Treatment of Rosai-Dorfman Disease
The treatment of Rosai-Dorfman disease (RDD) should be guided by disease extent, symptom severity, and organ involvement, with many cases not requiring active intervention as the disease is often self-limited, particularly for nodal and cutaneous forms. 1, 2
Disease Overview
- RDD is a rare non-Langerhans cell histiocytosis characterized by S100+, CD68+, and CD1a- histiocytes with emperipolesis (engulfment of lymphocytes by histiocytes) 2
- Most commonly presents with bilateral cervical lymphadenopathy, but 43% of patients have extranodal disease 1
- More frequent in children and young adults (mean age 20.6 years), with male predominance and higher prevalence in individuals of African descent 1
Treatment Algorithm
Observation (First-Line for Asymptomatic/Mild Disease)
- Many patients do not require treatment as RDD can spontaneously resolve, especially nodal and cutaneous disease 1
- Careful monitoring is appropriate for asymptomatic or minimally symptomatic disease 2
Surgical Intervention
- Surgical excision is the most common first-line treatment (38% of cases) and is indicated for: 3
- Isolated lesions causing symptoms
- Airway obstruction
- Neurologic compression
- Large lesions causing end-organ compromise 1
Corticosteroid Therapy
- Corticosteroids are the most common first-line systemic therapy (27% of cases) 3
- Prednisone (40-70 mg daily) or dexamethasone (8-20 mg daily) has shown efficacy in: 1
- Orbital involvement
- CNS disease
- Bone lesions
- RDD with autoimmune hemolytic anemia 1
- Response rate is approximately 56%, but relapses can occur after discontinuation 3, 1
- Intralesional steroids may be effective for localized disease, particularly with optic nerve compression 1
Radiotherapy
- Beneficial for: 1
- Refractory soft tissue disease
- Orbital disease with visual compromise
- Resistant airway obstruction
- Palliation of local symptoms
- When surgery is contraindicated or after incomplete resection 1
- No standardized dosing regimen has been established 1
Systemic Therapies for Refractory Disease
- Cladribine has shown a 67% response rate in refractory cases 3
- Immunomodulatory agents:
- Thalidomide has shown efficacy in cutaneous and nodal disease 1
- Lenalidomide may be more tolerable than thalidomide for refractory nodal and bone RDD 1
- Rituximab has shown efficacy in autoimmune-related RDD 1
- Methotrexate combined with infliximab has been successful in RDD with cutaneous involvement and arthritis 4
- Targeted therapies:
Alternative Approaches for Specific Presentations
- Cryotherapy may be effective for cutaneous RDD refractory to topical and intralesional steroids 5
Duration of Treatment and Follow-up
- For systemic therapies, 6-12 months of treatment followed by observation is reasonable if the patient shows tolerance and favorable response 1
- First response assessment should be performed within 4 months of initiating treatment 1
- If disease stabilizes or enters remission, surveillance intervals can be extended to 6-12 months 1
Prognosis
- Most cases have favorable outcomes, particularly nodal and cutaneous disease 1
- Some patients experience an unpredictable course with alternating periods of remission and reactivation 1
- Poor prognostic factors include: 1
- Multifocal and extranodal disease
- Kidney involvement
- Liver involvement
- Lower respiratory tract disease
- Mortality rates range from 7-12% in large case series, primarily from direct disease complications, infections, or amyloidosis 1