title: Papular Epidermal Nevus with "Skyline" Basal Cell Layer Syndrome - Natural Course: Case Report and Literature Review.
abstract: Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease. Another hypothesis is that genetic mutation can occur in a mendelian trait or through a paradominant inheritance.
authors.affiliation: Faculty of Medicine, University of Basel, Basel, Switzerland.
authors.forename: Carole Anouk
authors.initials: CA
authors.lastname: Zahn
authors.affiliation: Department of Dermatology, University Hospital Basel, Basel, Switzerland; Department of Biomedicine, University Hospital Basel, Basel, Switzerland.
authors.forename: Peter
authors.initials: P
authors.lastname: Itin
keywords: Epileptic seizures; Gonadal mosaicism; Hyperkeratotic papules and plaques; Mild mental retardation; Natural course; Neurocutaneous syndrome; Papular epidermal nevus with “skyline” basal cell layer; Paradominant inheritance