Which disorder is characterized by axillary and inguinal freckling and café-au-lait spots, often with optic gliomas?

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Recognition hinges on a neurocutaneous pattern driven by NF1. Axillary and inguinal freckling, known as Crowe signs, together with multiple café-au-lait spots are hallmark skin findings of neurofibromatosis type 1. Optic gliomas are a classic associated tumor in children with NF1, so seeing these pigmentary changes plus possible optic pathway involvement points strongly to this disorder. The underlying genetic defect is in the NF1 gene, producing loss of neurofibromin and a spectrum of manifestations that includes cutaneous neurofibromas and other features, with autosomal dominant inheritance.

By contrast, tuberous sclerosis presents with ash-leaf hypopigmented patches and facial angiofibromas rather than prominent axillary/inguinal freckling; Sturge-Weber syndrome involves a facial port-wine stain and leptomeningeal vascular malformations with seizures; Dandy-Walker syndrome is a cerebellar malformation with hydrocephalus, not the pigmentary skin signs described.