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.

Keywords

• Papular epidermal nevus with “skyline” basal cell layer
• Hyperkeratotic papules and plaques
• Neurocutaneous syndrome
• Mild mental retardation
• Epileptic seizures
• Gonadal mosaicism
• Paradominant inheritance
• Natural course