This preprint is under consideration at Pediatric Rheumatology. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
Case Report
Yeong Wook Song
Seoul National University Hospital Department of Internal Medicine
Corresponding Author
ORCiD: https://orcid.org/0000-0002-5384-3437
License:
This work is licensed under a CC BY 4.0 License. Read Full License
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 patient’s 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.
Keywords
Dermatomyositis, central core disease, congenital myopathy
Figure 1
Figure 2
Figure 3
Loading...
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 18 Jan, 2021
No community comments so far
Editorial decision: Minor revision
On 29 Mar, 2021
Review #4 received
Received 20 Mar, 2021
Reviewer #6 agreed
On 15 Mar, 2021
Review #6 received
Received 15 Mar, 2021
Reviewer #5 agreed
On 12 Mar, 2021
Review #5 received
Received 12 Mar, 2021
Review #3 received
Received 09 Mar, 2021
Review #2 received
Received 08 Mar, 2021
Reviewer #4 agreed
On 27 Feb, 2021
Reviewer #3 agreed
On 23 Feb, 2021
Reviewer #2 agreed
On 22 Feb, 2021
Reviewer #1 agreed
On 21 Feb, 2021
Review #1 received
Received 21 Feb, 2021
Reviewers invited
Invitations sent on 20 Feb, 2021
First submitted
On 11 Jan, 2021
Editor assigned
On 11 Jan, 2021
Submission checks complete
On 11 Jan, 2021
Editor invited
On 11 Jan, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Learn more about our company.
A new preprint design is coming!
We have improved readability, clarity, accessibility, and opportunities for engagement.
This preprint is under consideration at Pediatric Rheumatology. A preprint is a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Case Report
Yeong Wook Song
Seoul National University Hospital Department of Internal Medicine
Corresponding Author
ORCiD: https://orcid.org/0000-0002-5384-3437
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Under Review
Version 1
Posted 18 Jan, 2021
No community comments so far
Editorial decision: Minor revision
On 29 Mar, 2021
Review #4 received
Received 20 Mar, 2021
Reviewer #6 agreed
On 15 Mar, 2021
Review #6 received
Received 15 Mar, 2021
Reviewer #5 agreed
On 12 Mar, 2021
Review #5 received
Received 12 Mar, 2021
Review #3 received
Received 09 Mar, 2021
Review #2 received
Received 08 Mar, 2021
Reviewer #4 agreed
On 27 Feb, 2021
Reviewer #3 agreed
On 23 Feb, 2021
Reviewer #2 agreed
On 22 Feb, 2021
Reviewer #1 agreed
On 21 Feb, 2021
Review #1 received
Received 21 Feb, 2021
Reviewers invited
Invitations sent on 20 Feb, 2021
First submitted
On 11 Jan, 2021
Editor assigned
On 11 Jan, 2021
Submission checks complete
On 11 Jan, 2021
Editor invited
On 11 Jan, 2021
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
License:
This work is licensed under a CC BY 4.0 License. Read Full License
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 patient’s 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.
Figure 1
Figure 2
Figure 3
Loading...