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Fibrous dysplasia : Causes-Symptoms-Diagnosis-Treatment

 What is fibrous dysplasia (FD)?

Fibrous dysplasia (FD) may be a rare bone disorder. Bone full of this disorder is replaced by abnormal scar-like (fibrous) animal tissue. This abnormal animal tissue weakens the bone, creating it abnormally fragile and liable to fracture. Pain might occur within the affected areas. As youngsters grow, affected bones might become ill-shapen (dysplastic). FD might solely have an effect on one solitary bone (monostotic disease) or the disorder will be widespread, touching multiple bones throughout the body (polyostotic disease). The severity of the disorder will vary greatly from one person to another. Any part of the skeleton will be affected, however the long bones of the legs, the bones of the face and os (craniofacial area), and therefore the ribs area unit most frequently affected. FD is sometimes diagnosed in youngsters or young adults, however gentle cases might go unknown till adulthood. In some cases, FD might not need treatment; in alternative cases, sure medications and surgical procedures are also counseled.

Fibrous abnormality (FD) is an associate degree uncommon disorder of the skeleton that's seldom cancerous (less than one percent). This disorder leads to fibrous bone-like tissue that replaces traditional, healthy bone, inflicting the affected areas to be additionally vulnerable to fractures (broken bone).

What is fibrous dysplasia (FD)?
fibrous dysplasia

FD will have an effect on one bone (known as monostotic FD), multiple bones (known as polyostotic FD) or the whole skeleton (known as panostotic FD). it should even be related to darkened patches of the skin referred to as restaurant au lait macules. Most often, it affects the bones of the legs, upper arms, os (including the facial bones) and ribs.

Anyone will have fibrous abnormality, and it will be diagnosed at any age. The condition isn't connected to anybody's quality or geographical location, and affects males and females equally. it's believed that the bone abnormality happens in childhood, however might go neglected unless there's associated pain, a limp develops or a fracture happens.

Fibrous abnormality is rare. and since gentle cases might go unknown, it's tough to outline the frequency of this disorder.

  1. Musculoskeletal system

  1. Human skeleton

  2. Joints

  3. Ligaments

  4. Muscular system

  5. Tendons

Medical terms

  • FD was 1st delineated within the medical literature in 1938 by Dr. Roy Lichtenstein and in 1942 by Drs. Roy Lichtenstein and Jaffe. Fibrous abnormal conditions will occur as a part of a bigger disorder like McCune-Albright syndrome (fibrous dysplasia-café au lait spots-endocrine dysfunction) or Mazabraud syndrome (fibrous dysplasia-myxomas). The term Jaffe-Lichtenstein syndrome is usually used synonymously with monostotic FD or to denote cases of polyostotic FD with restaurant au lait spots, however no endocrine pathology. These disorders presumably represent a spectrum of sickness related to activating mutations of the GNAS1 cistron.

  • Fibrous dysplasia is AN uncommon bone disorder during which scar-like (fibrous) tissue develops in situ of traditional bone. This irregular tissue will weaken the affected bone and cause it to deform or fracture.

  • In most cases, fibrous abnormal condition happens at one website in one bone, however will occur at multiple sites in multiple bones. Single bone involvement typically happens in adolescents and young adults. Those that have quite one affected bone usually develop symptoms before the age of ten.

  • Although fibrous abnormality could be a hereditary condition, it's caused by a point mutation that is not passed from parent to kid. there is not any cure for the disorder. Treatment, which can embrace surgery, focuses on relieving pain and repairing or helpful bones. 

  • Fibrous Dysplasia is a genetic disorder of the connective tissues of the body Affected individuals have abnormal areas of hardened firm tissue that are caused by a defect in certain genes involved in normal bone formation These abnormalities can affect any part of the body and can lead to pain fractures loss of function respiratory problems and potentially cancer.

Fibrous dysplasia occurs when the body produces abnormal bone resulting in a soft mass of fibrous tissue or an area that feels like sandpaper Some people experience pain and swelling around the affected area The severity of these symptoms depends on how much and what kind of bone is present in the fibrous dysplasia When fibrous dysplasia affects the skull it is called osteosarcoma which can cause shedding and loss of teeth as well as vision problems hearing loss and difficulty chewing.

