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Background <p>Melkersson-Rosenthal syndrome (MRS), a rare granulomatous disorder, classically presents with recurrent facial palsy, orofacial edema, and fissured tongue. Associations with autoimmune diseases highlight its role as a potential marker of systemic immune dysregulation.</p> <p>Case presentation.</p> <p>A 21-year-old South Asian female presented with recurrent right facial palsy and fissured tongue. Serological testing revealed anti-SS-A (52 U/mL) and anti-RNP (&gt; 240 U/mL) antibodies, leading to a diagnosis of oligosymptomatic MRS associated with anti-RNP-positive undifferentiated connective tissue disease (UCTD) with features suggestive of evolving mixed connective tissue disease (MCTD).</p> Results <p>Hydroxychloroquine therapy resulted in sustained remission at 6-month follow-up with normalization of inflammatory markers and significant reduction in anti-RNP titers.</p> Conclusion <p>This case underscores MRS as a potential early indicator of underlying autoimmune disorders including anti-RNP-positive UCTD that may evolve into MCTD. Comprehensive autoimmune evaluation and targeted immunosuppression are critical for favorable outcomes.</p>

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Melkersson-Rosenthal syndrome associated with anti-RNP positive undifferentiated connective tissue disease in a young female: case report and review of literature

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  • 发表日期：

    2025年8月1日

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  • Abhishek Dixit

摘要

Background

Melkersson-Rosenthal syndrome (MRS), a rare granulomatous disorder, classically presents with recurrent facial palsy, orofacial edema, and fissured tongue. Associations with autoimmune diseases highlight its role as a potential marker of systemic immune dysregulation.

Case presentation.

A 21-year-old South Asian female presented with recurrent right facial palsy and fissured tongue. Serological testing revealed anti-SS-A (52 U/mL) and anti-RNP (> 240 U/mL) antibodies, leading to a diagnosis of oligosymptomatic MRS associated with anti-RNP-positive undifferentiated connective tissue disease (UCTD) with features suggestive of evolving mixed connective tissue disease (MCTD).

Results

Hydroxychloroquine therapy resulted in sustained remission at 6-month follow-up with normalization of inflammatory markers and significant reduction in anti-RNP titers.

Conclusion

This case underscores MRS as a potential early indicator of underlying autoimmune disorders including anti-RNP-positive UCTD that may evolve into MCTD. Comprehensive autoimmune evaluation and targeted immunosuppression are critical for favorable outcomes.