Intractable Rare Dis Res. 2022;11(2):90-92. (DOI: 10.5582/irdr.2022.01037)

Differential diagnosis in Rosai-Dorfman disease: A rare case of isolated hepatic presentation mimicking a metastatic tumor with positive 18-FDG uptake

Gazia C, Giordano L, Diodoro MG, Compalati I, Avantifiori R, Grazi GL


Rosai-Dorfman disease (RDD) is also called sinus histiocytosis with massive lymphadenopathy, and it is caused by a histiocytic disorder with unclear etiology. It usually involves cervical lymph nodes, but it may also present with extranodal involvement. We report a rare condition of isolated hepatic RDD without nodal involvement, clinically manifested with three-month abdominal pain and tenderness of the right hypochondrium. CT- and PET-CT scans were compatible with a secondary lesion from an unknown primary tumor. Therefore, the patient underwent an atypical liver resection. Immunohistochemistry and histological results were compatible with a diagnosis of RDD. RDD is characterized by phenomena of emperipolesis, histiocytic proliferation and positive immunostaining for CD14, CD68 and S-100 protein. Cases of isolated gastrointestinal localization of RDD are particularly rare, especially in the liver. Instrumental exams might confuse RDD with other malignancies. RDD is a rare entity, which might be misdiagnosed using PET-CT due to its similarities with malignant tumors. An accurate multidisciplinary approach may help to clear diagnostic clues of this uncommon disease.

KEYWORDS: Rosai-Dorfman disease, sinus histiocytosis, liver surgery, hepatectomy

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