|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (January 2009) |
Fibrous dysplasia |
Classification and external resources |
Micrograph showing fibrous dysplasia with the characteristic thin, irregular (Chinese character-like) bony trabeculae and fibrotic marrow space. H&E stain. |
ICD-10 |
K10.8, M85.0, Q78.1 |
ICD-9 |
526.89, 733.29,
756.54 |
MedlinePlus |
001234 |
eMedicine |
radio/284 |
MeSH |
D005357 |
Fibrous dysplasia is an abnormal bone growth where normal bone is replaced with fibrous bone tissue. Fibrous dysplasia causes abnormal growth or swelling of bone. Fibrous dysplasia can occur in any part of the skeleton but the bones of the skull, thigh, shin, ribs, upper arm and pelvis are most commonly affected. Fibrous dysplasia is very rare, and there is no known cure. Fibrous dysplasia is not a form of cancer.
Most lesions are monostotic, asymptomatic and identified incidentally and can be treated with clinical observation and patient education.
This disorder is usually diagnosed in childhood or early adulthood and can affect one or several bones. Males and females of any race are equally affected.
Contents
- 1 Pathophysiology
- 2 Presentation
- 3 Treatment
- 4 See also
- 5 References
- 6 External links
|
Pathophysiology
In fibrous dysplasia, the medullary cavity of bones is filled with fibrous tissue, causing the expansion of the areas of bone involved. The bony trabeculae are abnormally thin and irregular, and often likened to Chinese characters.
The cause of this transformation, in turn, is not completely known, however. Levels of the transcription factor C-fos are raised in fibrous dysplasia, leading to gene over-expression and tumour formation.[1][2] It is not hereditary.[3] There are two types of fibrous dysplasia:
- Monostotic (Involving a single bone, or adjacent bones, like both the upper and lower jaw)
- Polyostotic (Involving many bones).
The most severe form of polyostotic fibrous dysplasia is known as McCune-Albright syndrome. Fibrous dysplasia of bone may also be an associated abnormality in Neurofibromatosis type II.
Presentation
Fibrous dysplasia of the right zygomatic bone (left in the image).Corresponding T2-weighted MRI (left) and CT (right) of the same patient.
Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved.
- Many patients have lesions localized in only one bone (monostotic fibrous dysplasia), affecting 70–80%.
- Others have them in many bones (polyostotic fibrous dysplasia).
In 3% of cases, people suffering from fibrous dysplasia also have endocrine diseases and skin pigmentation; the three together constitute McCune-Albright syndrome. These endocrine diseases include precocious (early) puberty, often occurring as early as 6 years old.
In most cases, fibrous dysplasia has no symptoms and is only diagnosed by accident during investigations for an unrelated medical problem. When symptoms occur, they can include:
- Pain - caused by the expansion of bone. Treatment for this is pain management therapy, analgesics and anti-inflammatory medication.
- Irregular bone growth
- Bone deformity
- Increased susceptibility to bone fractures (rare)
Micrograph of fibrous dysplasia (right of image) jutxaposed with unaffected bone (left of image). H&E stain.
Treatment
Treatment options may include:
- Medication to strengthen bones (amino-bisphosphonates)
- Medication to treat onset of pain
- Pain management therapy
See also
References
- ^ Candeliere GA, Glorieux FH, Prud'homme J, St-Arnaud R (June 1995). "Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia". N. Engl. J. Med. 332 (23): 1546–51. doi:10.1056/NEJM199506083322304. PMID 7739708. http://content.nejm.org/cgi/content/abstract/332/23/1546.
- ^ Kashima TG, Nishiyama T, Shimazu K, et al. (February 2009). "Periostin, a novel marker of intramembranous ossification, is expressed in fibrous dysplasia and in c-Fos-overexpressing bone lesions". Hum. Pathol. 40 (2): 226–37. doi:10.1016/j.humpath.2008.07.008. PMID 18799196. http://linkinghub.elsevier.com/retrieve/pii/S0046-8177(08)00317-1.
