, patients/parents' preferences, and surgical team experience...
August 2016: Annals of Plastic Surgery
Zerrin Unal Erzurumlu, Peruze Celenk, Emel Bulut, Yakup Sancar Barıs
Fibrous dysplasia is a benign fibroosseous bone dysplasia that can involve single (monostotic) or multiple (polyostotic) bones. Monostotic form is more frequent in the jaws. It is termed as craniofacial fibrous dysplasia, when it involves, though rarely, adjacent craniofacial bones. A 16-year-old girl consulted for a painless swelling in the right posterior mandible for two years. Panoramic radiography revealed ground-glass ill-defined lesions in the three different regions of the maxilla and mandible. Axial CT scan (bone window) showed multiple lesions involving skull base and facial bones...
2015: Case Reports in Dentistry
K V S Hari Kumar, K Aravinda, K Narayanan
Fibrous dysplasia (FD) is a benign bone disorder characterized by alteration in bone morphology. Monostotic FD is the commonest variant and affects the craniofacial bones. Raynaud's phenomenon is recurrent vasospasm of the fingers and toes due to cold exposure. The disease is usually idiopathic or secondary to connective tissue disorders. Raynaud's phenomenon is not described previously with FD. We recently encountered two interesting patients of craniofacial monostotic FD with Raynaud's phenomenon and report the same in this report...
July 2015: Journal of Natural Science, Biology, and Medicine
Elif Özsu, Gül Yeşiltepe Mutlu, Filiz Mine Çizmecioğlu, Şükrü Hatun
McCune-Albright Syndrome is a rare syndrome characterized with excessive function of peripheral endocrine organs and activating mutations of the stimulatory G protein alpha subunit are involved in the pathogenesis. The three main findings of the disease include hyperpigmented café au lait spots, fibrous dysplasia and increased endocrine functions and excessive secretion of growth hormone is observed in 21% of the patients. Clinical signs may be missed in these patients because of precocious puberty and craniofacial fibrous dysplasia...
June 2015: Türk Pediatri Arşivi
Seok Joo Kang, Min Joon Oh, Seong Pin Jeon
Although the bone-shaving procedure is the optimal alternative treatment of craniofacial fibrous dysplasia affecting the maxilla and zygoma, it is difficult to determine the appropriate amount of bone to be removed. The authors therefore developed a novel method for bone shaving using three-dimensional printing technology on computed tomography (CT) scans and screws as a guide. In our method, we implanted screws of predetermined lengths into surgical sites and then performed a burring within the visual field...
September 2015: Journal of Craniofacial Surgery
Alastair Darwood, Jonathan Collier, Naresh Joshi, William E Grant, Veronique Sauret-Jackson, Robin Richards, Andrew Dawood, Niall Kirkpatrick
Rapid prototyped or three dimensional printed (3D printed) patient specific guides are of great use in many craniofacial and maxillofacial procedures and are extensively described in the literature. These guides are relatively easy to produce and cost effective. However existing designs are limited in that they are unable to be used in procedures requiring the 3D contouring of patient tissues. This paper presents a novel design and approach for the use of three dimensional printing in the production of a patient specific guide capable of fully guiding intraoperative 3D tissue contouring based on a pre-operative plan...
September 2015: Journal of Cranio-maxillo-facial Surgery
Leonard Tang Yew Leong, Benjamin Julian Chang Chong Ming
PURPOSE: Craniofacial fibrous dysplasia is a benign slowly progressive disease in which normal craniofacial bones are replaced by immature fibro-osseous tissue. Orbital involvement may present as visual loss in some patients. The etiology of visual loss in orbital fibrous dysplasia is still unclear, with many theories proposed in recent literature. This has led to developments in the controversy regarding the role of prophylactic optic nerve decompression in asymptomatic orbital fibrous dysplasia patients...
May 2015: Asia-Pacific Journal of Ophthalmology
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