Pediatr Dermatol. 2025 Jul 19. doi: 10.1111/pde.16018. Online ahead of print.
ABSTRACT
We report a child presenting with pigmentary skin lesions and spinal neurofibromas who was diagnosed molecularly with KRAS mosaicism. We review the previous literature of two cases of congenital skin lesions and neurofibromas and spinal nerve root hypertrophy caused by KRAS variants and highlight this presentation as an important differential diagnosis for neurofibromatosis.
PMID:40682439 | DOI:10.1111/pde.16018
