Rosai-Dorfman disease: A rare presentation as an isolated axillary lymphadenopathy, a case report and literature review

Abstract

Back Ground: Rosai-Dorfman Disease (RDD) is a rare benign histiocytic disorder characterized by the proliferation of non-Langerhans cell histiocytes, primarily affecting young adults. The etiology remains unclear, although infectious and autoimmune factors have been suggested. Recent advancements have revealed significant genetic factors, particularly involving the MAPK/ERK pathway. Case Presentation: A 30-year-old female presented with a six-month history of progressive swelling in the left axilla, fatigue, intermittent fevers, and significant weight loss. Examination revealed firm, non-tender left axillary lymphadenopathy and erythematous papular skin lesions. Laboratory tests indicated mild inflammation, and imaging confirmed isolated left axillary lymphadenopathy. An excisional biopsy demonstrated histiocytic proliferation with emperipolesis and immunohistochemistry of the histiocytes was positive for S100, CD68, but negative for CD1a, confirming the diagnosis of RDD. The patient responded well to corticosteroid treatment, showing significant clinical improvement within four weeks. Discussion: Isolated axillary lymph node involvement in RDD is rare, with only a few cases reported. The etiology remains enigmatic, with theories suggesting a dysregulated immune response potentially triggered by infectious agents. Recent molecular studies have identified mutations in the MAPK pathway, including ARAF, MAP2K1, NRAS, and KRAS, linking RDD to neoplastic myeloproliferative conditions. The diagnosis relies on histopathological examination and immunohistochemistry, highlighting the importance of recognizing RDD in young adults with unexplained lymphadenopathy. Conclusion: This article presents a case of Rosai-Dorfman Disease (RDD) in a 30-year-old female patient who exhibited an unusual presentation with isolated left axillary lymphadenopathy and skin lesions. It emphasizes the importance for clinicians to consider RDD in younger patients with unexplained lymphadenopathy and systemic symptoms. The article highlights that timely diagnosis and appropriate treatment can result in positive outcomes, and it calls for further research to improve understanding and management of RDD.

Keywords: Rosai-Dorfman disease , isolated axillary lymphadenopathy , case report