Medical Student Research Forum Posters

• Epidermal nevi (EN) are benign congenital skin lesions derived from a postzygotic mutation in a subset of pluripotential embryonic cells (mosaicism).

• The lesions tend to arrange in a whirlwind pattern representing the migration of the pluripotent cells, known as lines of Blaschko.

• The distribution and extent of EN varies greatly ranging from a single linear lesion to systemic involvement.

• More extensive lesions are highly associated with musculoskeletal and nervous system abnormalities, making up what is known as Epidermal Nevus Syndrome.

• Not only do the extent of the lesions vary greatly, but so do the underlying genetic mutations demonstrating the difficulties in defining a clear phenotype-genotype model.

• These mutations include FGFR3, PIK3CA, and HRAS