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- Fibrous dysplasia happens when a gene mutates (changes) while the baby is developing in the womb. The changes in the gene cause bone-forming cells to fail to mature. Instead, they produce abnormal fibrous tissue in certain bones. Because the gene change happens while the baby is developing, only specific bones will have the disease.
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Oct 26, 2023 · Fibrous dysplasia (FD) is a rare benign skeletal disorder that presents with a unique non-hereditary and idiopathic nature, in which fibro-osseous tissue replaces the normal bone [1]. In acute cases, it can lead to physical debilitation and a consequently high susceptibility to fractures and breaks.
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Jun 13, 2019 · To address this, our international consortium of clinicians, researchers, and patients’ advocates has developed pragmatic clinical guidelines for best clinical practice for the definition, diagnosis, staging, treatment and monitoring for FD/MAS to empower patients and support clinical teams in both general and specialised healthcare settings.
- Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Am...
- 2019
The exact cause of fibrous dysplasia isn't known, but it isn't passed down through families. Symptoms may include bone pain and deformity, a waddling walk, and scoliosis. Treatment may include surgery, medicines, pain management, and physical therapy.
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- Prognosis
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- Genetics
- Mechanism
- Epidemiology
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The severity and specific symptoms of FD can vary greatly from one person to another. Most affected individuals only have one bone involved and often there are no associated symptoms (asymptomatic). Many times, FD is discovered incidentally when x-rays are performed for another reason. Conversely, some affected individuals can have multiple bones a...
FD is a benign (noncancerous) disorder and does not spread. The bone or bones that are affected by the disorder are usually established early in life and it is very rare for new areas to become affected. The areas affected may be described as lesions. FD lesions may progressively grow and expand until an affected bone finishes growing. These lesion...
Women with FD may be at risk of increased pain during pregnancy because of the estrogen receptors found in FD.
The underlying cause of FD is not fully understood. Researchers believe that the disorder is caused by a mutation in a gene called GNAS1. This gene mutation occurs after fertilization of the embryo (somatic mutation) and is therefore not inherited, nor will affected individuals pass the mutation on to their children. Affected individuals have some ...
The GNAS1 gene is located on the long arm (q) of chromosome 20 (20q13.2) Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have ...
The GNAS1 gene creates (encodes) a protein known as a G-protein. In FD, a gain-of-function mutation in the GNAS1 gene results in the overproduction of this G-protein. In turn, this results in the overproduction of a molecule known as cyclic adenosine monophosphate (cAMP), which is involved in the change (differentiation) of osteoblasts in bone. Ost...
Fibrous dysplasia affects males and females in equal numbers. The disorder is diagnosed earlier in children and young children. The exact incidence and prevalence of the disorder is unknown. Mild cases may go undiagnosed, making it difficult to determine the true frequency of FD in the general population. The monostotic form is more common than the...
Symptoms of the following disorders can be similar to those of fibrous dysplasia. Comparisons may be useful for a differential diagnosis. A diagnosis of fibrous dysplasia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Individuals with mild forms...
Pagets disease of bone is a chronic, slowly progressive skeletal condition of abnormally rapid bone destruction (osteolytic) and reformation (osteoblastic). The new bone may occur in one or more regions of the body and is structurally abnormal, dense and fragile. This abnormal development may cause bone pain, arthritis, deformities and fractures. T...
A highly sensitive, specific form of polymerase chain reaction (PCR) has been used to detect somatic mutations of the GNAS1 gene that characterize FD. PCR is a laboratory test that has been described as a form of photocopying. It enables researchers to enlarge and repeatedly copy sequences of DNA. As a result, they are able to closely analyze DNA a...
Treatment The treatment of FD is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, general internists, orthopedic surgeons, endocrinologists, and other healthcare professionals may need to systematically and comprehensively plan an affec...
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Chapurlat RD, Gensburger D, Jimenez-Andrade JM, et al. Pathophysiology and medical treatment of pain in fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7:S3. http://www.ncbi.nlm.nih.gov/pubmed/22640953 Stanton RP, Ippolito E, Springfield D, et al. The surgical management of fibrous dysplasia of bone. Orphanet J Rare Dis. 2012;7:S1. http://www....
Moseley JN, Friedrich JB. Monostotic fibrous dysplasia of the distal radius metaphysis: case report. Hand (NY). 2011;6:224-227. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092897/
Regard JB, Cherman N, Palmer D, et al. Wnt/B-catenin signaling is differentially regulated by Ga proteins and contributes to fibrous dysplasia. Proc Natl Acad Sci USA. 2011;108:20101-20106. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250124/
Feb 26, 2015 · Fibrous dysplasia (FD) is a congenital skeletal disorder characterized by thinning of the cortex and replacement of the marrow with fibrous tissue, which can sometimes result in deformity, pain, pathologic fractures, loss of mechanical strength, and nerve entrapment. 1, 2 The disease, which was first reported by Von Recklinghausen in 1891, 3, 4 ...
- Oluwaseun A. Adetayo, Samuel E. Salcedo, Vedant Borad, Sara S. Richards, Adrienne D. Workman, Andrea...
- Eplasty. 2015; 15: e6.
- 2015
- 2015
Treatment of Fibrous Dysplasia. There is no cure for fibrous dysplasia. The goals for treatment may include: Treating and preventing fractures. Correcting misshapen bones when the bowing is severe. Managing pain. If you or your child do not have any symptoms and are not at risk for a facture, your doctor may recommend monitoring the condition.
Fibrous dysplasia happens when a gene mutates (changes) while the baby is developing in the womb. The changes in the gene cause bone-forming cells to fail to mature. Instead, they produce abnormal fibrous tissue in certain bones.
