Characteristics of progressive ossifying fibrodysplasia

Progressive ossifying fibrodysplasia is a dominant genetic pathology, that is, it is caused by the mutation of a gene that is transmitted by at least one of the parents.

It is considered a rare disease, because its worldwide prevalence is approximately 2 / 1,000,000. It does not present racial, geographic or gender variations.

Clinical features

Ossification of extraskeletal tissues is produced by outbreaks since childhood. At birth, children suffering from this disease present congenital malformations in the big toes of both feet.

During the first decade of life soft tissues are converted into bone, generating progressive loss of mobility.

The first outbreaks usually occur in areas near the spine (neck and shoulders) and spread to other joints and muscle groups (hip, elbows and knees). Frequently, they are triggered by lesions in the tissue in question, intramuscular injections or viral infections.

The progress of the pathology is progressive and it does not affect the smooth tissue, therefore, the facial muscles, the diaphragm and the heart do not see their functions compromised.


The symptoms of progressive ossifying fibrodysplasia usually begin between four and six years. The evolution of the disease is variable and there are periods of latency and aggravation. Patients suffering from this pathology report the following symptoms:

  • Sprouts of pain and muscular inflammation that end in tissue ossification.
  • Loss of mobility, partial or complete.
  • Development of deafness and baldness in one third of cases.

Some patients present these characteristic features, along with more symptoms not usually associated with this disease, such as:

Outbreaks in ossifying fibrodysplasia

Outbreaks occur when soft tissue ossification begins. During these periods, patients may present with low fever and generalized malaise, in addition to acute pain and swelling.

The duration varies depending on the amount of tissue that is being transformed into bone, although, Generally, they last from seven to nine weeks.

The majority of those affected report relief once the outbreak ends, which leads one to think that the pain is produced by bone formation and not the new tissue formed.

Read more: How to fight muscle pain naturally


The diagnosis of progressive ossifying fibrodysplasia is made by clinical evaluation. Radiographic techniques can confirm more subtle anomalies of specific areas, but it is the genetic tests that confirm the diagnosis.

It is important to make a correct differential diagnosis not to confuse this pathology with another of similar characteristics, such as: progressive bone heteroplasia, lymphedema, osteosarcoma, soft tissue sarcoma or acquired hetertopic ossification.


At present there is no definitive treatment for this disease. However, affected patients must follow a series of preventive guidelines and an adequate pharmacological treatment to alleviate the pain.

In the presence of outbreaks, high doses of corticosteroid drugs are usually administered, in periods of 4 days, starting 24 hours after the start of the outbreak, to reduce inflammation and tissue edema characteristic of these phases.

It is recommended to avoid any traumatism of the muscle through the application of preventive measures against falls and blows: improving the safety of the home, using special protection for physical activities …

Physiotherapy can help reduce the patient's pain, but it must be soft and always directed by a health professional. Also, cryotherapy is usually used to soften the pains of the outbreaks.

Surgical interventions and intramuscular injections must only be performed in cases of maximum need.

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The average life expectancy is approximately 50 years. Most patients lose mobility during the second decade of their lives and die from complications of thoracic insufficiency syndrome.

Currently, the research of treatments for progressive ossifying fibrodysplasia aims to delay ossification of tissues. Clinical trials are being carried out with drugs that, when used in perfusion at the beginning of the outbreaks, could inhibit soft tissue calcification.