Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease): A Case Report and Literature Review

THIEME 406 Case Report Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease): A Case Report and Literature Review Rabindra Bhakta Pradhananga1 Kripa Dangol1 Anjan Shrestha2 1 Department of ENT-Head and Neck Surgery, Tribhuvan University Teaching Hospital, Kathmandu, Nepal 2 Department of Pathology, Tribhuvan University Teaching Hospital, Kathmandu, Nepal Dharma Kanta Baskota1 Address for correspondence Rabindra Bhakta Pradhananga, MBBS, MS (ENT- Head & Neck Surgery), Department of ENT-Head & Neck Surgery, Tribhuvan University Teaching Hospital, Kathamandu þ977, Nepal (e-mail: ; ). Int Arch Otorhinolaryngol 2014;18:406–408. Abstract Keywords ► sinus histiocytosis ► massive lymphadenopathy ► Rosai-Dorfman disease Introduction Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph node enlargement. Histologically, it shows proliferation of distinctive histiocytic cells that demonstrate emperipolesis in the background of a mixed inflammatory infiltrates. Immunohistochemically, the cells are positive for markers such as CD68 and S100. Objective To report a case of a 12-year-old patient with multiple sites of cervical lymphadenitis, which was diagnosed as RDD histopathologically as well as immunohistologically. Resumed Report A 12-year-old girl presented with multiple painless sites of cervical lymphadenitis without any systemic and other ear, nose, and throat manifestations. The biopsy report of the lymph node showed dilatation of the sinuses, filled with histiocytes having foamy cytoplasm. Many of the histiocytes were engulfing mature lymphocytes. The sinus histiocytes were strongly positive for S-100 protein. Conclusion RDD must be considered in the differential diagnosis of massive or multiple lymphadenopathies. Introduction Sinus histiocytosis with massive lymphadenopathy (SHML), which is also known as Rosai-Dorfman disease (RDD), is a rare histiocytic proliferative disorder of unknown etiology initially described by Rosai and Dorfman in 1969.1 RDD can occur in any age group but is most commonly seen in children and young adults.2 Usually it presents with massive painless lymph node enlargement at any site, with the cervical nodes being common. Histologically, lymph nodes show pericapsular fibrosis and dilated sinuses, heavily infiltrated with large histiocytes, lymphocytes, and plasma cells.1,3 Immunohistochemically, the sinus histiocytes are strongly positive for S-100 protein.4 received April 10, 2014 accepted June 29, 2014 published online August 25, 2014 DOI http://dx.doi.org/ 10.1055/s-0034-1387163. ISSN 1809-9777. Though various modes of treatment like chemotherapy, radiotherapy, and surgical debulking have been tried, all have shown limited efficacy. The course of the disease is somewhat variable, from complete spontaneous remission in some cases to protracted clinical disease for years in other cases. The possibility of involvement of vital organs leading to death is also mentioned in some cases. Review of Literature with Differential Diagnosis RDD commonly presents with massive bilateral and painless cervical lymphadenopathy with fever, night sweating, and weight loss. Extranodal involvement has been documented in Copyright © 2014 by Thieme Publicações Ltda, Rio de Janeiro, Brazil Sinus Histiocytosis with Massive Lymphadenopathy Pradhananga et al. 25 to 40% of cases, and organs such as skin, respiratory tract, reticuloendothelial system, genitourinary tract, and thyroid are commonly involved. Ju et al reported a case of RDD in a 26-year-old man with cervical and mediastinal lymphadenopathy with pleural effusion in 2009.5 Agarwal et al reviewed seven cases (five nodal and two extranodal) of RDD. Of these, five patients were followed.6 However, four had stable disease, and one developed histiocytic sarcoma after a gap of 4 years. Zhu et al found more purely extranodal RDD involving the central nervous system on retrospectively analyzing 13 cases of RDD.7 Clinically, the nodal type of RDD should be differentiated from lymphoma and any other causes of chronic lymphadenitis, such as tubercular lymphadenitis, Kikuchi-Fujimoto disease, among others. Histologically, the disease must be differentiated from Langerhans cell histiocytosis and infectious and lymphoproliferative disorders as well as sinus hyperplasia. S-100 positivity can usually distinguish between the latter condition and RDD, whereas in both conditions the histiocytes have a strong macrophage antigen expression.4 Case Report A 12-year-old girl visited the ENT & Head and Neck Surgery Out Patient Department with presentation of bilateral multiple painless swelling in neck of 2 months’ duration. She also complained of mild to moderate fever and weakness. Her general physical condition looked normal. Examination of the neck revealed enlarged lymph node on both sides (►Figs. 1 and 2). Left side examination noted level II (3  4 cm2), level III (2  1 cm2), and level V (3  3 cm2) Fig. 1 Multiple massive cervical lymphadenopathy on right side. Fig. 2 Cervical lymphadenopathy with scar on left side of neck. lymph nodes palpable with scar at a previous biopsy site (taken somewhere else). Similarly, the right side revealed level IB (3  3 cm2), level III (1  1 cm2), and level V (4  3 cm2) lymph nodes. All the lymph nodes were found to be firm, well defined, nontender, and mobile. Examination of ear, nose, oral cavity, oropharynx, and larynx revealed normal findings. Routine blood investigations revealed polymorphonuclear leukocytosis and increased erythrocyte sedimentation rate (55 mm/h). Fine Needle Aspiration Cytology (FNAC) was inconclusive. Ultrasonography (USG) of the neck showed multiple enlarged lymph nodes in both sides of the neck, suspicious of lymphoma. USG of the abdomen and pelvis showed normal findings. Because a previous biopsy taken elsewhere was inconclusive, a revision biopsy was taken and sent for histopathologic examination. Histopathology showed a gross appearance of well-encapsulated brownish tissue measuring 1.8  1.5 cm2, and cut sections showed homogenous white areas. Microscopic examination of the sections of lymph node showed dilatation of the sinuses, filled with histiocytes having foamy cytoplasm. Many of the histiocytes were seen engulfing mature lymphocytes (emperipolesis; ►Figs. 3 and 4). The histopathologic diagnosis was RDD, which was further confirmed by immunohistochemistry. The histiocytic cells were S-100-positive. The patient was started on oral prednisolone in tapering dose with continuation of low dose for 1 month. Her condition was improved at first follow-up after 1 week, and she will be followed further. International Archives of Otorhinolaryngology Vol. 18 No. 4/2014 407 408 Sinus Histiocytosis with Massive Lymphadenopathy Pradhananga et al. Fig. 3 Section with hematoxylin and eosin stain under 20  100 magnification: dilated sinuses w (...truncated)