Fibrous Dysplasia | Bone Disease

What is Fibrous Dysplasia?

It is a disease in which certain bones – most commonly in the skull, legs and arms – become enlarged and swollen. This can then result in further complications and prolonged medical conditions. Fibrous dysplasia occurs equally amongst men and women and is mostly seen to affect children and teenagers. Although it is not possible to cure a patient, the symptoms can be ameliorated with certain treatments.

The Symptoms

Symptoms commonly include an altered way of walking, in that the patient is usually not able to balance effectively. Some patients also complain of pain in the affected areas, due to the fact that the enlarged bones sometimes squeeze a nearby nerve. In certain cases, it can permanently alter the shape of the affected bone and render the patient increasingly susceptible to injury and fracture. It has also been known to result in the onset of other bone-related diseases – such as rickets and arthritis. If fibrous dysplasia is affecting the skull, the change in shape of the bones may result in vision problems, as well as complications with the other senses.

Types

It  can be sub-categorized into three separate diseases: monostotic fibrous dysplasia, polyostotic fibrous dysplasia and McCube-Albright syndrome. The most common of these (affecting about 70% of patients) is monostotic fibrous dysplasia, which affects just one bone in the body, most commonly in the skull. When the disease affects more than one bone it is classed as polyostotic fibrous dysplasia. Approximately 20% of patients are diagnosed with polyostotic fibrous dysplasia. The other 10% of patients are diagnosed with McCune-Albright syndrome – which is most commonly associated with instabilities in hormone levels and alterations in skin pigmentation. The 20% of patients with polyostotic fibrous dysplasia are more likely to develop McCune-Albright syndrome. Symptoms of the latter include overactive glands (in particular the pituitary, parathyroid and thyroid gland), changes in skin pigmentation and early arrival of puberty.

Possible Causes

The causes are not entirely understood, but its roots seem to lie in a genetic abnormality that changes the rate at which tissue in certain bones grow. Some studies have indicated that it is not hereditary, but rather that the gene responsible undergoes a mutation before birth.

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