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A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease
DC Field | Value | Language |
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dc.contributor.author | Kim, Min Jung | - |
dc.contributor.author | Kim, Mi Hyeon | - |
dc.contributor.author | Park, Sung-Hye | - |
dc.contributor.author | Song, Yeong Wook | - |
dc.date.accessioned | 2021-08-19T07:25:49Z | - |
dc.date.available | 2021-08-19T16:27:07Z | - |
dc.date.issued | 2021-06-30 | - |
dc.identifier.citation | Pediatric Rheumatology. 2021 Jun 30;19(1):100 | ko_KR |
dc.identifier.issn | 1546-0096 | - |
dc.identifier.uri | https://hdl.handle.net/10371/174803 | - |
dc.description.abstract | Background
Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis and excitation-contraction coupling. To date, CCD has not been reported to have autoantibodies or coexist with inflammatory myopathy. Case presentation Here, we described the case of a 25-year-old woman who had progressive proximal muscle weakness, myalgia, pruritic macular rash, skin ulcers, and calcinosis. Dermatomyositis was initially suspected based on the clinical symptoms accompanied by elevated muscle enzyme levels, electromyography abnormalities, and a positive antinuclear antibody test. However, the patients muscle biopsy revealed the characteristic findings of both dermatomyositis and CCD, suggesting that dermatomyositis occurred in this patient with previously asymptomatic CCD. The patient did not have any pathogenic gene mutations associated with congenital myopathy, including RYR1 and SEPN1 in targeted next-generation sequencing. She received high-dose glucocorticoid therapy and azathioprine with a significant improvement in muscle strength. Conclusions We present a case of rare coexistence of dermatomyositis and CCD. Clinicians should be aware that patients with CCD may have inflammatory myopathy that responds well to immunosuppressive therapy. | ko_KR |
dc.description.sponsorship | This study was funded by a grant from the Ministry of Science, ICT, and Future Planning (NRF-2020M3E5E2037430 to Y-W.S.). | ko_KR |
dc.language.iso | en | ko_KR |
dc.publisher | BMC | ko_KR |
dc.subject | Dermatomyositis | - |
dc.subject | Central core disease | - |
dc.subject | Congenital myopathy | - |
dc.title | A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease | ko_KR |
dc.type | Article | ko_KR |
dc.contributor.AlternativeAuthor | 김민정 | - |
dc.contributor.AlternativeAuthor | 김미현 | - |
dc.contributor.AlternativeAuthor | 박성혜 | - |
dc.contributor.AlternativeAuthor | 송영욱 | - |
dc.identifier.doi | 10.1186/s12969-021-00598-y | - |
dc.citation.journaltitle | Pediatric Rheumatology. | ko_KR |
dc.language.rfc3066 | en | - |
dc.rights.holder | The Author(s) | - |
dc.date.updated | 2021-07-04T03:21:02Z | - |
dc.citation.number | 1 | ko_KR |
dc.citation.startpage | 100 | ko_KR |
dc.citation.volume | 19 | ko_KR |
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