It often results in one or more, of the following:

  1. Bone deformity

  2. Brittle bones

  3. Pain

  4. Uneven growth of bones

  5. Facial bones

  6. Pelvis

  7. Ribs

  8. Shinbone (tibia)

  9. Skull

  10. Thighbone (femur)

  11. Upper arm bone (humerus)

  12. Vertebrae in the spine

  • Some individuals develop secretion issues and a condition known as McCune-Albright syndrome. McCune-Albright syndrome is another style of fibrous abnormal condition. It causes totally different symptoms, like early onset of time of life and skin spots, known as café-au-lait spots.

    Fibrous abnormal conditions typically happen in kids ages three to fifteen. it's typically not diagnosed till adulthood. It's found equally in men and girls.

Symptoms Fibrous dysplasia (FD)

The severity and specific symptoms of FD will vary greatly from one person to another. Most affected people solely have one bone concerned and infrequently there are not any associated symptoms (asymptomatic). Many times, FD is discovered incidentally once x-rays are performed for one more reason. Conversely, some affected people will have multiple bones affected and develop severe and probably disabling or disfiguring symptoms. In most affected people, onset of symptoms is typically in childhood; it's uncommon for the onset of the disorder to occur once ten.

FD may be a benign (noncancerous) disorder and doesn't unfold. The bone or bones that are stricken by the disorder are typically established early in life and it's terribly rare for brand spanking new areas to become affected. The areas affected are also represented as lesions. FD lesions might ANd more} grow and expand till an affected bone finishes growing. These lesions will eventually cause affected bones to become abnormally weakened, misshapen, and vulnerable to fracture. Bone pain also can occur and should be severe in some patients.

Specific symptoms related to FD rely upon the particular bones concerned. Any part of the skeleton will probably be affected, however the long bones of the arms and legs, the bones of the face and os (craniofacial area), and therefore the ribs are most frequently affected. Monostotic FD usually presents as an effortless swelling on the ribs. FD moving the spine will cause abnormal curvature of the spine (scoliosis). Once the long bones of the legs are affected, this could cause frequent fractures thanks to weight bearing once walking or standing. to boot, the long bones will eventually become bowed. In youngsters, their legs might not be of equal length (limb length discrepancy). Eventually, this could have an effect on a person’s ability to run, inflicting Associate in Nursing abnormal gait (e.g. walking with a limp).

FD of the craniofacial region will cause a range of symptoms counting on the kind and specific location of the lesions(s). Such symptoms will embody pain, nasal congestion, misaligned or displaced teeth, uneven jaws, and facial spatiality, during which one aspect of the face doesn't match the opposite aspect. FD within the craniofacial region will alter the countenance leading to Associate in Nursing abnormally distinguished forehead (frontal bossing), bulging eyes (proptosis), and distinction within the vertical positions of the eyes so the eyes are uneven (vertical dystopia). The degree of facial abnormality will vary greatly from one person to another. the form of the os is also altered in sure cases.

FD will probably cause a range of medical specialty symptoms as areas of abnormal tissue development will compress near nerves. Specific symptoms are associated with the particular nerves concerned. For instance, vision loss and impairment will occur as a result of compression of optic and audible nerves within the os. However, vision loss and impairment solely occur in rare instances.

The abnormal structure of the affected bone will cause osteoarthritis in adjacent joints.

Women with FD are also in danger of redoubled pain throughout physiological conditions as a result of the estrogen receptors found in FD.

Although the term tumor is also wont to describe FD lesions, these growths are benign (non-cancerous). solely in extraordinarily rare cases do FD lesions become cancerous (malignant transformation). These malignant tumors developed in people by the World Health Organization had been radiated for bone pain; a treatment choice that has been abandoned.

Fibrous dysplasia may cause few or no signs and symptoms, particularly if the condition is mild. More severe fibrous dysplasia may cause:

  • Bone pain, usually a mild to moderate dull ache

  • Swelling

  • Bone deformity

  • Bone fractures, particularly in the arms or legs

  • Curvature of leg bones

Fibrous dysplasia can affect any bone in the body, but the most commonly affected bones include the following:

  • Thighbone (femur)

  • Shinbone (tibia)

  • Upper arm bone (humerus)

  • Skull

  • Ribs

  • Pelvis

Rarely, fibrous dysplasia may be associated with a syndrome that affects the hormone-producing glands of your endocrine system. These abnormalities may include:

  • Very early puberty

  • Overactive hormone production

  • Light brown spots on the skin

Increased bone pain also may be associated with the normal hormonal changes of the menstrual cycle or pregnancy.

