The Rosai-Dorfman disease presents with extranodal involvement and diagnostic challenges

Kanumoori Angelin1, A. Preethi2

1Physician Assistant, Kauvery Hospital, Alwarpet, Chennai

2Associate Consultant – Medical Oncologist, Kauvery Hospital, Alwarpet, Chennai

Abstract

Rosai-Dorfman Disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare disorder characterized by the accumulation of histiocytes, in lymph nodes and/or extra nodal sites. We present the case of a 60-year-old female with RDD, highlighting the diagnostic criteria, imaging findings, and management strategies.

Case Presentation

A 60-year-aged female with a medical history of diabetes mellitus (DM), hypertension (HTN), and coronary artery disease (CAD) presented with a swelling and discomfort in her right thigh, lasting for 1month.

The patient underwent wide local excision and flap closure on 14.06.2024. Histopathological examination (HPE) revealed features of an inflammatory pseudotumor and atypical lipomatous tumour with inflammatory components.

Immunohistochemistry (IHC) demonstrated positivity for CD68, SMA, CD138, and S100, while ALK, MDM2, and PANCK were negative.

Whole body PET-CT scan showed ill-defined and STIR hyper intense soft tissue thickening in the subcutaneous plane of the right anteromedial upper thigh and an indeterminate, well-defined ovoid mildly FDG avid lesion in the subcutaneous plane of the right postero-lateral chest wall.

Investigation Findings

VitalsResults
Deep Margins0.1 cm
Immunohistochemistry
CD68Positive in histiocytic
SMAPositive in blood vessels
CD138Positive in plasma cells
S100Positive
Cyclin D1aPositive
ALKPositive
CD1APositive
Actin 1A4Positive
Ki673%
IgG410-15 cells/HPF
MDM2, PANCKNegative

These findings raised the suspicion of RDD.

 

Clinical Findings

Solid, soft to firm lesion measuring 4×2.5×2.5 cm on the medial side of the right thigh

Presence of extra nodal disease

Management

Surgical Treatment: Wide local excision with flap closure

Pharmacologic Treatment: Prednisone 40 mg daily for 4 weeks then tapered.

Conclusion

The prognosis of RDD depends on various factors including the number of affected lymph nodes and the locations of histiocytic involvement. RDD often resolves spontaneously, but treatment may be necessary in some cases to prevent serious complications. Prognosis is generally better with extra nodal RDD, especially if it involves the skin, chest, or upper respiratory tract. Conversely, a worse prognosis is associated with involvement of the lower respiratory tract, kidneys, or liver.

 

Ms. Kanumoori Angelin
Physician Assistant

Dr.A.Preethi

Dr A. Preethi
Associate Consultant – Medical Oncologist

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