Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report
Abstract Background Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarit...
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| Format: | Article |
| Language: | English |
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BMC
2018-02-01
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| Series: | BMC Medical Genetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s12881-018-0543-7 |
| _version_ | 1818616570542292992 |
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| author | Shengjie Tian Jianhua Zhu Yaogang Lu |
| author_facet | Shengjie Tian Jianhua Zhu Yaogang Lu |
| author_sort | Shengjie Tian |
| collection | DOAJ |
| description | Abstract Background Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarity of the disease makes it common to make a misdiagnosis and cause mismanagement. Case presentation We reported a case of a sixteen-year-old male patient who had suffered from pain and swelling in the biopsy site for two months. His physical examination presented serious stiffness and multiple bony masses in the body, with his bilateral halluces characterized by hallux valgus deformity and macrodactyly. Imaging examinations showed widespread heterotopic ossification. All laboratory blood tests were normal except for the one on alkaline phosphatase. A de novo heterozygous mutation (c.617G > A; p.R206H) were found in the ACVR1/ALK2 using gene sequencing. Conclusion Even though FOP is a rare disorder of genetic origin, which is generally misdiagnosed, the genetic analysis could provide definitive confirmation of the disease. Awareness of such an important approach can help clinicians to avoid the commonly practiced misdiagnosis and mismanagement of the rare disease. |
| first_indexed | 2024-12-16T16:51:54Z |
| format | Article |
| id | doaj.art-0104bb7a57f0418bbb816f17780b52b7 |
| institution | Directory Open Access Journal |
| issn | 1471-2350 |
| language | English |
| last_indexed | 2024-12-16T16:51:54Z |
| publishDate | 2018-02-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genetics |
| spelling | doaj.art-0104bb7a57f0418bbb816f17780b52b72022-12-21T22:23:59ZengBMCBMC Medical Genetics1471-23502018-02-011911510.1186/s12881-018-0543-7Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case reportShengjie Tian0Jianhua Zhu1Yaogang Lu2Department of Emergency Traumatic Surgery, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu HospitalDepartment of Emergency Traumatic Surgery, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu HospitalDepartment of Emergency Traumatic Surgery, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu HospitalAbstract Background Fibrodysplasia ossificans progressiva (FOP), an ultra-rare and disabling genetic disorder of skeletal malformations and progressive heterotopic ossification, is caused by heterozygous activating mutations in activin A receptor, type I/activin-like kinase 2 (ACVR1/ALK2). The rarity of the disease makes it common to make a misdiagnosis and cause mismanagement. Case presentation We reported a case of a sixteen-year-old male patient who had suffered from pain and swelling in the biopsy site for two months. His physical examination presented serious stiffness and multiple bony masses in the body, with his bilateral halluces characterized by hallux valgus deformity and macrodactyly. Imaging examinations showed widespread heterotopic ossification. All laboratory blood tests were normal except for the one on alkaline phosphatase. A de novo heterozygous mutation (c.617G > A; p.R206H) were found in the ACVR1/ALK2 using gene sequencing. Conclusion Even though FOP is a rare disorder of genetic origin, which is generally misdiagnosed, the genetic analysis could provide definitive confirmation of the disease. Awareness of such an important approach can help clinicians to avoid the commonly practiced misdiagnosis and mismanagement of the rare disease.http://link.springer.com/article/10.1186/s12881-018-0543-7Fibrodysplasia ossificans progressiveDNA sequenceCase report |
| spellingShingle | Shengjie Tian Jianhua Zhu Yaogang Lu Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report BMC Medical Genetics Fibrodysplasia ossificans progressive DNA sequence Case report |
| title | Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report |
| title_full | Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report |
| title_fullStr | Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report |
| title_full_unstemmed | Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report |
| title_short | Difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva: a case report |
| title_sort | difficult diagnosis and genetic analysis of fibrodysplasia ossificans progressiva a case report |
| topic | Fibrodysplasia ossificans progressive DNA sequence Case report |
| url | http://link.springer.com/article/10.1186/s12881-018-0543-7 |
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