Cardiac Involvement of Rosai-Dorfman Disease Causing an Aesthetic Problem in a Young Woman

摘要

A 32-year-old woman was referred to our ENT clinics for theevaluation of multiple symmetrical swellings in her neck. In thepatient’s family history, there was cross-cousin marriage betweenher grandparents. The patient and her sister had severe hearing lossand type 1 diabetes mellitus since their childhood. The patient alsohad symmetric hyperpigmented and erythema nodosum-like lesionson the anterior surface of the lower extremities which would suggestthat she has an immune system disorder (Figure 1a). The head andneck examination revealed bilateral symmetrical firm, painless, andfairly mobile periparotid and submandibulary masses (Figure 1b).Magnetic resonance imaging (MRI) scans on the neck revealedconglomerated lymph nodes of a size 45x27 mm on the right parotidregion and 37x22 mm on the left and also a solid lymph node of asize 26x18 mm on the right submandibular region and 21x18 on theleft. According to the patient’s blood sample tests, C-reactive proteinand rythrocyte sedimentation rate were high, while capillary proteinelectrophoresis showed polyclonal hypergammaglobulinemia. Antithyroglobulin,anti-thyroid peroxidase, and anti-nuclear antigenwere also positive. The patient’s cardiac MRI showed that therewas a uniform contoured mass lesion which is adherent to theinterventricular septum with a protrusion through the right ventricularlumen, having the size of 10x15 mm. Compared with the myocardium,it had a hyperintense appearance in the T2-weighted series and ahomogenously enhancing mass lesion after IV contrast materialinjection (Figure 2). Besides, similar mass lesions were observed inthe anterior mediastinum. The masses on the neck did not cause anyproblems other than cosmetic appearance, so excisional biopsy fromthe parotid and submandibular regions was performed for diagnosisand cosmetic reconstruction. The histopathological evaluationshowed that the normal layout of the lymph node was impaired dueto the marked enlargement of the lymph sinuses and there are alsonumerous lymphocytes, plasma cells, and large vesicular nucleihistiocytes within. Most of these histiocytes have intact lymphocytes and plasma cells in their cytoplasm, which is significant for thediagnosis of Rosai-Dorfman disease (RDD), which are referredto as “emperipolesis” or “lymphocytophagocytosis” (Figures 3aand 3b). During the 24-month follow-up period, the size of themediastinal and intracardiac masses did not change and the skinlesions were not activated. For this report, an informed writtenconsent was obtained from the patient.