When to see a doctor

See your doctor if you or your child develops any of the following:

  • Bone pain that increases with weight-bearing activity or doesn't go away with rest

  • Bone pain that interrupts sleep

  • Difficulty walking or limping

  • Unexplained swelling

  • Changes in bone shape

  • Difference in limb length

Causes Fibrous dysplasia (FD)

The underlying reason for FD isn't absolutely understood. Researchers believe that the disorder is caused by an amendment (mutation) during a cistron referred to as GNAS1. This genetic mutation happens when fertilization of the embryo (somatic mutation) is so not inheritable , nor can affected people pass the mutation on to their youngsters. Affected people have some cells with a standard copy of this cistron and a few cells with the abnormal cistron (mosaic pattern). The variability of symptoms of FD is due, in part, to the quantitative relation of healthy cells to abnormal cells. Researchers don't understand why these bodily mutations occur; they seem to develop at random for unknown reasons (sporadically).

The GNAS1 cistron creates (encodes) a macromolecule referred to as a G-protein. In FD, a gain-of-function mutation within the GNAS1 cistron leads to the overrun of this G-protein. In turn, this leads to the overrun of a molecule referred to as cyclic adenylic acid (cAMP), that is concerned within the amendment (differentiation) of osteoblasts in bone. Osteoblasts area unit bone-forming cells that type new bone. The human skeleton lives in tissue that's perpetually dynamical (remodeling). It's believed that FD involves hyperbolic bone turnover. Bone turnover could be a traditional method within which bone step by step breaks down (bone resorption) so reforms. Bone turnover involves osteoblasts and cells that manage bone reabsorption (osteoclasts). The interaction between osteoclasts and osteoblasts determines bone reforms. The interaction could be an advanced method that involves several factors. Improper differentiation of osteoblasts thanks to mutation of the GNAS1 cistron is believed to contribute to the event of FD. The activity of the osteoclasts in removing bone in all probability permits skeletal root cells as well as immature osteoblasts and plant tissue to have more room to grow and multiply.

Fibrous dysplasia is joined to a genetic mutation gift in sure cells that turn out bone. The mutation leads to the assembly of immature and irregular bone tissue. Most frequently the irregular bone tissue (lesion) is given at one website on one bone. Less typically multiple bones are unit affected, and there could also be quite one lesion on multiple bones.

A lesion sometimes stops growing someday throughout time of life. However, lesions could grow once more throughout gestation.

The genetic mutation related to fibrous abnormality happens when conception, within the early stages of vertebrate development. Therefore, the mutation is not inheritable from your folks, and you cannot pass it on to your youngsters. 

Can fibrous dysplasia spread?

Fibrous dysplasia, a condition characterized by abnormal bone growth, is not contagious or directly hereditary. A person born with fibrous dysplasia cannot pass it on to his children.

Is fibrous dysplasia preventable?

People with fibrous dysplasia can help prevent dents in the nasal bridge and eyes by avoiding contact sports.

Dysplasia is a term that refers to benign but abnormal growth of cells Malignant dysplasia or cancerous growth of cells can develop from dysplasia if it is not treated Dysplastic cells display certain characteristics under the microscope and are classified as mild (atypical) moderate (borderline) or severe (high-grade) Mild dysplasia is also called atypia; it does not usually progress to invasive cancer Moderate and severe dysplasias have a higher risk of developing into malignancy but can be controlled if caught early enough in the development process Some potential indications of.

Does fibrous dysplasia affect teeth?

To determine if fibrous dysplasia affects teeth it is important to understand the condition itself Fibrous Dysplasia is a genetic disease that causes bone tissue to form incorrectly and abnormally throughout the body Along with affecting bones the disorder can also cause malformations of soft tissues and internal organs The location of where the mutation occurs determines what areas will be affected by fibrous dysplasia in an individual diagnosed with it.

