Delayed Diagnosis of Epidermal Nevus Syndrome Associated With Substantial Brain Malformations: A Case Report and Review of the Literature

Epidermal nevus syndrome (ENS) often describes a spectrum of different clinical and histologic subtypes of epidermal nevi as well as their genetic and systemic associations. Although the true incidence of ENS is unknown, it is estimated that 8% to 18% of patients with epidermal nevi have systemic disorders. We report a case of ENS in adulthood; on further workup, our patient was found to have substantial central nervous system (CNS) abnormalities. This case highlights the necessity of appropriate workup in patients presenting with epidermal nevi at any age.