Rosai-Dorfman Disease: Self-Resolving Unilateral Lymphadenopathy and a Brief Review of Literature

Abstract

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a disease of histiocytic proliferation with no known pathogenesis. This disease is defined by histological and cytological characteristics, including emperipolesis and positive S100 and CD68 markers. Although the disease typically presents clinically with massive bilateral lymphadenopathy due to sinus expansion from excessive histiocytosis, only unilateral lymphadenopathy was observed in this patient. The case involves a 40-year-old Caucasian male from the Netherlands presenting with unilateral lymphadenopathy suspicious for malignancy. Subsequent histological and laboratory testing led to the rare diagnosis of RDD. The lymphadenopathy resolved spontaneously over the course of several weeks following the initial presentation. Rosai-Dorfman disease reportedly has a benign prognosis with approximately 20% of patients experiencing spontaneous disease resolution (as was the case for this patient) with 70% experiencing chronic symptoms that may last years but not require intervention. We therefore advocate observation as a mainstay of treatment for most cases of this rare disease with intervention only being pursued in symptomatic cases. A review of recent literature regarding pathogenesis, epidemiology, diagnostic factors, prognosis, and treatment is provided and discussed.

Rosai-Dorfman disease with pulmonary involvement mimicking bronchogenic carcinoma

“…The mechanism of histiocytic proliferation in infectious etiology is not well known. Some authors suggested that macrophage colony-stimulating factor (M-CSF) stimulates macrophages which lead to macrophages/ histiocytic proliferation [4,6]. On the other hand, autoimmune reaction can cause an acquired internal dysregulation which results in disturbance of cellular apoptotic signaling pathway mechanism that lead to macrophages/ histiocytic proliferation [5].…”

“…The differential diagnosis include benign lymphoid hyperplasia with sinus histiocytosis which will lack the emperipolesis seen in RDD, Langerhans cell histiocytosis in which the cells are positive for S100, langerin, and CD1a. Other differentials include leprosy infection, rhinoscleroma, melanoma, and metastatic carcinoma [1,4].…”

“…The prognosis of RDD is generally benign. Many cases of RDD undergo spontaneous complete resolution, especially in cases with nodal involvement only [4]; while other cases have an unpredictable outcome. In severe cases of RDD particularly with extra-nodal involvement, or cases with vital organs compression such as kidney and CNS, the patient might have worse outcome due to physiological and immunological complications.…”

“…In cases with nodal involvement and spontaneous remission, observation is the usual modality of treatment. Medical and/ or surgical treatment is needed when there is extra-nodal involvement with obstruction or compression symptoms [2,4]. Rosai-Dorfman disease may not respond completely to therapy, although chemotherapy was effective in some cases [8].…”

“…Typically, it presents as non-tender bilateral cervical lymphadenopathy [2] and extra-nodal affection is rare [3]. The exact etiology is not clear but infectious or autoimmune mechanisms were suggested [4]. Pulmonary presentation of the disease and its management is rarely reported.…”