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Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva Causes

The underlying cause of fibrodysplasia ossificans progressive is srill largely unknown. It is simply an autosomal dominant disorder that comes with the complete penetration but with some variable gene expressivity.

Fibrodysplasia ossificans progressiva Definition

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare as well as severely disabling type of autosomal dominant disease that is largely characterized by a series of recurrent painful episodes that involves soft tissue swelling along with the growth of tumors in muscle tissue and subcutis. These lesions would often lead to heterotopic ossification, which is true bone tissue development in the ligaments, axial musculature the fascia, the tendons, the aponeurosis, and the joint capsules

Fibrodysplasia ossificans progressiva Diagnosis

Fibrodysplasia ossificans progressive is usually diagnosed early on during the neonatal stage. Laboratory tests include checking the levels of alkaline phosphatase, biochemical studies, along with CT scans and bone scintigraph.

Fibrodysplasia ossificans progressiva Symptoms and Signs

Symptoms include lesions that are characterized as tender, very painful soft and rubbery tissue indurations that are usually precipitated by trauma. These lesions usually develop along the paraspinal muscles of the limb girdles and back. Symptoms may also include restricted mobility and deformations and may sometimes be associated with deafness and alopecia.

Fibrodysplasia ossificans progressiva Treatment

Treatment for fibrodysplasia ossificans progressive primarily involves avoiding aggravators as well as slows the progression of the disease and improving the quality of life of the patients. Systemic steroids are usually administered during some acute flare-ups.

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