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Fibrous dysplasia


Disease: Fibrous dysplasia Fibrous dysplasia
Category: Immune diseases

Disease Definition:

This is a bone disorder in which scar-like (fibrous) tissue develops in place of normal bone and as the bone grows, the softer fibrous tissue expands and weakens the bone. The affected bone could deform and become brittle because of fibrous dysplasia.


Usually, no signs or symptoms are caused by mild cases of fibrous dysplasia. However, bone pain and deformity that usually develops before the age of 15 could be the result of more serious cases of fibrous dysplasia.


The exact cause of fibrous dysplasia is still not known and it has no cure. Usually, relieving the signs and symptoms is what treatment for fibrous dysplasia aims at.

Work Group:

Symptoms, Causes


Any bone in the body could be affected with fibrous dysplasia. However, most people with fibrous dysplasia don’t develop any signs or symptoms and have only one affected bone, a condition called monostotic fibrous dysplasia. Polyostotic fibrous dysplasia is when more than one bone is affected by this condition. Some of the most commonly affected bones include:


  • Skull
  • Facial bones
  • Upper arm bone (humerus)
  • Ribs
  • Pelvic bones
  • Thighbone (femur)
  • Shinbone (tibia)


Usually, fibrous dysplasia causes few or no signs or symptoms, especially if it is mild. Someone's signs and symptoms could develop during childhood, adolescence or adulthood. A person will be more likely to develop signs and symptoms by the age of 10 if he/she has the polyostotic form. Some of the signs and symptoms of more severe fibrous dysplasia include:


  • Fractures
  • Difficulty walking
  • Bone deformities
  • Bone pain


In some rare cases, fibrous dysplasia could be associated with abnormalities in the hormone-producing glands of the endocrine system that regulate various functions throughout the body, such as the pituitary gland. For instance, fibrous dysplasia could be caused by McCune-Albright syndrome, as well as the following:

Skin discoloration:

Café-au-lait spots, which are patches of darker skin, appear light coffee colored on fairer children, however, on children with darker skin, they could be quite difficult to see.

Precocious puberty (very early puberty):

Early puberty in boys is less common than in girls. Girls with McCune-Albright syndrome could experience menstrual bleeding and other signs of puberty before the age of 8, and boys with this condition could show signs of puberty at a younger age than normal.

Thyroid gland problems:

The small gland in the neck that affects metabolism could have cysts or become enlarged.


The development of fibrous dysplasia has been linked with a gene mutation that affects the cells that produce bone. Fibrous dysplasia is developed before birth. This disease is not inherited from parents, and parents cannot pass it on to their children. However, the exact cause of this mutation is still not known.


Even after someone stops growing, the bones are in a continuous process of renewal known as remodeling because bones are living tissue. In the process of remodeling, certain osteoclastic bone cells tear down (resorb) bone, while other osteoblastic cells rebuild it. This process is disrupted by fibrous dysplasia, which causes old bone to break down faster and replaces normal bone tissue with softer, fibrous tissue.



In addition to causing bone fractures, fibrous dysplasia could lead to:


Arthritis could form in the joints of the pelvic and leg bones in case those bones are deformed.

Bone deformity:

The weakened area of an affected bone could result in the bowing of the bone. In case someone's spine is affected, they could develop a condition called scoliosis, in which the spine is abnormally curved.

Vision and hearing loss:

Affected bone could surround the nerves to the eyes and ears. Loss of vision and hearing, which is a rare complication, could be caused by severe deformity of facial bones.


In some rare cases, the affected area of bone could become cancerous.


Someone's risk of developing deformity or fracturing their bone is low in case they have mild fibrous dysplasia that’s discovered incidentally and haven’t experienced any signs or symptoms. The condition could be monitored with follow-up X-rays every six months and the person won’t need any treatment in case there’s no progression.
However, in case he/she develops signs and symptoms, medication or surgery will be included in the treatment options.



In order to inhibit bone breakdown, preserve bone mass and increase bone density in the spine and hip, reducing the risk of fractures, medications called bisphosphonates could be used, including alendronate and pamidronate. Although these medications could reduce bone pain associated with fibrous dysplasia and in some cases improve bone formation, however, they are primarily used for adults in order to treat osteoporosis and increase bone density.
Although some studies have shown that bisphosphonates could help relieve pain in children and adolescents with severe fibrous dysplasia, however, not much is known about the use of bisphosphonates for children and adolescents.
Despite the fact that oral bisphosphonates could irritate the gastrointestinal tract, but they are usually well tolerated. However, there are some bisphosphonates that should be received intravenously because they aren’t available as oral medications. When received intravenously, these medications tend to work faster. In case someone can’t tolerate, or isn't a candidate for oral bisphosphonates, intravenous administration will be the next option. However, if someone has low blood calcium levels or a serious kidney disease, they cannot take bisphosphonates.



A person may be recommended surgery to:


  • Fix a fracture
  • Correct a deformity
  • Relieve pressure on a nerve, especially if the lesion is in the skull or face
  • Remove an affected area of bone (lesion) that is causing difficulty.


During this surgery, the bone lesion will be removed and then replaced with bone from another part of the body. In order to stabilize the bone and the graft, metal plates, rods or screws could be inserted. A bone graft may not last. Bleeding, blood clots and infection are some of the risks of this surgery.


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