Maxillary lesions may extend to involve the maxillary sinus, zygoma, sphenoid bone and floor of the orbit and require surgical intervention resulting in an acquired defect of the. The monostotic form of fibrous dysplasia is the most. There are many treatment option available, but still management of fd remains challenging. Sometimes, the classic clinical, radiologic or pathologic features of fibrous dysplasia or ossifying fibroma may not be evident, but overlapping features of both may be seen.
Fibrous dysplasia is a disease of bone tissue in which it is replaced by connective fibers. Few cases in patients with fibrous dysplasia complete planned dental work prior to starting. Fibrous dysplasia involving the skull base and temporal. Bisphosphonate treatment in polyostotic fibrous dysplasia. Primarily affecting adolescents and young adults, it accounts for 7% of benign bone tumors.
The major skeletal effect of fibrous dysplasia is to weaken the structural integrity of this area. Fibrous dysplasia mccune albright syndrome fdmas represents a wide spectrum of diseases due to somatic gainoffunction mutations of the gnas gene. Pdf the surgical management of fibrous dysplasia of bone. Areas of healthy bone are replaced with this fibrous tissue.
The treatment options for fibrous dysplasia of the cranium have been limited to conservative followup or surgery, and the use of zoledronic acid in this condition has not been previously reported. Treatment of craniomaxillofacial fibrous dysplasia. About 3% of fd could be in association with mccunealbright syndrome mas. Fibrous dysplasia is a congenital present at birth condition that affects bone growth and development. Varieties of fibrotic dysplasia and treatment methods 06. The treatment is based on the management of the malignancy and resection. Treatment guidelines for fdmas fibrous dysplasia foundation. Fibrous dysplasia irregular bone growths can cause pain, bone deformities or fractures. Ilizarov apparatus for treatment of melorheostosis.
Recommendations for endocrine followup of patientsread more. It causes normal bone to be replaced with fibrous tissue that is abnormal. Fibrous dysplasia diagnosis and treatment mayo clinic. Several studies have shown that bisphosphonates are useful in alleviating chronic pain in patients with fibrous dysplasia,but further studies are necessary to confirm these. Fibrous dysplasia overview nih osteoporosis and related. Characteristics and treatment results of 5 patients with. Pathophysiology and medical treatment of pain in fibrous. Monostotic fibrous dysplasia accounts for 80% of all cases. Symptoms of fibrous dysplasia can include bone pain, misshapen bones, and broken bones. Disease occurs along a broad clinical spectrum ranging from asymptomatic, incidental lesions, to severe disabling disease. Tocilizumab in the treatment of a polyostotic variant of.
Fibrous dysplasia is a rare bone disease caused by missense mutation leading to abnormal fibroblast and osteoblast proliferation and increased bone resorption. The following are set of recommendations for the diagnosis, treatment, and followup of patients with fd andor mas. Fibrous dysplasia mccune albright syndrome fdmas represents a wide spectrum of. The proximal third of the femur is a common location for fibrous dysplasia. Treatment of fibrous dysplasia utilizing digital planning. Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. It often involves the long bones, craniofacial bones, ribs, and pelvis. Treatment of fibrous dysplasia with zoledronic acid. There are specificities in the pathophysiology of bone pain compared to other tissues, including the role of increased bone resorption. Fibrous dysplasia genetic and rare diseases information. Fibrous dysplasia is a condition that disturbs the process of bone regeneration, with normal bone being replaced by abnormal fibrous tissue, leading to pain, weakening, and fracture of the affected bone. Cervical spine compromise is rare with only cases reported. Instead of maturing into solid bone, affected bones stay at the immature fibrous stage so are weak and misshapen.
