Hashemi J, Shahfarhat A, Beheshtian A
Associate Professor, Department of Radiology, Imam Reza hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Iran J Radiol. 2011 Sep;8(2):113-7. Epub 2011 Sep 25.
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder, characterized by painful swelling of muscles and connective tissue in the early years of life, consequently leading to ossification at a mean age of 4-5 years. We report FOP in a 2-year-old boy with palpable masses in the frontal and lower cervical paraspinal and left periscapular muscles.He was born with hallux valgus. Despite this hallmark, he was referred to the hospital with the primary diagnosis of hematoma, but further investigation indicated FOP. The patient was discharged from the hospital with non steroidal anti-inflammatory drugs (NSAID) and education of the parents. The importance of this case was that in spite of the early occurrence of the typical presentation of FOP for more than one year and the fact that the patient's mother was a physician who had consulted with many specialists, the diagnosis had been missed.This indicates that the general physicians, radiologists and other specialists' awareness and knowledge of FOP is insufficient.
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，其特征是在生命早期肌肉和结缔组织出现疼痛性肿胀，随后在平均4至5岁时导致骨化。我们报告了一名2岁男孩患有FOP，其额部、下颈部椎旁和左肩胛周围肌肉可触及肿块。他出生时患有拇外翻。尽管有这个特征性表现，但他因血肿的初步诊断被转诊至医院，不过进一步检查显示为FOP。患者出院时带了非甾体类抗炎药（NSAID）并对其父母进行了教育。该病例的重要性在于，尽管FOP典型表现已早期出现一年多，且患者母亲是一名咨询过许多专家的医生，但诊断仍被漏诊。这表明普通内科医生、放射科医生和其他专家对FOP的认识和了解不足。
