What is another name for Rosai Dorfman disease?: A Comprehensive Guide

October 1, 2025 •

4 min read

Rosai-Dorfman disease (RDD) is a rare histiocytic disorder, with studies suggesting its incidence is approximately 1 per 200,000 people in the US. For accurate diagnosis and understanding, it is vital to know that the condition has a primary and more descriptive medical name. This guide will clarify what is another name for Rosai Dorfman disease and its other key characteristics.

Quick Summary

Another name for Rosai Dorfman disease is sinus histiocytosis with massive lymphadenopathy (SHML), a rare and typically benign condition involving an overproduction of immune cells called histiocytes in the lymph nodes and other organs.

Key Points

Another Name: The primary synonym for Rosai-Dorfman disease (RDD) is sinus histiocytosis with massive lymphadenopathy (SHML).
Nature: RDD is a rare, benign histiocytic disorder characterized by an overgrowth of histiocytes in the lymph nodes and other tissues.
Primary Symptom: The most common clinical feature is painless swelling of lymph nodes, particularly in the neck.
Extranodal Involvement: The disease can affect organs and tissues outside the lymph nodes, including the skin, eyes, and bones.
Diagnostic Hallmark: The key microscopic finding is emperipolesis, where histiocytes engulf intact lymphocytes.
Benign vs. Cancer: RDD is not a cancer, but its growths can cause complications depending on their location, and it can be associated with other malignancies.
Treatment: Management ranges from observation for mild cases to surgery, steroids, and targeted therapy for more severe or symptomatic disease.

The Primary Synonyms: Sinus Histiocytosis with Massive Lymphadenopathy (SHML)

Rosai-Dorfman disease (RDD) is also widely known by its more descriptive name, sinus histiocytosis with massive lymphadenopathy (SHML). The name was coined by American pathologists Juan Rosai and Ronald Dorfman in 1969, who first characterized the disorder. The name describes the key pathological features: a proliferation of histiocytes (a type of white blood cell) within the sinuses of the lymph nodes, leading to a significant enlargement of these lymph nodes, or massive lymphadenopathy.

Another, less common name is Rosai-Dorfman-Destombes disease, acknowledging Pierre Destombes who first reported cases of adenitis with lipid excess in 1965.

Understanding the Clinical Presentation

RDD primarily affects children and young adults, but cases in older individuals are also reported. The most common symptom is painless, bilateral cervical lymphadenopathy, meaning swollen lymph nodes on both sides of the neck. However, the histiocyte accumulation can occur in other areas as well, a condition known as extranodal RDD. Extranodal involvement occurs in approximately 43% of cases.

Potential Sites for Extranodal RDD

Skin: The most frequent extranodal site, causing nodules, plaques, or papules.
Upper Respiratory Tract: Can involve the sinuses, leading to nasal obstruction or discharge.
Bones: Lesions can cause pain and increase fracture risk, though this is less common.
Central Nervous System (CNS): Can lead to headaches, seizures, or vision problems depending on the location.
Eyes and Orbit: May cause bulging eyes (proptosis) or visual disturbances.
Other Organs: Less frequently affects the kidneys, liver, gastrointestinal tract, breast, or heart.

Beyond swollen lymph nodes and extranodal lesions, some patients experience systemic symptoms like fever, night sweats, weight loss, and fatigue. Blood work may reveal anemia, leukocytosis, or elevated inflammatory markers.

The Diagnostic Process

Diagnosing RDD is challenging due to its rarity and non-specific symptoms, which can mimic more common conditions like lymphoma. The definitive diagnosis hinges on a tissue biopsy of the affected area, followed by careful pathological examination.

Biopsy Analysis: Pathologists examine the tissue for the presence of large, pale histiocytes with round nuclei.
Emperipolesis: The microscopic hallmark of RDD is emperipolesis, where the large histiocytes contain intact lymphocytes and other inflammatory cells within their cytoplasm.
Immunohistochemical Staining: Special staining confirms the identity of the histiocytes, which are typically positive for S100 and CD68 markers, but negative for CD1a, a marker used to differentiate from Langerhans cell histiocytosis (LCH).

Exploring the Causes and Associations

The exact cause of RDD remains unknown, but research points to several potential triggers and underlying mechanisms. It is no longer considered a purely reactive process but, in some cases, can be a clonal proliferative process.

