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
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.
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.
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.
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.
:
fibrodysplasiaossificansprogressiva
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