Can fibrous dysplasia be reversed?

The answer is almost definitely no Fibrous dysplasia a rare disorder of the skeleton involves the abnormal formation and growth of bone tissue The disorder typically affects either one or several bones at a time including those in the spine skull limbs and jaw Unfortunately for those affected by fibrous dysplasia it will never go away completely However people with the disease can take medications to help manage its effects.

Fibrous dysplasia is diagnosed by your orthopedic surgeon or a bone specialist who reviews your medical history and looks at the x-rays of your hands and wrists The doctor will also examine your hand for pain and tenderness look for calluses on the knuckles and observe finger movement A blood test may be done to check for abnormal levels of calcium in the blood or vitamin D deficiency An MRI (magnetic resonance imaging) scan may be ordered to create a three dimensional picture of your bones.

Complications Fibrous dysplasia

Severe fibrous dysplasia can cause:

  • Bone deformity or fracture. The weakened area of an affected bone can cause the bone to bend. These weakened bones also are more likely to fracture.

  • Vision and hearing loss. The nerves to your eyes and ears may be surrounded by affected bone. Severe deformity of facial bones can lead to loss of vision and hearing, but it's a rare complication.

  • Arthritis. If leg and pelvic bones are deformed, arthritis may form in the joints of those bones.

  • Cancer. Rarely, an affected area of bone can become cancerous. This rare complication usually only affects people who have had prior radiation therapy.

Diagnosis Fibrous dysplasia (FD)

A designation of fibrous abnormality relies upon identification of characteristic symptoms, an in depth patient history, a radical clinical analysis and a range of specialized tests. People with delicate varieties of monostotic FD could also be diagnosed incidentally once receiving Associate in Nursing x-ray for one more reason.

Specialized imaging techniques could also be wont to judge bone. Such imaging techniques embody CT (CT) scanning and resonance imaging (MRI). Throughout CT scanning, a pc and x-rays square measure want to produce a movie showing cross-sectional pictures of sure tissue structures. Associate in Nursing MRI uses a field and radio waves to supply cross-sectional pictures of specific organs and bodily tissues. The abnormal tissue in FD resembles ground glass once seen on x-ray. These tests could also be wont to confirm however extensively bones square measure affected.

A bone scan, conjointly called bone scintigraphy, is employed to work out the extent of bone sickness and should be used once a solitary FD lesion is found to substantiate a designation of monostotic FD or to find whether or not further affected square measures are gift (polyostotic FD). Throughout this take a look at a harmless hot dye is injected into the Associate in Nursing arm vein. A special camera which will track the dye because it travels through bone is employed to form an image of the skeleton and confirm all affected areas.

Bone diagnostic test is the surgical removal and microscopic examination of a little sample of affected tissue. A bone diagnostic test will reveal characteristic changes to bone that occur in people with FD and should be necessary to differentiate a FD lesion from different kinds of growths or tumors if it's unclear once Associate in Nursing x-ray.

A sensitive, specific sort of enzyme chain reaction (PCR) has been wont to discover corporeal mutations of the GNAS1 factor that characterize FD. PCR may be a laboratory take a look at that has been delineated as a sort of “photocopying.” It allows researchers to enlarge and repeatedly copy sequences of DNA. As a result, they're able to closely analyze DNA and a lot of simply determine genes and genetic changes (mutations). In FD, a particular sort of PCR testing will discover activating mutations of GNAS1 in peripheral blood cells.

The primary tool for designation of fibrous abnormalcy is Associate in Nursing X-ray. Whereas bone seems solid in Associate in Nursing X-ray, a fibrous abnormality lesion includes a relatively distinct look usually delineated as "ground glass." The condition could also be diagnosed, therefore, even {in a|during a|in Associate in Nursing exceedingly|In a very} person with no symptoms, the World Health Organization is obtaining an X-ray for different reasons.

An X-ray may also facilitate your doctor confirming what proportion of the bone is affected and whether or not there's any deformity within the bone.

Additional tests may be used to confirm a diagnosis or rule out other disorders:

  • Imaging tests. Computerized tomography and magnetic resonance imaging can produce cross-sectional or 3-D images of bone. These tools can help your doctor better characterize the quality of bone or a fracture associated with fibrous dysplasia.

