title: First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities.
abstract: Epidermal nevus syndrome (ENS) is a term used to describe the occurrence of an epidermal nevus in association with other extra-cutaneous developmental anomalies, most commonly involving the nervous and musculoskeletal systems. The nevus is classified on the basis of the main component which may be keratinocytic, sebaceous, follicular, apocrine, or eccrine. Most patients who present with ENS is at the time of birth, though some become apparent later in life. This case describes a young female who presented with seizures and cognitive impairment along with a linear epidermal nevus on the midline of her face. The presence of the nevus prompted brain imaging which showed cortical dysplasia, multiple hamartomas in the temporal lobe, thalamus, and periventricular regions along with cerebellar atrophy and Dandy-Walker variant. To our knowledge, this is the first case in which three different types of brain lesions were found in the same patient.
authors.affiliation: Internal Medicine, University of Arizona, Tucson, AZ.
authors.forename: Waqas
authors.initials: W
authors.lastname: Ullah
authors.affiliation: Internal Medicine, Khyber Teaching Hospital, Peshawar, Pakistan.
authors.forename: Hafez Mohammad A
authors.initials: HM
authors.lastname: Abdullah
authors.affiliation: Internal Medicine, Hayatabad Medical Complex, Peshawar, Pakistan.
authors.forename: Muhammad A
authors.initials: MA
authors.lastname: Shahzad
authors.affiliation: Internal Medicine, Khyber Teaching Hospital, Peshawar, Pakistan.
authors.forename: Muhammad Aslam
authors.initials: MA
authors.lastname: Sadiq
authors.affiliation: Internal Medicine, Nishtar Hospital, Multan, Pakistan.
authors.forename: Ejaz
authors.initials: E
authors.lastname: Ahmad
authors.affiliation: Internal Medicine, Griffin Hospital.
authors.forename: Sana
authors.initials: S
authors.lastname: Khan
keywords: cerebellar atrophy; cortical dysplasia; dandy walker; epidermal nevus syndrome