Relapse of Juvenile Dermatomyositis following Eight Years in Remission: A Case Report

Abstract

Introduction

Dermatomyositis is an autoimmune inflammatory condition that is characterized by proximal muscle weakness and a variety of cutaneous manifestations.

Case Presentation

In this report, we discuss the case of a 27-year-old white female who developed a relapse of juvenile dermatomyositis (JDM) 8 years after remission. The patient presented with a 4-month history of progressive proximal muscle weakness and rash, as well as a more recent onset of dysphagia. Severe cutaneous involvement was apparent on examination with ulcerated, pruritic plaques, violaceous papules, and diffuse erythema. Laboratories revealed elevated CK, aldolase, and CRP, with positive anti-NXP2, anti-U1 RNP, and anti-U2 RNP antibodies. Based on the clinical picture and diagnostic results, a relapse of JDM was diagnosed and various medication trials were initiated. Since initial presentation, the patient has improved and is currently stable on a regimen of hydroxychloroquine, IVIG, low-dose corticosteroids, tofacitinib, and gabapentin. Her myositis is in remission; however, she continues to experience burdensome cutaneous symptoms and overall significant disease impact.

Conclusion

This case highlights the possibility of JDM relapse even after prolonged remission, underscoring the importance of maintaining a high index of suspicion for symptom recurrence. It also offers a thorough example of multimodal therapy use for refractory JDM.

Introduction

Juvenile dermatomyositis (JDM) is an autoimmune inflammatory disease that presents with symmetric, proximal muscle weakness and characteristic dermatologic findings such as Gottron papules, heliotrope rash, and calcinosis cutis. Initial treatment typically includes long-term corticosteroids, often in combination with methotrexate or hydroxychloroquine [1]. The course and prognosis of JDM are extremely unpredictable, with some patients achieving permanent remission, but others following a chronic or relapsing course. When a relapse does occur, it is generally soon after the initial episode, with relapses beyond 3 years rarely reported in literature [2].

Case Report

We report an unusual case of a 27-year-old white female who developed a relapse of JDM 8 years after remission. The patient was initially diagnosed at age 6 based on MRI and muscle biopsy results. She was treated with hydroxychloroquine, methotrexate, and steroids until age 16, after which her medications were tapered, and she achieved remission at 18. Eight years later, the patient presented to the emergency department with a 4-month history of severe rash and muscle weakness, as well as new-onset dysphagia. During this time, she had been prescribed multiple courses of steroids and antibiotics from urgent care visits without improvement. Of note, there was no known recent COVID-19 infection or vaccination.

On initial physical examination, the strength in her hips was 3/5 bilaterally, and the strength in her bilateral upper extremities, knees, and ankles was 4/5. Skin examination showed violaceous papules with diffuse erythema on the chest, forehead, upper cutaneous eyelids, cheeks, chin, and bilateral dorsal fingers. Angulated ulcerated plaques were present on the abdomen and lower back. No exam findings that suggested an overlap with scleroderma were noted, such as Raynaud’s phenomenon or sclerodactyly.

Laboratory workup revealed a CK of 1,000, CRP of 1.1, aldolase of 11, and mildly elevated AST and ALT. Myositis panel was positive for anti-NXP2, anti-U1 RNP Ab, and anti-U2 RNP. A biopsy of an abdominal lesion was performed due to concern for calcinosis cutis, based on skin examination and a CT abdomen and pelvis that demonstrated subcutaneous coarse calcifications above the umbilicus. Histopathology revealed an ulcer with impetiginization and bacterial growth within the ulcer bed, though calcinosis cutis remained a concern (Fig. 1, 2). No MRI or biopsy of the muscle was performed at this time due to the patient’s history and characteristic findings of dermatomyositis. Other diagnostic studies included an echocardiogram, chest CT, and swallow study, all of which were normal. During admission, cancer screening was unrevealing. Based on patient history, clinical presentation, and laboratory workup, JDM relapse was the suspected diagnosis. The patient was discharged on prednisone 60 mg and hydroxychloroquine 400 mg with referrals to continue care with dermatology, rheumatology, physical therapy, and speech therapy.

Fig. 1.

Hematoxylin and eosin (H&E) stain of punch biopsy.

Fig. 2.

Histopathology at ×100 magnification.

