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Fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare connective tissue disease. The disease is caused by a mutation of the body’s repair mechanism, which causes fibrous tissue to be ossified spontaneously or when damaged. In many cases, injuries can cause joints to become permanently frozen in place.

FOP Symptoms

  Fibrodysplasia ossificans progressiva often begins in the neck and shoulders and progresses along the back, trunk, and limbs of the body. In addition, malformed big toes are always associated with the condition and can be observed at birth. The most common malformation associated with FOP is a shortened great toe with a malformed distal first metatarsal and a missing or abnormal interphalangeal joint. Progressive bone formation in areas of the body where bone is not normally present usually occurs during early childhood, but can occur during adolescence, early adulthood, or throughout life. The abnormal development of bone may occur spontaneously, but most commonly follows an episode of soft tissue injury or a viral illness.

Causes of FOP

  Most cases of FOP occur sporadically. Where a familial pattern has been identified, FOP is inherited as an autosomal dominant trait with complete penetrance. Bone morphogenetic proteins are regulatory proteins involved in the embryonic formation and after-birth (post-natal) repair of the skeleton. The gene identified as the FOP gene encodes a BMP receptor called Activin Receptor Type IA, or ACVR1, one of four known BMP Type I receptors. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease.

The Girl Who Turned to Bone

  When Peeper’s mother noticed that the baby couldn’t open her mouth as wide as her sisters and brothers, she took her to the first of various doctors, seeking an explanation for her seemingly random assortment of symptoms. They should just take me home and enjoy their time with me, because I would probably not live to be a teenager. Starting in the 1980s, Peeper built a network of people with FOP. She is now connected to more than 500 people with her condition a sizable fraction of all the people on Earth who suffer from it. Fibrodysplasia Ossificans Treatment
  1. Medical Care

      Fibrodysplasia ossificans progressiva should be diagnosed during the neonatal period. Early treatment of fibrodysplasia ossificans progressiva helps avoid the factors of aggravation, slow the progression of the disease, and provide the children with improved quality of life. Gene therapy may hold promise in fibrodysplasia ossificans progressiva treatment.
  2. Surgical Care

      Patients with fibrodysplasia ossificans, a rare disorder, may require oral surgical and anesthetic procedures to control oral pain. The importance of a minimally invasive surgical technique and appropriate anesthetic management has been stressed.
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