The replacement of normal bone in fibrous dysplasia can lead to pain, misshapen bones, and fracture, especially when it occurs in the long bones. Fibrous dysplasia is a nonhereditary, progressive and benign disease, in which treatment options are symptomatic. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical features that vary in severity and age of onset. Fibrous dysplasia and ossifying fibroma an advent in. Fibrous dysplasia mccune albright syndrome fdmas represents a. Fibrous dysplasia and pain pain in fd is common, and can. The mutation occurs when a baby is developing in the womb. Fibrous dysplasia conforms to the shape of the involved bone. Treatment of fibrous dysplasia involving the proximal femur. Best practice management guidelines for fibrous dysplasia. Fibrous dysplasia is a developmental disorder of bone that can present in a monostotic or polyostotic form. Fibrous dysplasia is a skeletal disorder in which boneforming cells fail to mature and produce too much fibrous, or connective, tissue. Multidisciplinary approach for management of a patient. If definitive treatment is needed, we recommend surgery not radioiodine thyroid cancer in mas is rare, and radioiodine could be an additional risk factor beyond the gs mutation.
This is an enhanced pdf from the journal of bone and joint surgery. Fibrous dysplasia fd is a nonmalignant condition caused by. The maxilla is the most commonly affected facial bone, with facial asymmetry being the usual complaint. Imageguided navigation in optimizing surgical management of craniomaxillofacial fibrous dysplasia.
Because fd is a rare disease, there is limited data in the literature about characteristics of disease. Pdf clinical guidelines for the management of craniofacial. S ir, fibrous dysplasia of bone fdb is a benign disease leading to the slow replacement of normal bone by fibrous tissue, without osteoblastic rimming. It is important to see a surgeon who is knowledgeable about the types of operations that are most effective in fd.
Special forms of fibrous dysplasia leontiasis ossea. Medscape reference provides detailed information on the treatment of this condition. Fibrous dysplasia is a common benign skeletal lesion that may involve one bone. Pdf fibrous dysplasia fd is a developmental disorder of bone that can affect one bone monostotic type or multiple bones polyostotic type. The replacement of normal bone in fibrous dysplasia can lead to pain, misshapen bones, and fracture, especially when it occurs in the long bones arms and legs. This resource is aimed at healthcare professionals. Wang x, lin y, yu h, cheng ah, sun h, wang c, shen g. Your doctor will likely monitor your condition with periodic xrays. Objective to gain a broader appreciation of the clinical presentation, operative treatment, and outcome of patients with fibrous dysplasia involving the skull base. Bisphosphonates and denosumab in fibrous dysplasia alison boyce, md. Approximately 30% of monostotic fd mfd lesions are found in the cranial or facial bones.
Fibrous dysplasia is a common benign skeletal lesion that may involve one bone monostotic or multiple bones polyostotic and occurs throughout the skeleton with a predilection for the long bones, ribs, and craniofacial bones. Fibrous dysplasia is characterized by excessive proliferation of boneforming mesenchymal cells. Currently, the natural history of cervical fd is poorly understood, and its treatment remains controversial. Fibrous dysplasia is a skeletal disorder that is associated with a wide spectrum of clinical manifestations, including localized asymptomatic forms and extensive severe forms with severe bone deformities and endocrinological alterations, depending on. Surgical treatment of cervical spine fibrous dysplasia. Detailed explanations for these recommendations may be found in the chapters on fdmas published in orphanet. It is characterized by a heavy buildup of scar tissue, also known as fibrous tissue, within your bones. They advocated traction for patients who have a fracture ofthe femoral shaft, and they suggested that traction followed by the use of a castbrace could be used to treat fractures of the upper and lower extremities in children. Current approach to fibrous dysplasia of bone and mccunealbright. Polyostotic forms involve, in decreasing order of frequency, femurs, tibias, skull and facial bones, humerus and cervical spine. As a result, most complications result from fracture, deformity, functional impairment, and pain. Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue.
