Sharma Amit, Maini Dhruv, Agarwal Gaurang, Sharma Parul, Maini Lalit
Department of Orthopaedics, Maulana Azad Medical College, Delhi.
Gajra Raja Medical College, Gwalior, India.
Turk J Pediatr. 2019;61(6):958-962. doi: 10.24953/turkjped.2019.06.021.
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.
夏尔马A、梅尼D、阿加瓦尔G、夏尔马P、梅尼L。进行性骨化性纤维发育不良——我们能在一开始就诊断出来吗？《土耳其儿科学杂志》2019年；61: 958 - 962。进行性骨化性纤维发育不良（FOP）是一种罕见的常染色体显性疾病，除了物理治疗和双膦酸盐外，目前尚无确切的治疗方案。由于其最初表现为身体多处肿块，它常被误诊为良性肿瘤，最常见的是骨软骨瘤或奥利尔综合征。诊断延迟不仅会延误治疗，还可能使患者接受不必要的干预。此外，早期诊断还能让患者了解需要采取的预防措施。所以我们的问题是“我们能在一开始就诊断出这种疾病吗”？我们报告一例10岁男孩的病例，他具有FOP的所有典型特征，但仍被误诊。因此，本病例报告突出了这种疾病的典型标志性特征，任何临床医生都能轻易识别，以便尽早做出明确诊断，避免不必要的医源性损伤。