  • Bone scan. A bone scan may be a nuclear imaging check. A little quantity of radioactive tracer is injected into your blood and brought up by broken parts of bone. Once your body is scanned with a specialized camera, the photographs will facilitate a doctor determining multiple fibrous abnormality lesions. 

  • Biopsy. This takes a look at using a hollow needle to get rid of atiny low piece of the affected bone for microscopic analysis. The structure and arrangement of cells will ensure a fibrous abnormality designation. 

Treatment Fibrous dysplasia (FD)

Treatment for fibrous abnormalcy depends on the severity of the disorder and therefore the presence of symptoms. In some cases, doctors merely monitor your bone health to create a positive FD that doesn't decline.

Doctors often visit medications known as bisphosphonates in a shot to ease pain and facilitate stop fractures. Studies are a unit in progress to see the effectiveness of denosumab (Prolia®), which could be a drug ordinarily wont to treat pathology. For a few individuals, braces will facilitate stopping bone fractures.

Surgery might become necessary if a bone laid low with FD breaks. Surgery will stabilize the bone, correct disfigurement and stop more fractures. Generally doctors use metal plates, rods or screws to stabilize the bones. Contouring or “shaving” affected bone may end up in fast regrowth.

If you've got a delicate fibrous abnormality that is discovered incidentally and you've got no signs or symptoms, your risk of developing deformity or fracturing your bone is low. Your doctor can possibly monitor your condition with periodic X-rays.


Specific treatment for fibrous dysplasia will be determined by your healthcare provider based on:

  • Your age, overall health, and medical history

  • Extent of the disease

  • Your tolerance for specific medicines, procedures, or therapies

  • Expectations for the course of the disease

  • Your opinion or preference

Surgical treatment may include the following procedures:

  • Placement of a rod down the shaft of the bone

  • Removal of affected bone, followed by bone grafting

  • Removal of bone wedge

Other treatment may include:

  • Medicines

  • Pain management

  • Physical therapy


Osteoporosis medications referred to as bisphosphonates facilitate stop bone loss by decreasing the activity of cells that commonly dissolve bone. Some studies advise that bisphosphonates might strengthen bones plagued by fibrous abnormality and will relieve bone pain.


Your doctor may recommend surgery in order to:

  • Correct a deformity

  • Correct a difference in limb lengths

  • Repair a fracture that does not heal with casting

  • Prevent fractures

  • Relieve pressure on a nerve, particularly if the lesion is in your skull or face

Surgery might involve removing the bone lesion and replacing it with a bone graft: bone from another part of your body, bone tissue from a donor or an artificial material. In some cases a fibrous abnormal condition lesion might develop once more.

Your medico conjointly might insert metal plates, rods or screws to forestall fractures or to stabilize a bone or bone graft.

  1. Healthy foods for the musculoskeletal system
  2. Rehabilitation program and health tips for the musculoskeletal system

Preparing for your appointment

Most people with fibrous abnormal condition do not have symptoms associated with degreed ar diagnosed once an X-ray taken for an additional reason reveals signs of fibrous abnormal condition.

However, in some cases you or your kid could experience pain or alternative symptoms that lead you to schedule a rendezvous together with your GP or your child's baby doctor. In some cases, you'll be named a doctor. The World Health Organization focuses on treating bone and muscle injuries or disorders (orthopedic surgeon).

What you can do

Before your appointment, you might want to compose a list of answers to the following questions and be ready to discuss them with your doctor:

  • When did symptoms begin?

  • How severe are the symptoms?

  • Have symptoms been continuous or occasional?

  • Does any specific activity make the symptoms worse?

  • Does anything relieve symptoms?

  • Does pain wake you or your child at night?

  • Is the pain or deformity getting better, staying the same or getting worse?

  • What medications or supplements do you or your child take regularly?

General summary

  1. Fibrous dysplasia is a bone disorder that affects the growth of some bones and the development of bone tissue The condition can produce mild to severe pain A person with fibrous dysplasia usually has short stature as a result of shortening and thickening of long bones including those in the arms or legs (bone abnormalities).

Fibrous dysplasia : Causes-Symptoms-Diagnosis-Treatment

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