Despite this treatment, the patient reported worsening of muscle aches, weakness, dysphagia, rash, and skin thickening with ulcerative lesions at her 2-week follow-up (Fig. 3, 4). The patient was also experiencing progressive difficulties with activities of daily living and an inability to continue her job as a hair stylist. Therefore, treatment was escalated to include oral methotrexate 25 mg weekly, apremilast 30 mg twice daily, and a 5-day hospital admission for IVIG therapy. Dosing was based on a weight of 62.59 kg. At this time, hydroxychloroquine was continued at 400 mg and a prednisone taper was initiated.

Fig. 3.

Follow-up physical examination of the dorsal fingers.

Fig. 4.

Follow-up physical examination of the right flank.

Throughout the following months, the patient reported significant improvement in her systemic symptoms. Cutaneous symptoms also improved; however, they remained poorly controlled with persistent skin lesions. Home IVIG was initiated due to significant improvement after the first course. Skin examinations showed progressive healing of the ulcerative plaques on her abdomen and back, though new pruritic lesions continued to arise. Throughout this time, she did report concern for worsening temporal hair loss, which clobetasol improved.

After a few months of steady improvement, skin healing was delayed by an infection with Pseudomonas, which resolved with a course of ciprofloxacin. Intralesional Kenalog-20 (ILK-20) was injected into ulcerated lesions on the back after the exacerbation from infection.

After the injection, the patient reported decreased pain, drainage, and size of skin lesions; therefore, an ILK-40 injection was administered again at the following appointment.

At a later follow-up, examination showed improvement of several previously ulcerated lesions, but new lesions continued to develop on the lower back. Due to insufficient symptom control, apremilast was discontinued, and the patient was transitioned to tofacitinib 5 mg twice daily. Gabapentin was also initiated at 100 mg daily for itching and burning pain. Since her initial presentation, the patient’s creatinine kinase, aldolase, and CRP have downtrended to normal range. At her most recent follow-up, her myositis was in remission, and her cutaneous findings had remained stable. Currently, the patient is stable on a regimen of hydroxychloroquine, IVIG, low-dose corticosteroid, tofacitinib, and gabapentin, none of which have led to any unanticipated adverse events.

Discussion

This case highlights a rare, delayed relapse of JDM that is also notable for its refractory course that has required multimodal treatment. Though JDM relapse has been reported, it has rarely been noted after such a long period of remission. Additionally, while this patient’s initial episode was treated with methotrexate, hydroxychloroquine, and steroid therapy for 10 years, other case reports of delayed relapse involve patients whose initial episodes were treated less aggressively. In 1 case report that discussed a JDM relapse 8 years after remission, the patient’s initial episode was treated with two courses of methylprednisolone pulse therapy and 6 months of prednisolone and methotrexate [2]. Of two more cases reporting delayed relapse, 1 patient achieved remission from the first episode without treatment, while the other was only treated with oral prednisolone [3, 4].

This case report contributes to the limited literature on late relapse of JDM, with a detailed clinical, diagnostic, and therapeutic course included. A limitation of this report is that the long-term outcomes for the patient are unknown; therefore, it is difficult to make conclusions about the sustainable efficacy of the treatment regimen. It also has limited generalizability as it is a single-patient report.

Overall, this case report describes a markedly delayed relapse of JDM 8 years after remission that required aggressive, multimodal therapy. Potential for relapse is important for patients and providers to be aware of, so there is early suspicion if the disease does recur. The case also suggests that disease relapse may require more intensive treatment than the initial episode, which emphasizes the value of individualized treatment plans.

Statement of Ethics

Written informed consent was obtained by the patient for publication. Ethical approval is not required for this study in accordance with local or national guidelines. The CARE Checklist has been completed by the authors for this case report, attached as online supplementary material (for all online suppl. material, see https://doi.org/10.1159/000549462).

Conflict of Interest Statement

The authors have no conflicts of interest to declare.

Funding Sources

This study was not supported by any sponsor or funder.

Author Contributions

J.B.: writing – original draft. T.T.: writing – reviewing and editing. J.J.: writing – reviewing and editing and resources. C.H.: writing – reviewing and editing and supervision.

Funding Statement

This study was not supported by any sponsor or funder.

Data Availability Statement

No new data were created or analyzed in this study. The data that support the findings of this study are not publicly available due to privacy concerns. Data sharing is not applicable to this article. Further inquiries can be directed to the corresponding author.