Extranodal Rosai-Dorfman Disease- A review of diagnostic testing and management.

Abstract

Rosai-Dorfman disease (RDD) is a rare, benign histiocytic proliferative disorder primarily occurring in the lymph nodes. Extranodal disease can occur in skin and soft tissue, central nervous system, gastrointestinal tract, and breast. Here we present a case of a 55-year-old female with a history of hypertension, hyperlipidemia, and diabetes mellitus who presented with a fixed solid mass localized to the right medial thigh. Excision revealed S100 and CD 68 positive scattered lymphoid aggregates and emperipolesis, hallmark molecular and cytopathologic features of RDD. RDD is a nonmalignant, classically sporadic histiocytosis. Clinical outcome in terms of mortality seems to be favorable in most cases, however given the benign and slowly progressive nature of the disease, conservative management with observation is typical, with surgical excision recommended for larger lesions. Currently, therapy revolves around surgical and immunosuppressive treatments, but the optimal diagnostic and therapeutic management of RDD remains to be defined.

Uncommon presentation of Rosai-Dorfman disease: Nasal and nasopharyngeal involvement: A case report and discussion

“…RDD can affect individuals across different age groups and can show up in various organ systems, affecting both children and adults. Additionally, there is a higher occurrence in males among the adult population [3 , 7 , 8] . Common clinical features include painless lymphadenopathy, fever, night sweats, and weight loss [9] .…”

“…However, RDD's clinical presentation is highly variable, and as evidenced in this case, it can involve the nasopharynx, leading to unique symptoms. RDD primarily involves lymph nodes but can manifest as extranodal involvement in various anatomical sites, including the head and neck region, central nervous system, skin, soft tissues, and more [3 , 6] . In this case, the patient exhibited an extranodal involvement in the nasal cavity and paranasal sinuses which is relatively uncommon in RDD cases [1] .…”

“…RDD can present as single or multiple masses in various anatomical sites, making imaging crucial for accurate diagnosis and treatment planning. In this case, the presentation in the nasal cavity and paranasal sinuses is less commonly documented in the literature, making the diagnosis challenging due to its rarity [1 , 3 , 7] .…”

“…This intriguing disease presents a wide spectrum of clinical manifestations and outcomes, making it a subject of significant medical interest. RDD is classified within the non-Langerhans cell histiocytosis group, and according to recent classification, it falls under the “R group” histiocytosis [3] .…”

“…The hallmark of RDD is often the massive, painless, and bilateral cervical lymphadenopathy, accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia [4] . While this lymphadenopathy is the most common presentation, RDD can also manifest as an extranodal disease affecting various sites, including the skin, soft tissue, central nervous system, gastrointestinal tract, breast, and sino-nasal region [3] .…”