A rare case of Fibrodysplasia ossificans progressive (FOP)

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 Fibrodysplasia Ossificans Progressive (FOP) was first discovered by Guy Patin in 1648 in a young man who was referred as “turned into wood” or sometimes “The Stone Man.

It is a genetic disease, however there is still a little known about the pathophysiology of this disease. Inaccurate diagnosis and treatment plan for Fibrodysplasia Ossificans Progressive (FOP) may lead to permanent injury and may alter the natural prognosis of the disease.

Some patients with FOP may develop the ossification in a very young age and may die from starvation, infections or from respiratory failure (due to ossification of intercostal muscles of the chest).

A PECULIAR CASE REPORTED IN THE HOSPITAL

A 28 years old man with an average build (height of 168 cm and weight of 33.5 cm) was referred to maxillofacial department with progressive ossification of muscles which made the muscles stiff, hard and limited their movements. He told the physician that he had his first symptom as a painless growth of mass on his scapula (wing bone) when he was only 3 years old which was surgically removed but after the surgery he experienced stiffness and limitation in the movement of neck muscles.


Image taken from Iranian Journal of Radiology
(doi:10.5812/iranjradiol.10302)

Now over the next 20 years, his problem was aggravated and there was a restriction in motion and stiffness of knees, jaws, shoulder, hips and neck which made it difficult for him to move freely. On general examination his vitals were normal, whereas musculoskeletal examination showed immobilization of neck, shoulder, hips, spine and jaw.

RADIOLOGICAL FINDINGS

Radiographical findings revealed deposition of calcium on neck, spine, head, shoulder and feet which make them act like a bone instead of a muscular tissue. The radiographic imaging of neck showed ossification of trapezius and complete fusion of all the cervical spines.

Image taken from Iranian Journal of Radiology
(doi:10.5812/iranjradiol.10302)

There was marked ossification noted in mandible (lower law) which made it difficult for him to open the mouth completely. All these finding lead to the diagnosis of a disease known as Fibrodysplasia Ossificans Progressive (FOP).  

HOW IS IT DIAGNOSED?

There are two major criteria used to diagnose FOP, i.e.

  • Malformation of the greater toes.
  • Heterotrophy and ossification of endochondrium

LABORATORY DIAGNOSIS

The laboratory diagnosis of blood may show a huge rise in the ESR count showing the high level of inflammatory process going on in the body. Whereas, all the other blood reports may be completely normal.

IS THERE ANY TREATMENT AVAILABLE?

There is no treatment to combat FOP, however certain medication may provide a limited success such as diphosphonates, which may reduce the calcification and hinder the re-ossification of organs and tissues after any surgical procedure. Many other drugs have also been used but were unsuccessful in treatment.

A HAPPY ENDING?

Many patients end up living a normal life with stable disease but any trauma or injury may result in activation or reactivation of disease thus aggravating the disease. Surgery shall never be performed in the patients of FOP because excision or removal of ectopic and abnormal bone may result in accelerated ossification at the site of operation.

REFERENCE:

Stone Man: A Case Report

(doi: 10.5812/iranjradiol.10302)

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