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

摘要

Sharma A, Maini D, Agarwal G, Sharma P, Maini L. Fibrodysplasia ossificans progressiva - can we diagnose it right at the outset? Turk J Pediatr 2019; 61: 958-962. Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder with no definitive treatment options available yet, except for physiotherapy and bisphosphonates. Due to its initial presentation with multiple lumps in the body, it is often misdiagnosed as a benign tumour most commonly being an osteochondroma or Olliers syndrome. Delay in diagnosis not only delays the management but can also expose the patient to unnecessary interventions. Moreover, earlier diagnosis can also make the patient aware of the precautions to be taken. So our remark is `can we diagnose this disease right at the outset`? We present a case of a 10 year old boy, who had all the classical features of FOP yet was misdiagnosed. Therefore, classical hallmark features of this disease are highlighted in this case report which can be picked up easily by any clinician to reach to a definitive diagnosis as early as possible avoiding unnecessary iatrogenic insult.