Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva
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 indu...
| Main Authors: | , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2024-03-01
|
| Series: | Orthopaedic Surgery |
| Subjects: | |
| Online Access: | https://doi.org/10.1111/os.13956 |
| _version_ | 1797266509854146560 |
|---|---|
| author | Longqing Li Minxun Lu Xuanhong He Chang Zou Chuanxi Zheng Yitian Wang Fan Tang Yi Luo Yong Zhou Li Min Chongqi Tu |
| author_facet | Longqing Li Minxun Lu Xuanhong He Chang Zou Chuanxi Zheng Yitian Wang Fan Tang Yi Luo Yong Zhou Li Min Chongqi Tu |
| author_sort | Longqing Li |
| collection | DOAJ |
| description | 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. Case Presentation 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. Conclusion 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. |
| first_indexed | 2024-04-25T01:01:50Z |
| format | Article |
| id | doaj.art-9cf2ffd27bf7421d9d10559c3c421e9d |
| institution | Directory Open Access Journal |
| issn | 1757-7853 1757-7861 |
| language | English |
| last_indexed | 2024-04-25T01:01:50Z |
| publishDate | 2024-03-01 |
| publisher | Wiley |
| record_format | Article |
| series | Orthopaedic Surgery |
| spelling | doaj.art-9cf2ffd27bf7421d9d10559c3c421e9d2024-03-11T02:14:07ZengWileyOrthopaedic Surgery1757-78531757-78612024-03-0116378178710.1111/os.13956Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans ProgressivaLongqing Li0Minxun Lu1Xuanhong He2Chang Zou3Chuanxi Zheng4Yitian Wang5Fan Tang6Yi Luo7Yong Zhou8Li Min9Chongqi Tu10Department of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaDepartment of Orthopedics, Orthopedics Research Institute, West China Hospital Sichuan University Chengdu ChinaBackground 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. Case Presentation 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. Conclusion 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.https://doi.org/10.1111/os.13956ACVR1/ALK2AssociationBone Morphogenetic ProteinFibrodysplasia Ossificans ProgressivaOsteochondromas |
| spellingShingle | Longqing Li Minxun Lu Xuanhong He Chang Zou Chuanxi Zheng Yitian Wang Fan Tang Yi Luo Yong Zhou Li Min Chongqi Tu Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva Orthopaedic Surgery ACVR1/ALK2 Association Bone Morphogenetic Protein Fibrodysplasia Ossificans Progressiva Osteochondromas |
| title | Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva |
| title_full | Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva |
| title_fullStr | Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva |
| title_full_unstemmed | Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva |
| title_short | Pay Attention to the Osteochondromas in Fibrodysplasia Ossificans Progressiva |
| title_sort | pay attention to the osteochondromas in fibrodysplasia ossificans progressiva |
| topic | ACVR1/ALK2 Association Bone Morphogenetic Protein Fibrodysplasia Ossificans Progressiva Osteochondromas |
| url | https://doi.org/10.1111/os.13956 |
| work_keys_str_mv | AT longqingli payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT minxunlu payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT xuanhonghe payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT changzou payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT chuanxizheng payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT yitianwang payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT fantang payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT yiluo payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT yongzhou payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT limin payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva AT chongqitu payattentiontotheosteochondromasinfibrodysplasiaossificansprogressiva |