Fibrous dysplasia is a nonneoplastic hamartomatous developmental fibroosseous lesion of bone. The roentogenographic patterns of fibrous dysplasia are generally classified as cystic, sclerotic, and mixed type 7,10,15,17. Statistics show that in most cases of pathology tubular bones are exposed, however, there are cases of the spread of fibrotic dysplasia to the bones of the. The etiology of fibrous dysplasia has been linked to an activating mutation in the gene that encodes the. Monostotic fibrous dysplasia is more common than the polyostotic form and usually involves jaw bones, ribs and femur. Best practice management guidelines for fibrous dysplasiamccune. Threequarters of fdb cases are monostotic and occur mainly in craniofacial bones, ribs, femurs and tibias.
Due to this, the functions of the bones are seriously impaired, a person is faced with discomfort. Surgery is the treatment of choice with two available options. The radiologic manifestation of fibrous dysplasia varies depending on the relative amount of fibrous tissue and degree of calcification in the lesion 57,10. Albright syndrome and polyostotic fibrous dysplasia. Twentyeight craniomaxillofacial fibrous dysplasia patients were treated as early as the symptoms occurred. Atar d, lehman wb, grant ad, strongwater am 1992 the. Clinical guidelines for the management of craniofacial fibrous. Treatment includes surgery to remove diseased section of bone.
Intravenous bisphosphonate therapy is suggested to be a useful option in the treatment of cranial fibrous dysplasia. The two most confused benign fibroosseous lesions are fibrous dysplasia and ossifying fibroma. Fibrous dysplasia of the temporal bone med j malaysia vol 62 no 2 june 2007 161 discussion fibrous dysplasia is a benign bony disorder of unknown origin in which normal bone matrix is progressively replaced by cellular fibrous and connective tissue resulting in abnormal and unstable bone formation with reduced mineralization. Surgical treatment of polyostotic craniomaxillofacial fibrous dysplasia in adult. Fibrous dysplasia happens when abnormal fibrous scarlike tissue replaces healthy bone. Background fibrous dysplasia fd is an uncommon benign intramedullary fibroosseous lesion. Childrens hospital bostons web site has a fact sheet on fibrous dysplasia that includes information on treatment.
Some lesions are amenable to resection for a cure by a single procedure. Surgical reinforcement is used to treat bowing deformities and fractures. The hospital for sick children experience and treatment philosophy. Fibrous dysplasia is a condition that causes abnormal growth or swelling of bone. Annual ultrasound of the thyroid to follow lesions and biopsy clearly dominant, large or changing lesions. The treatment of fibrous dysplasia is limited to maintenance of maximum bone density. If you have mild fibrous dysplasia thats discovered incidentally and you have no signs or symptoms, your risk of developing deformity or fracturing your bone is low. This is a medical condition that disturbs the process of bone regeneration. More often, most lesions can be managed through staged procedures with. They are somewhat technical and it may be useful to discuss them with your doctor. Pdf fibrous dysplasia fd is a nonmalignant condition caused by postzygotic. More than one bone can be affected at any one time, and, when multiple bones are affected, it is not unusual for them to all be on one side of the body. Although fibrous dysplasia is a genetic disorder, its caused by a gene mutation thats not passed from parent to child.
Most people have symptoms by the time they are 30 years old. Fibrous dysplasia treatment, symptoms, causes, pictures. Postzygotic somatic activating mutations in the gnas1 gene cause fibrous dysplasia and have been extensively investigated, as well as. The cause seems to be a genetic change that alters the usual growth of the bones connective tissue. Fibrous dysplasia is described in terms of three major types. Because costal lesions are rarely removed in the polyostotic state of the disease and fibrous dysplasia of other bones is generally excised in parts, the complete removal of a monostotic fibrous dysplasia of rib offers an original opportunity to study a gross specimen intact.
Treatment with bisphosphonates is usually effective at relieving pain, but probably has no effect on the natural history of the disease. Fibrous dysplasia of bone fd is a rare disease responsible for bone deformities, fractures, nerve compression and bone pain. Surgery may be necessary to correct deformity and repair fractures. Treatment of fibrous dysplasia currently there are no medical treatments to alter the course of fd. Fibrous dysplasia doctors and departments mayo clinic. This page from great ormond street hospital gosh explains the causes, symptoms and treatment of fibrous dysplasia.
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