Papular Epidermal Nevus with “Skyline” Basal Cell Layer Syndrome – Natural Course: Case Report and Literature Review

• Main Authors: Carole Anouk Zahn, Peter Itin
• Format: Article
• Language: English
• Published: Karger Publishers 2017-01-01
• Series: Case Reports in Dermatology
• Subjects: 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
• Online Access: http://www.karger.com/Article/FullText/454757

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.