Monostotic fibrous dysplasia

Monostotic fibrous dysplasia is a rare bone disease characterized by the replacement of medullary bone with fibrous tissue, causing the expansion and weakening of the areas of the skeleton where it occurs. It is a type of fibrous dysplasia of bone, and is the most common form, accounting for about 70% of all cases.

Signs and Symptoms

Patients with monostotic fibrous dysplasia usually present with painless bony swelling. The disease is often asymptomatic and is discovered incidentally on radiographs. When symptoms do occur, they are often mild and nonspecific, including bone pain, bone deformity, and pathological fractures.

Causes

Monostotic fibrous dysplasia is caused by a mutation in the GNAS1 gene, which leads to overproduction of fibrous tissue in the bone. This mutation is not inherited, but occurs randomly during a person's lifetime.

Diagnosis

Diagnosis of monostotic fibrous dysplasia is typically made based on the characteristic appearance of the affected bone on radiographs. Additional imaging studies, such as CT or MRI, may be used to further evaluate the extent of the disease. A biopsy of the affected bone may also be performed to confirm the diagnosis.

Treatment

There is currently no cure for monostotic fibrous dysplasia. Treatment is aimed at managing symptoms and preventing complications. This may include pain management, physical therapy, and in some cases, surgical intervention to correct bone deformities or stabilize fractures.

Prognosis

The prognosis for individuals with monostotic fibrous dysplasia is generally good. The disease is typically slow-growing and does not spread to other bones. However, it can cause significant morbidity due to bone pain, deformity, and fractures.

See Also

• Polyostotic fibrous dysplasia
• McCune-Albright syndrome
• GNAS1

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