Giant Perineal Plexiform Neurofibroma in an 8-Year-Old African Male

Background: The perineal presentation of plexiform neurofibroma is exceptional, with only two cases reported to date. Case report: We present an 8-year-old African male with a large perineal tumor of years of evolution. He had no associated symptoms. Cafe au lait stains were observed on examination, without other findings of relevance. The patient had no preoperative radiological studies. Partial excision of the lesion was performed. Histopathological study of the specimen revealed a plexiform neurofibroma. Discussion: The lack of diagnostic suspicion due to the atypical nature of the location, the anatomical complexity of surgical resection and the potential urological and rectal involvement make this lesion a diagnostic-therapeutic challenge. Among the differential diagnoses, schwannoma, congenital lipoma, hamartoma and lipoblastoma should be considered.