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Abstract：
BACKGROUND: Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease characterized by malformation of the bilateral great toes and progressive heterotopic ossification. The clinical features of FOP occur due to dysfunction of the bone morphogenetic protein (BMP) signaling pathway induced by the mutant activin A type I receptor/activin-like kinase-2 (ACVR1/ALK2) which contributes to the clinical features in FOP. Dysregulation of the BMP signaling pathway causes the development of osteochondroma. Poor awareness of the association between FOP and osteochondromas always results in misdiagnosis and unnecessary invasive operation.
METHODS: In this study, we present a case of classical FOP involving osteochondroma. An 18-year-old male adolescent, born with deformity of bilateral big toes, complained multiple masses on his back for 1 year. The mass initially emerged with a tough texture and did not cause pain. It was misdiagnosed as an osteochondroma. After two surgeries, the masses became hard and spread around the entire back region. Meanwhile, extensive heterotopic ossification was observed around the back, neck, hip, knee, ribs, and mandible during follow-up. Osteochondromas were observed around the bilateral knees. No abnormalities were observed in the laboratory blood test results. Whole exome sequencing revealed missense mutation of ACVR1/ALK2 (c.617G > A; p.R206H) in the patient and confirmed the diagnosis of FOP.
CONCLUSIONS: In summary, classical FOP always behaves as a bilateral deformity of the big toes, as well as progressive ectopic ossification and osteochondromas in the distal femur and proximal tibia. An understanding of the association between osteochondromas and FOP aids in diagnosis and avoids unnecessary invasive management in patients.
METHODS: In this study, we present a case of classical FOP involving osteochondroma. An 18-year-old male adolescent, born with deformity of bilateral big toes, complained multiple masses on his back for 1 year. The mass initially emerged with a tough texture and did not cause pain. It was misdiagnosed as an osteochondroma. After two surgeries, the masses became hard and spread around the entire back region. Meanwhile, extensive heterotopic ossification was observed around the back, neck, hip, knee, ribs, and mandible during follow-up. Osteochondromas were observed around the bilateral knees. No abnormalities were observed in the laboratory blood test results. Whole exome sequencing revealed missense mutation of ACVR1/ALK2 (c.617G > A; p.R206H) in the patient and confirmed the diagnosis of FOP.
CONCLUSIONS: In summary, classical FOP always behaves as a bilateral deformity of the big toes, as well as progressive ectopic ossification and osteochondromas in the distal femur and proximal tibia. An understanding of the association between osteochondromas and FOP aids in diagnosis and avoids unnecessary invasive management in patients.
摘要：
背景：进行性骨化性纤维发育不良（FOP）是一种极其罕见的疾病，其特征是双侧大脚趾畸形和进行性异位骨化。FOP的临床特征是由于突变的激活素AI型受体/激活素样激酶2（ACVR1/ALK2）诱导的骨形态发生蛋白（BMP）信号通路的功能障碍而发生的，这有助于FOP的临床特征。BMP信号通路的失调导致骨软骨瘤的发展。对FOP与骨软骨瘤之间关系的认识不足总是导致误诊和不必要的侵入性手术。
方法：在本研究中，我们介绍一例涉及骨软骨瘤的经典FOP。一个18岁的男性青少年,出生时双侧大脚趾畸形，抱怨他背上的多个肿块长达1年。肿块最初出现时质地坚韧，不会引起疼痛。误诊为骨软骨瘤。经过两次手术,群众变得坚硬，并散布在整个后部地区。同时,在背部周围观察到广泛的异位骨化，脖子,臀部,膝盖,肋骨,随访期间下颌骨。双侧膝关节周围观察到骨软骨瘤。实验室血液检查结果未发现异常。全外显子组测序显示患者ACVR1/ALK2发生错义突变(c.617G>A;p.R206H),确诊为FOP。
结论：总之，经典的FOP总是表现为大脚趾的双侧畸形，以及股骨远端和胫骨近端进行性异位骨化和骨软骨瘤。了解骨软骨瘤和FOP之间的关联有助于诊断，并避免对患者进行不必要的侵入性管理。
方法：在本研究中，我们介绍一例涉及骨软骨瘤的经典FOP。一个18岁的男性青少年,出生时双侧大脚趾畸形，抱怨他背上的多个肿块长达1年。肿块最初出现时质地坚韧，不会引起疼痛。误诊为骨软骨瘤。经过两次手术,群众变得坚硬，并散布在整个后部地区。同时,在背部周围观察到广泛的异位骨化，脖子,臀部,膝盖,肋骨,随访期间下颌骨。双侧膝关节周围观察到骨软骨瘤。实验室血液检查结果未发现异常。全外显子组测序显示患者ACVR1/ALK2发生错义突变(c.617G>A;p.R206H),确诊为FOP。
结论：总之，经典的FOP总是表现为大脚趾的双侧畸形，以及股骨远端和胫骨近端进行性异位骨化和骨软骨瘤。了解骨软骨瘤和FOP之间的关联有助于诊断，并避免对患者进行不必要的侵入性管理。
