Anti-fibrillarin Positive Systemic Sclerosis Presenting With Myositis and Perimyocarditis
- 1General Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, GBR
- 2General Medicine, Southampton General Hospital, Southampton, GBR
Abstract
A 45-year-old man with no significant past medical history presented with six months of progressive proximal muscle weakness, inflammatory arthralgia, and functional decline, on a background of two years of progressive depigmented pruritic skin lesions. Examination demonstrated widespread hypopigmented sclerotic skin changes, sclerodactyly, and digital ulceration. Investigations revealed mildly elevated creatine kinase (CK) and cardiac biomarkers, with cardiac magnetic resonance imaging (MRI) demonstrating perimyocarditis and thigh MRI showing symmetrical muscle oedema consistent with inflammatory myopathy.
Skin biopsy demonstrated dermal fibrosis while serology was positive for anti-fibrillarin antibodies. A diagnosis of anti-fibrillarin-positive systemic sclerosis with inflammatory myositis was made. Treatment with low-dose prednisolone and colchicine resulted in clinical improvement, with mycophenolate mofetil (MMF) planned as a steroid-sparing agent. Initiation was delayed following a positive QuantiFERON-TB (QIAGEN GmbH, Hilden, Germany) test requiring management of latent tuberculosis (TB). This case highlights the diagnostic complexity of anti-fibrillarin-positive systemic sclerosis presenting with simultaneous muscular and cardiac involvement and emphasises the importance of early recognition of multisystem disease.
Related
- Systemic Sclerosis Presenting With Long-Standing Peripheral Neuropathy and Delayed Multisystem Manifestations: A Case Report
- Disseminated Ureaplasma urealyticum infection presenting as systemic inflammatory syndrome in ocrelizumab-treated patients with multiple sclerosis: a case series.
- Sudden Cardiac Arrest in a Previously Healthy Young Male: Perimyocarditis Presenting as Myocardial Infarction With Non-obstructive Coronary Arteries.
- Entrectinib-associated perimyocarditis in ROS1-positive NSCLC: a diagnostic and therapeutic dilemma — a case report
- Donor-Resolved Analysis of HES1-Associated Fibroblast States in Systemic Sclerosis
BibTeX
@article{heneghan2026antifibrillarin,
title = {{Anti-fibrillarin Positive Systemic Sclerosis Presenting With Myositis and Perimyocarditis}},
author = {Niamh Heneghan and Gibran Merali and Kate Akester and Anjali Patel},
journal = {Cureus},
year = {2026},
month = oct,
doi = {10.7759/cureus.117416},
url = {https://europepmc.org/article/PMC/PMC13728759},
note = {CC BY},
}
RIS
TY - JOUR
TI - Anti-fibrillarin Positive Systemic Sclerosis Presenting With Myositis and Perimyocarditis
AU - Niamh Heneghan
AU - Gibran Merali
AU - Kate Akester
AU - Anjali Patel
PY - 2026
DA - 2026/10/04
JO - Cureus
DO - 10.7759/cureus.117416
UR - https://europepmc.org/article/PMC/PMC13728759
AB - A 45-year-old man with no significant past medical history presented with six months of progressive proximal muscle weakness, inflammatory arthralgia, and functional decline, on a background of two years of progressive depigmented pruritic skin lesions. Examination demonstrated widespread hypopigmented sclerotic skin changes, sclerodactyly, and digital ulceration. Investigations revealed mildly elevated creatine kinase (CK) and cardiac biomarkers, with cardiac magnetic resonance imaging (MRI) demonstrating perimyocarditis and thigh MRI showing symmetrical muscle oedema consistent with inflammatory myopathy. Skin biopsy demonstrated dermal fibrosis while serology was positive for anti-fibrillarin antibodies. A diagnosis of anti-fibrillarin-positive systemic sclerosis with inflammatory myositis was made. Treatment with low-dose prednisolone and colchicine resulted in clinical improvement, with mycophenolate mofetil (MMF) planned as a steroid-sparing agent. Initiation was delayed following a positive QuantiFERON-TB (QIAGEN GmbH, Hilden, Germany) test requiring management of latent tuberculosis (TB). This case highlights the diagnostic complexity of anti-fibrillarin-positive systemic sclerosis presenting with simultaneous muscular and cardiac involvement and emphasises the importance of early recognition of multisystem disease.
SN - 2168-8184
ER -