BACKGROUND Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman disease, or Rosai-Dorfman-Destombes disease (RDD), is a rare non-Langerhans cell of unknown etiology. This report is of a case of isolated SHML, or Rosai-Dorfman disease, presenting as a right atrial mass with involvement of the tricuspid valve in a 54-year-old woman. This case shows the challenges of diagnosing this condition in the heart and the challenges of treating this rare disease with the limited information on the efficacy of the treatment modalities. CASE REPORT A 54-year-old Asian woman presented to the Emergency Department with chest and right upper quadrant pain. Transthoracic echocardiogram and computed tomography angiography showed a right atrium mass at the level of the tricuspid valve, causing moderate-severe regurgitation. Partial tumor debulking with biopsies later showed pink-yellow soft tissue, with histopathology showing histiocytes demonstrating emperipolesis. The tumor was positive for CD68 and S100 and negative for CD1a, consistent with Rosai-Dorfman disease. Subsequently the patient received targeted therapy with cobimetinib, without worsening cardiac function or disease progression. CONCLUSIONS This case highlights the challenging histopathological diagnosis of SHML, or Rosai-Dorfman disease, particularly in non-lymphoid tissue, such as the heart. Obtaining tissue for diagnosis can be challenging in this organ. Treatment is challenging when the mass cannot be extracted completely, like in our case, because other forms of therapies are not well studied and warrant further investigation, such as cobimetinib, which is a MEK pathway inhibitor approved in 2022 by the US Food and Drug Administration for histiocytic neoplasms.
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http://dx.doi.org/10.12659/AJCR.942511 | DOI Listing |
JAAD Case Rep
February 2025
Dermatology Department, NYC Health + Hospital/Metropolitan, New York, New York.
Front Oncol
January 2025
Department of Radiology, Daping Hospital, Army Medical University, Chongqing, China.
Background: Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare non-malignant disorder characterized by excessive proliferation of histiocytes, the cause of which remains unknown. Although the lymph nodes are the most commonly affected site, some patients may present with extranodal involvement, particularly in the skin, nasal cavity, eyes, and bones. In this report, we aim to present a unique case of RDD with pleural involvement in a 61-year-old patient.
View Article and Find Full Text PDFExp Ther Med
February 2025
Department of Histopathology, Specialty Hospital, Amman 11194, Jordan.
In the present case, a 66-year-old woman presented to the Specialty Hospital (Amman, Jordan) with recurrent post-menopausal bleeding. A pelvic ultrasound scan showed an abnormal endometrial thickness of 8 mm and no adnexal masses. An endometrial biopsy revealed abundant foamy histiocyte infiltration features suggestive of xanthogranulomatous endometritis.
View Article and Find Full Text PDFKidney Int Rep
January 2025
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Introduction: The aim of this study was to describe the clinical features and treatment responses of Rosai-Dorfman disease (RDD) and Erdheim-Chester disease (ECD) with kidney involvement.
Methods: We retrospectively analyzed patients with RDD and ECD with kidney involvement from 2005 to 2023, evaluating kidney function changes, as well as computed tomography (CT), and metabolic responses.
Results: The study included 4 patients with RDD and 44 with ECD, with median ages of 58 and 51 years, respectively.
Ann Diagn Pathol
January 2025
Department of Pathology, Peking University People's Hospital, 100044, China.
Rosai-Dorfman disease (RDD) is a rare proliferative disorder of histiocytes, and primary solitary RDD of the bone is extremely rare. Some RDDs exhibit increased immunoglobulin (Ig)G4 positive (IgG4+) plasma cell infiltration and the histopathological features of IgG4-related disease (IgG4-RD). However, the association between RDD and IgG4-RD remains unclear.
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