Fibrous Dysplasia

Fibrous Dysplasia Definition

It is a bone disorder that is characterized by various abnormalities such as development of fibrous (scar-like) tissues in place of normal, healthy bone. The condition is usually detected in adolescents and young adults.

The condition is regarded as a developmental disease of maxilla that involves formation of immaturely woven bone from abnormal fibrous tissue.

Fibrous Dysplasia Types

This bone disease is categorized into two types:

Monostotic Fibrous Dysplasia

In this condition, only one bone is affected due to deposition of scar tissues. Around 70% cases of FD are of this type.

Polyostotic Fibrous Dysplasia

This condition affects more than one bone. It is frequently associated with McCune-Albright Syndrome (MAS), which is its most severe form, and may result in early puberty or skin lesions along with Bone Dysplasia.

Craniofacial Fibrous Dysplasia

It is a type of FD that, as the name suggests, involves the bones of the skull and facial region. These bones are affected in up to 10-15% cases of Monostotic FD and around 50% cases of Polyostotic FD. Craniofacial FD is usually characterized by:

• Facial deformity
• Cranial asymmetry
• Proptosis
• Unilateral blindness or visual impairment
• Nasal stuffiness

Fibrous Dysplasia Of Mandible

It is an abnormal manifestation of Monostotic FD that is generally benign in nature. It arises in young adults and is characterized by pain in bone and in worse cases, intraoral exposure of bone. It is successfully managed by reconstruction, resection, debridement or curettage. In many cases however, immediate reconstruction and total excision is found to offer the best results.

Fibrous Dysplasia Symptoms

Usually, individuals affected by monostotic type of this disease do not exhibit any symptoms. Symptoms may occur when multiple bones are affected. In such cases, the main symptoms of Fibrous Dysplasia are:

• Growth of fibrous tissues instead of bones
• Thinning of bones
• Development of lesions or sores in single or multiple bones
• Formation of scars within the bone
• Progressive weakness in scarred bone, causing
• Pain in bone
• Problems in endocrine gland
• Abnormal skin pigmentation

This condition primarily affects bones in regions like ribs, face and skull. Tibia, femur, pelvic bones and the humerus of the upper arm are also affected by this disorder. Usually, the problems start to develop in early childhood, often before the age of ten. Patients may also have difficulties in walking if the tibia or the pelvic or thigh bones are involved. Bones scarred and affected by this condition are highly susceptible to fractures or deformities. Fortunately, the development of new lesions on bones may stop once a child attains puberty.

Fibrous Dysplasia Causes

The condition results from a mutation in a gene known as GNAS1, which is found to be active in cells of the bone. The mutation leads the bone cells to deposit fibrous tissue instead of healthy bones. However, this is not a hereditary disease. Unlike many other genetic conditions, the mutation in this case happens in a spontaneous manner during fetal development.

Fibrous Dysplasia Diagnosis

The initial diagnosis of fibrous bone dysplasia is generally conducted by depending on the symptoms exhibited, such as recurrent bone fractures and bone pain. Medical imaging tests like MRI scans and X-rays can confirm the diagnosis and exactly identify the location of affected bone tissue. These may also help diagnose any bone deformities that may have developed.

If patients are suspected of endocrine disorders, they may be screened as needed.

Fibrous Dysplasia Treatment

Presently, there is an absence of any complete curative method for this condition. This is seen as a chronic, progressive disease without any treatment. However, certain medical procedures are adopted to provide FD sufferers with relief from the extremely discomforting symptoms arising due to this disease.

In case patients are suspected of this disorder but do not exhibit any symptoms, they have to undergo regular check-ups. This will help diagnose of any early signs of bone deformity. In such events, cure is unnecessary unless the symptoms of the disorder begin to arise.

Treatment for Fibrous dysplasia involves use of both medications and surgical methods.

Fibrous Dysplasia Medications

FD is usually treated with drugs like Alendronate and Pamidronate. These are available in the market under the brand names Fosamax and Aredia. The medicines increase bone density in some patients and maintain healthy bone tissue. Most sufferers take these medications orally. Individuals who are found to suffer from gastrointestinal irritation due to oral intake of the drugs are administered with intravenous injections of the same.

Fibrous Dysplasia Surgery

Surgical treatment for this disorder involves repairing severe cracks and fractures in bone and correction of bone deformities. Deformities in bone may also be prevented by internally stabilizing vulnerable bones with the aid of metal support structures like plates and screws. However, surgical intervention is less frequently needed for correcting this condition.

Fibrous Dysplasia Prognosis

The outcome of this disorder depends on the seriousness of the condition as well as the symptoms that arise in patients. Generally, the prognosis is found to be good. However, results are often found to be poor in younger patients as well as those suffering from polyostotic forms of the condition. There is low risk of the disease undergoing a malignant transformation in future.

Fibrous Dysplasia Pictures

Here are some useful Fibrous Dysplasia images that will provide you with visual reference about the condition. Check out these pictures of Fibrous Dysplasia to know how bone deformities associated with this disorder appear to view.

Picture 1 – Fibrous Dysplasia

Picture 2 – Fibrous Dysplasia Photo

Fibrous Dysplasia Foundation

Also known as The FD Foundation, it is a worldwide, non-profit organization that works as a support group for Fibrous Dysplasia sufferers. This charitable establishment comprises of volunteers who aim to provide information, support and advocacy to FD patients, healthcare providers and the general public. The organization also promotes research for the diagnosis and cure for FD and MAS as well as other associated conditions like Cherubism.

If you find your child developing symptoms of this disorder such as unexplained bone deformity and repeated bone fractures, do not panic. Get in touch with a professional healthcare provider and get expert guidance regarding diagnosis and treatment. The earlier you seek medical attention, the faster will your child be able to achieve recovery.

References:

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002214/

http://emedicine.medscape.com/article/389714-overview

http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991

http://radiopaedia.org/articles/craniofacial-fibrous-dysplasia