We report the case of a child with Rosai-Dorfman disease (RDD) with severe lymphopenia and oral papillomatosis. RDD is a rare, idiopathic disorder characterized by proliferation of histiocytes. This condition is believed to be a reactive process. Immune mediated causes have been postulated, however there is no consistent immunologic defect found.

Our patient is a nine year male diagnosed with RDD at nine months of age with initial presentation of massive cervical lymphadenopathy. RDD was confirmed by histiopathologic and immunochemistry findings on a superficial lymph node biopsy. There is no history of recurrent infections. Previous treatment has involved steroid therapy, 6-mercaptopurine, and oral methotrexate with recurrence of symptoms. The patient has been off immunomodulatory therapy for two years.

Clinical evaluation revealed multiple papular and filliform pale colored lesions on the lips and oral mucosa as well as massive cervical adenopathy. Recent immunologic evaluation revealed decreased CD3 (426 mm3/38%), CD4 (168 mm3/15%), and CD8 (204 mm3/18%) cells, normal B cells, normal lymphocyte proliferation studies, hypergammaglobulinemia and excellent specific antibody responses. HIV serology was negative.

In summary, we report the case of a child with Rosai-Dorfman disease with a significant T-cell lymphopenia (predominantly CD3/CD4) and oral papillomatosis. To our knowledge, there are no reported cases of RDD associated with significant lymphopenia and papillomatosis.