Department of Rheumatology and Immunology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Nan Li Shi Road No. 56, Beijing, 100045, China.
World J Pediatr. 2020 Feb;16(1):82-88. doi: 10.1007/s12519-019-00302-x. Epub 2019 Sep 16.
Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling heritable connective tissue disease that is difficult to treat. This study seeks to explore the clinical characteristics, clinical manifestations, treatment and prognosis of FOP to provide a clinical basis for its early diagnosis and treatment.
Twenty-six children with FOP were retrospectively analyzed in terms of their onset, clinical manifestations, auxiliary examinations and treatment.
Among the 26 cases, the youngest age of manifestation of mass was 8 days after birth, and the average age was 3 years and 2 months. The peak age was 2-5 years old. Inflammatory mass and toe-finger deformity are the main early clinical manifestations of the disease. These inflammatory masses often lead to hard osteogenic deposits that initially mainly involve the central axis, such as the neck (22/26, 84.6%), back (20/26, 76.9%), and head (13/26, 50%). Toe-finger deformity mainly manifests as symmetrical great toe deformity, or short and deformed thumb and little finger. The diagnosis of FOP requires typical clinical manifestations or ACVR1 gene detection. The main therapeutic drugs for FOP include glucocorticoids and non-steroidal anti-inflammatory drugs. Although not compliant with the recommended medical management of FOP, in our clinical practice children with uncontrollable illness could be treated using a variety of immunosuppressive agents in combination.
FOP is a rare autosomal dominant heritable disease. The main clinical manifestations observed in this study were recurrent inflammatory mass and toe-finger deformity. If the diagnosis and treatment are not performed in a timely manner, serious complications are likely to affect the prognosis. Therefore, early diagnosis and active treatment should be performed.
成骨不全性骨纤维发育异常（FOP）是一种罕见的遗传性结缔组织疾病，具有致残性，且难以治疗。本研究旨在探讨 FOP 的临床特征、临床表现、治疗和预后，为其早期诊断和治疗提供临床依据。
回顾性分析 26 例 FOP 患儿的发病情况、临床表现、辅助检查及治疗情况。
26 例中，最早表现为肿块的年龄为出生后 8 天，平均年龄为 3 岁 2 个月。发病高峰年龄为 2-5 岁。炎症性肿块和指（趾）畸形是疾病的主要早期临床表现。这些炎症性肿块常导致最初主要涉及中轴的坚硬成骨性沉积，如颈部（22/26，84.6%）、背部（20/26，76.9%）和头部（13/26，50%）。指（趾）畸形主要表现为对称性大脚趾畸形，或拇指和小指短而畸形。FOP 的诊断需要典型的临床表现或 ACVR1 基因检测。FOP 的主要治疗药物包括糖皮质激素和非甾体类抗炎药。尽管不符合 FOP 的推荐医疗管理，但在我们的临床实践中，对于无法控制疾病的儿童，可以使用多种免疫抑制剂联合治疗。
FOP 是一种罕见的常染色体显性遗传性疾病。本研究观察到的主要临床表现为复发性炎症性肿块和指（趾）畸形。如果不及时诊断和治疗，可能会出现严重并发症，影响预后。因此，应尽早诊断和积极治疗。
