Zaghloul Kareem A, Heuer Gregory G, Guttenberg Marta D, Shore Eileen M, Kaplan Frederick S, Storm Phillip B
Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
J Neurosurg Pediatr. 2008 Jan;1(1):91-4. doi: 10.3171/PED-08/01/091.
Fibrodysplasia ossificans progressiva (FOP) is a rare, autosomal dominant disorder characterized by congenital malformation of the great toes and episodes of soft tissue swelling that lead to progressive heterotopic ossification. The genetic cause of FOP was recently discovered to be a recurrent missense activating mutation in the activin A type I receptor, a bone morphogenetic protein type I receptor in all classically affected individuals worldwide. The authors present a child with the classic features of previously undiagnosed FOP who developed a paraspinal soft-tissue mass after a lumbar puncture for a fever workup. Excision of the mass resulted in a massive inflammatory response leading to progression of heterotopic ossification. Awareness of the classic clinical features of FOP prior to the appearance of heterotopic ossification can prompt early clinical diagnosis and confirmation through genetic testing, thus avoiding interventions that lead to irreversible iatrogenic harm.
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，其特征为大脚趾先天性畸形以及软组织肿胀发作，进而导致进行性异位骨化。最近发现，在全球所有典型受累个体中，FOP的遗传病因是激活素A I型受体（一种骨形态发生蛋白I型受体）中反复出现的错义激活突变。作者报告了一名具有此前未被诊断出的FOP典型特征的儿童，该儿童在因发热检查进行腰椎穿刺后出现了椎旁软组织肿块。肿块切除引发了大规模炎症反应，导致异位骨化进展。在异位骨化出现之前，了解FOP的典型临床特征可促使早期临床诊断并通过基因检测加以确诊，从而避免导致不可逆转医源性损害的干预措施。
