Fibrous dysplasia
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Fibrous dysplasia is a disease that causes growths or lesions in one or more bones of the human body.
These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. 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.
Fibrous dysplasia is very rare, not much is known about it, and there is no known cure. However, it is known that it is caused by a genetic mutation that occurs sometime during fetal development, and is not hereditary.
Salient features:
- Defect in osteoblastic differentiation and maturation resulting in replacement of medullary bone with fibrous tissue
- Virtually any bone in the body can be affected.
- It is a nonhereditary disorder of unknown cause.
Monostotic
- Accounts for approx 70-80% of fibrous dysplasias.
- Location in decreasing order of frequency:
- Rib (28%)
- Femur (23%)
- Tibia
- Craniofacial bones (10-25%)
- Humerus
- Vertebrae
- The degree of bone deformity of the monostotic form is relatively less severe than that of the polyostotic type.
Polyostotic
- Account for approximately 20-30% of fibrous dysplasias.
- Sites of involvement are:
- Femur (91%)
- Tibia (81%)
- pelvis (78%)
- Ribs
- Other locations include skull and facial bones, upper extremities, lumbar spine, clavicle, and cervical spine.
- The dysplasia may be unilateral or bilateral, and it may affect several bones of a single limb or both limbs with or without axial skeleton involvement.
Other features:
- Fibrous dysplasia is associated with endocrinopathies in 2-3% of cases
- Precocious puberty in girls
- Hyperthyroidism
- Other endocrinopathis include hyperparathyroidism, acromegaly, diabetes mellitus, and Cushing syndrome.
McCune-Albright syndrome:
- Sexual precocity in girls, with polyostotic fibrous dysplasia and cutaneous pigmentation (cafe-au-lait spots).
Mazabraud's syndrome:
- Intramuscular myxomas associated with fibrous dysplasia of bone (written boards question)
Patient #1: Polyostotic fibrous dysplasia
Patient #2: McCune-Albright Syndrome
Patient #3: Shepard's crook deformity
