Which neurocutaneous disorder features café-au-lait spots, neurofibromas, and Lisch nodules?

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This pattern of skin findings with eye and nerve involvement identifies Neurofibromatosis type 1. NF1 is an autosomal dominant condition caused by mutations in the NF1 gene, which encodes neurofibromin, a tumor suppressor that helps regulate cell growth. The classic presentation includes café-au-lait macules, multiple neurofibromas (or a plexiform neurofibroma), and Lisch nodules—pigmented hamartomas of the iris detectable on slit-lamp exam. Lisch nodules are a key ocular clue that helps confirm the diagnosis, typically alongside the skin findings. Additional features can include axillary or inguinal freckling and, less commonly, optic pathway gliomas or bone lesions. This combination distinguishes NF1 from other neurocutaneous disorders: Neurofibromatosis type 2 centers on bilateral vestibular schwannomas; Sturge-Weber features a facial port-wine stain with brain vascular involvement; tuberous sclerosis shows ash-leaf spots, facial angiofibromas, and cortical tubers.