Teen With Neurofibromatosis Type 1 Presents With Large Scrotal Mass And Large Tumor Burden

Case Report: An 11-year-old male with neurofibromatosis type 1 (NF-1) and severe kyphoscoliosis presented to our pediatric emergency department for evaluation of a large scrotal mass that was growing and causing discomfort. Upon further questioning, it was revealed that he had presented to an outside hospital for the same complaint four years prior, and had been lost to follow-up with pediatric urology. Examination was significant for a mildly dysmorphic face with widely spaced eyes and frontal bossing, multiple cafe-au-lait spots, axillary freckling, cutaneous neurofibromas and severe thoracic kyphoscoliosis. Genitourinary exam revealed …