Fibrodysplasia Ossificans...

A 5 year old female child , second child born of non consanguineous marriage presented with pain and swelling over bilateral upper chest, back, right lateral aspect of neck and right elbow for last 20 days. There was history of similar episodes in the past. On examination child was hemodynamically stable with swelling and tenderness present on lateral wall of chest on both sides and back associated with indurated redness of the overlying skin. There was also swelling and tenderness of right elbow with local rise of temperature. This was associated with restriction of movement at both shoulder joint and right elbow joint. Ultrasound done was suggestive of inflammatory changes in the anterior chest wall involving skin, subcutaneous tissue and muscular planes and CT chest done was suggestive of inflammatory myopathy with fatty atrophy. Child was initially kept as a case myositis with cellulitis although inflammatory markers were negative. A possibility of polymyositis was also kept in mind and workup done in which ANA profile was negative and eye evaluation was normal. As the inflammation subsided it was noticed that the restriction of movement increased instead of improving and plain radiograph showed extraskeletal ossification. On further evaluation child was found to have short bilateral first metatarsal which on plain radiograph of bilateral foot showed only one phalanx of the great toe. Based on these findings child was now thought to be a rare case of Fibrodysplasia Ossificans Progressiva and genetic workup for the same sent which confirmed mutation of ACVR1 gene on exon 6. The child was then managed with analgesics and oral prednisolone and parents were counselled regarding the nature of disease and its future implications and to visit a doctor at first sign of trauma or inflammation to start  is the key to prevent harm to the patient and timely diagnosis and adequate