A 22 YEARS FEMALE PATIENTS CAME WITH COMPLAINTS OF PAIN OVER RIGHT HIP SINCE 7 YEARS AND IT AGGRAVATES ON MOVEMENTS, DIFFICULTY IN WALKING AND SITTING CROSSED LEG….
Fibrous dysplasia (FD) is a congenital disorder arising from sporadic mutation of the α-subunit of the Gs stimulatory protein.
Osseous changes are characterized by the replacement and distortion of normal bone with poorly organized, structurally unsound, fibrous tissue.
Three basic forms of the disease are currently recognized:
the monostotic form (affecting one bone),
the polyostotic form (affecting many bones),
polyostotic form with associated endocrine abnormalities.
The symptoms of fibrous dysplasia depend on the location of the lesion and often its size.
Many lesions are completely asymptomatic.
Limp and intermittent pain.
RADIOLOGICAL FEATURES:
Ground glass or smoky appearance of the radiolucent lesion is classic.
The fibrous lesion often creates widening of the medullary canal, thinning of the cortex, and endosteal scalloping.
Most lesions demonstrate an encapsulated sclerotic border around the geographic lesion, which has been called the rind of sclerosis.
Shepherd crook deformity of femoral neck
Sarcomatous transformation is rare (0.5%).
Mutation timing determines the extent of the disease and clinical manifestations. The stage of embryogenesis during which a mutation occurs, and the locations to where mutated progenitors subsequently migrate, determines if a patient will have a single lesion, polyostotic disease or one of the FD-related syndromes. Mutations that occur at early stages of embryogenesis result in the widespread distribution of the lesions. Mutations that develop at late stages of embryogenesis lead to more focused distribution of the lesions. Patients with McCuneAlbright syndrome (MAS) may have different extra-skeletal abnormalities. Some of these abnormalities may progress to malignancy; part of them become stable throughout life; some abnormalities can regress or disappear
McCune-Albright syndrome (MAS) is a genetic disorder characterized by the association of:
endocrinopathy: precocious puberty
polyostotic fibrous dysplasia: more severe than in sporadic cases
cutaneous pigmentation: coast of Maine 'cafe au lait' spots
Bone changes in MAS are often more severe than in polyostotic FD without extra-skeletal manifestations.
MAS patients regularly experience multiple fractures, and require adequate surgical treatment
Patients with Mazabraud syndrome have FD lesions and myxomas, typically located in the vicinity of the bone lesions.
Mazabraud syndrome is rare.
The syndrome is more common with the polyostotic form of FD
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