Juvenile xanthogranuloma presenting as a testicular mass in infancy: a clinical and pathologic study of three cases

Juvenile xanthogranulomas (JXG) is a histiocytic disorder whose most common clinical presentation is a solitary cutaneous nodule in a child under 5 years of age, but it has come to be recognized that solitary extracutaneous lesions may present in a number of sites, including the soft tissues and various organs. Involvement of the genitourinary tract has been documented in children with multifocal or systemic JXG. The current report describes our experience with 3 cases of JXG presenting as a solitary mass in the testicle of infants between 2.5 and 13 months without manifestations of JXG elsewhere. The masses were intratesticular and had an infiltrative pattern of interstitial growth by mononuclear, histiocyte-like cells with replacement of seminiferous tubules and involvement of the epididymis whose pattern resembled leukemic and lymphomatous involvement of the testis. Because extracutaneous lesions of JXG may have few or no Touton giant cells, immunohistochemistry is an important adjunct to the histopathologic diagnosis. One of the previous 2 cases in the literature of JXG of the testis recurred after partial resection without an orchiectomy. Neither of the 2 youngest patients has experienced a local recurrence of JXG elsewhere in excess of 1 year since the original orchiectomy. The oldest patient, who was treated with partial orchiectomy, remains free of recurrence after 3 months of follow-up. Though uncommon, JXG joins several other distinctive neoplasms presenting in the infantile testis.