Fibrodysplasia ossificans progressiva – can we diagnose it right at the outset?

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominantdisorder with no definitive treatment options available yet, except forphysiotherapy and bisphosphonates. Due to its initial presentation withmultiple lumps in the body, it is often misdiagnosed as a benign tumour mostcommonly being an osteochondroma or Olliers syndrome. Delay in diagnosisnot only delays the management but can also expose the patient to unnecessaryinterventions. Moreover, earlier diagnosis can also make the patient aware ofthe precautions to be taken. So our remark is “can we diagnose this diseaseright at the outset”? We present a case of a 10 year old boy, who had all theclassical features of FOP yet was misdiagnosed. Therefore, classical hallmarkfeatures of this disease are highlighted in this case report which can be pickedup easily by any clinician to reach to a definitive diagnosis as early as possibleavoiding unnecessary iatrogenic insult.