Fibrodysplasia Ossificans Progressvia
in a Nine Year Old Boy.

A nine year old boy presented with a five year history of small swellings on his back together with restriction of movements of his neck, deformity of his shoulders and elbows and restricted movement of both upper limbs. He was unable to feed himself or to manage his toilet. His Father reported that his son had developed multiple painful soft swellings over the back of his chest associated with intermittent pyrexia and pain at the age of four years. He also had congenital short great toes.

Fig-1

Fig-2

On examination, there were 2cm x 2cm and 1.5cm x 1cm irregular fixed hard swellings over the inferior angle of his left scapula and the thoracic spine. The skin was healthy and free from the masses. Neck flexion was half the normal and there was no neck extension. lateral flexion 'and rotatory movement in both directions was restricted to about one-third of normal. There was only 50° of passive abduction of his right shoulder and no movement between the scapula and the chest wall. Internal rotation of his right shoulder was 40° and external rotation 20°. His left shoulder had 40° of abduction and internal rotation was 50° with 5° of fixed internal rotation. Scapulo-thoracic movement was nil. left Elbow- 90° extension lag with further flexion to 140°, pronation and supination 10° on each side; Right Elbow- flexion 0°- 80° pronation and supination restricted to 5°. Wrist and finger movements were normal.., All his other joints moved normally with the exception of slight restriction of movements of his thoracolumbar spine. Radiographs of neck and shoulder revealed heterotrophic bone formation. In our patients cervical radiograph shows heterotropic bone formation over the ligamental nuche (Fig. 3 Arrow). A complete blood count and blood chemistry showed no significant abnormalities.

Fig -3 : X-ray cervical spine

Discussion
Fibrodysplasia Ossificans Progressvia is a rare genetic disease where ectopic bone forms In muscles, tendons, ligaments and other soft tissue.

The label of Myositis Ossificans Progressvia was changed in 1970s to Fibrodysplasia Ossificans Progressvia as bridges of bone form across the joints in a characteristic pattern. There is progressive restriction of joint movements. Fibrodysplasia Ossificans Progressvia is a disease in which the body produces extra bone that immobilizes the joints of the body. Children with Fibrodysplasia Ossificans Progressvia appear normal at birth with the exception of congenital short great toes 1. During the 1st or 2nd decade of life painful fibrous nodules appear over the neck, back and shoulders and these gradually ossify.

At present there is no specific treatment or prevention for Fibrodysplasia Ossificans Progressvia. Our patient show all the characteristic features of Fibrodysplasia Ossificans Progressvia in early childhood. The presence of short great toes at birth (Fig.l ) and ectopic bone formation over the back (Fig.2) are typical. The gene or genes that are responsible for fibrodysplasia ossificans progressvia are unknown. But over expression of bone morphogenic protein 4 (BMP 4) and its messenger RNA in cells are detected from patients with Fibrodysplasia Ossificans Progressvia. The gene for BMP 4 has been located in chromosome 14q22-q23 and Fibrodysplasia Ossificans Progressvia is inherited as an autosomal dominant 2.

Genetic engineering is developing fast, there is hope that such diseases which is.obscure will be curable through such maneuvers which are yet to be developed.

REFERENCES
I. Frederic S. Kaplan and Robin M. Smith -Clinical vignette, Fibrodysplasia ossificans progressvia (Fop).
2. Martin Delatychi and John G. Rogers. -The Genetics of Fibrodyspla!tia ossificans Progressvia.