Genetic Mutations: Recent molecular studies have identified recurrent gene mutations in the MAPK/ERK pathway (e.g., KRAS, MAP2K1) in a subset of patients, particularly those with more aggressive or persistent disease. Germline mutations in the SLC29A3 gene can cause a familial form of RDD known as H syndrome.
Immune System Dysregulation: An altered immune response to an unknown trigger is a likely factor in the excessive production of histiocytes.
Infections: Associations with viral infections like Epstein-Barr virus (EBV), human herpesvirus 6 (HHV-6), and HIV have been reported, suggesting a potential infectious trigger.
Associated Conditions: RDD can coexist with autoimmune conditions (such as lupus) or malignancies (like Hodgkin and non-Hodgkin lymphoma), though the relationship is not fully understood.

Treatment Approaches and Prognosis

RDD is a typically benign and often self-limiting condition, meaning symptoms can resolve spontaneously without intervention. For asymptomatic individuals, a 'wait and watch' approach with close monitoring is common. However, treatment is necessary for symptomatic or life-threatening cases where vital organs or functions are affected.

Surgery: Can be curative for localized lesions and may be used for debulking large masses to relieve pressure.
Corticosteroids: These can reduce inflammation and lymph node swelling.
Chemotherapy and Targeted Therapy: For progressive, widespread, or severe disease, systemic therapies like chemotherapy (e.g., cladribine, vinblastine) or targeted inhibitors (e.g., MEK inhibitors) may be used, particularly in cases with identified gene mutations.
Radiation Therapy: May be an option for localized, difficult-to-excise lesions.

The overall prognosis for RDD is favorable, but some patients may experience chronic disease or recurrences.

Comparing Rosai-Dorfman Disease to Langerhans Cell Histiocytosis (LCH)

As both are histiocytic disorders, RDD is sometimes mistaken for Langerhans Cell Histiocytosis (LCH). However, key differences exist in their pathology.


Feature	Rosai-Dorfman Disease (RDD)	Langerhans Cell Histiocytosis (LCH)
S-100 Protein	Positive (+)	Positive (+)
CD1a Marker	Negative (-)	Positive (+)
Langerin	Negative (-)	Positive (+)
Emperipolesis	Present and a key diagnostic feature	Absent
Birbeck Granules	Absent on electron microscopy	Present on electron microscopy
Cell Morphology	Large, pale histiocytes with round nuclei	Cells with characteristic 'coffee-bean' shaped nuclei

Conclusion: The Importance of Accurate Identification

Understanding what is another name for Rosai Dorfman disease—namely, sinus histiocytosis with massive lymphadenopathy—is essential for medical professionals and patients alike. While a complex and rare disorder, accurate pathological diagnosis, often confirmed by immunohistochemistry showing the characteristic emperipolesis, is crucial for guiding appropriate management. While often benign, the disease's varied presentation requires careful consideration and specialized care, highlighting the importance of clear nomenclature. For more information, the National Organization for Rare Disorders (NORD) is an excellent resource.

Frequently Asked Questions

The most widely recognized synonym for Rosai-Dorfman disease is sinus histiocytosis with massive lymphadenopathy (SHML), named for the accumulation of histiocytes in the lymph node sinuses.

No, Rosai-Dorfman disease is not a cancer. It is considered a benign histiocytic proliferative disorder, though in rare cases it can be associated with malignancies or mimic them.

The exact cause is unknown, but researchers believe it may be related to immune system dysfunction, certain genetic mutations (like in the MAPK pathway), or potentially triggered by infectious agents like viruses.

Diagnosis requires a tissue biopsy of an affected area. Pathologists confirm the diagnosis by identifying the characteristic large histiocytes and emperipolesis, as well as specific immunohistochemical markers (S100+, CD1a-).

RDD predominantly affects children and young adults, most often presenting with bilateral, painless cervical lymphadenopathy. However, it can appear in any age group and in various locations.

While the majority of RDD cases are sporadic, some familial cases have been linked to specific germline mutations, particularly in the SLC29A3 gene, which is associated with conditions like H syndrome.

Treatment varies depending on symptom severity and affected organs. It can range from simple observation for mild cases to surgical removal, corticosteroids, or targeted and conventional chemotherapy for more serious or widespread disease.

Emperipolesis is a hallmark pathological feature of RDD where the large histiocytes engulf intact lymphocytes, plasma cells, and other cells. The engulfed cells remain viable within the histiocyte.