- ^ Fibrous Dysplasia at eMedicine
External links
- Duke Orthopedics fibrous_dysplasia
- Fibrous Dysplasia Pictures MedPix Imaging Database
- Fibrous Dysplasia of the Skull Images radRounds Radiology Image Database
- Fibrous dysplasia from Radiopaedia.
- Fibrous Dysplasia Foundation
Osteochondropathy (M80–M94, 730–733)
|
|
Osteopathies |
Osteitis
|
endocrine bone disease: Osteitis fibrosa cystica (Brown tumor)
infectious bone disease: Osteomyelitis (Sequestrum, Involucrum) · Sesamoiditis · Brodie abscess · Periostitis · Vertebral osteomyelitis
|
|
Bone density
and structure
|
Density / metabolic bone disease
|
Osteoporosis (Juvenile) · Osteopenia · Osteomalacia
|
|
Continuity of bone
|
Pseudarthrosis · Stress fracture
|
|
Other
|
Fibrous dysplasia (Monostotic, Polyostotic) · Skeletal fluorosis · bone cyst (Aneurysmal bone cyst) · Hyperostosis (Infantile cortical hyperostosis) · Osteosclerosis (Melorheostosis)
|
|
|
Bone resorption
|
Osteolysis · Hajdu-Cheney syndrome · Ainhum
|
|
Ischemia
|
Avascular necrosis (Osteonecrosis of the jaw)
|
|
Other
|
Paget's disease of bone · Algoneurodystrophy · Hypertrophic pulmonary osteoarthropathy · Nonossifying fibroma
|
|
|
Chondropathies |
Chondritis
|
Relapsing polychondritis
|
|
Other
|
Tietze's syndrome
|
|
|
Both |
Osteochondritis
|
Osteochondritis dissecans
|
|
Juvenile osteochondrosis
|
lower limb: hip (Legg–Calvé–Perthes syndrome) · tibia (Osgood-Schlatter disease, Blount's disease) · foot (Köhler disease, Sever's disease)
spine (Scheuermann’s disease)
upper limb: wrist (Kienbock's disease) · elbow (Panner disease)
|
|
|
|
anat (c/f/k/f, u, t/p, l)/phys/devp/cell
|
noco/cong/tumr, sysi/epon, injr
|
|
|
|
|
Osteochondrodysplasia (Q77–Q78, 756.4–756.5)
|
|
Osteodysplasia/
osteodystrophy |
Diaphysis
|
Camurati-Engelmann disease
|
|
Metaphysis
|
Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid metaphyseal chondrodysplasia
|
|
Epiphysis
|
Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia · Otospondylomegaepiphyseal dysplasia
|
|
Osteosclerosis
|
Raine syndrome · Osteopoikilosis · Osteopetrosis
|
|
Other/ungrouped
|
FLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia (McCune-Albright syndrome)
|
|
|
Chondrodysplasia/
chondrodystrophy
(including dwarfism) |
Osteochondroma
|
osteochondromatosis (Hereditary multiple exostoses)
|
|
Chondroma/enchondroma
|
enchondromatosis (Ollier disease, Maffucci syndrome)
|
|
Growth factor receptor
|
FGFR2: Antley-Bixler syndrome
FGFR3: Achondroplasia (Hypochondroplasia) · Thanatophoric dysplasia
|
|
COL2A1 collagen disease
|
Achondrogenesis (type 2) · Hypochondrogenesis
|
|
SLC26A2 sulfation defect
|
Achondrogenesis (type 1B) · Recessive multiple epiphyseal dysplasia · Atelosteogenesis, type II · Diastrophic dysplasia
|
|
Chondrodysplasia punctata
|
Rhizomelic chondrodysplasia punctata · Conradi-Hünermann syndrome
|
|
Other dwarfism
|
Fibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosis
|
|
|
|
anat (c/f/k/f, u, t/p, l)/phys/devp/cell
|
noco/cong/tumr, sysi/epon, injr
|
|
|
|
|