Any one have or know someone with Fibrous Dysplasia?

December 9, 2009 | By admin In New Diseases |
rare disease
blueeyes34562001

My daughter was diagnosed with fibrous dysplasia a rare bone disease…just curious if anyone else is faced with this disease on here! Thanks!

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1 Comment so far

  1. yany_316 on December 10th, 2009

    Fibrous dysplasia is a chronic condition of the skeleton where a portion of a bone develops abnormally. The condition begins before birth. It is caused by a gene mutation that affects the cells that produce bone. The mutation causes the cells to form an abnormal type of fibrous bone that gradually grows and expands over a period of years, causing a weakened area of the bone. The area of weak bone can cause pain. It can crack (fracture) the bone, and may lead to deformity. Although the abnormal bone forms before birth, its presence is often not discovered until childhood, adolescence, or even adulthood. Any bone may be affected-the most common bones involved are the thighbone, shinbone, ribs, skull, upper arm bone and pelvis. Usually only one bone is involved (monostotic fibrous dysplasia). Less often, multiple bones are involved (polyostotic fibrous dysplasia). The polyostotic form is generally more severe and is discovered earlier. This form can involve as few as two bones in the same limb or multiple bones throughout the skeleton.

    The frequency of fibrous dysplasia is not known but it accounts for approximately seven percent of all benign bone tumors. The cause of the gene mutation is not known. It is not inherited or passed on to the children of affected patients. No dietary or environmental cause is known. It occurs equally among males and females of all races.

    The same abnormality that occurs in the bone cells of fibrous dysplasia may also occur in the cells of some of the body’s glands that can lead to hormonal abnormalities. This is rare and is generally only happens with severe forms of polyostotic fibrous dysplasia. McCune-Albright syndrome is a condition where polyostotic fibrous dysplasia occurs with pigmented skin lesions (“cafe au lait” spots) and hormonal abnormalities.

    A doctor can usually diagnose fibrous dysplasia based in part on X-rays. X-rays show an abnormal area of bone that typically has an appearance similar to that of “ground glass.” There frequently is expansion of the involved area of bone. There may be deformity of the bone that is usually seen as bowing. A bone scan will show a “hot spot” in the areas of involved bone; it is a good test to check the entire skeleton for areas of fibrous dysplasia. Magnetic resonance imaging (MRI) will show the involved area of bone and may be helpful to determine whether or not areas have become cancerous. If a fracture is present, it will generally be seen on X-ray and/or MRI. A computed tomography (CT) scan may help the doctor to see fractures and determine the weakness of the bone.

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