Familial Papular Epidermal Nevus with “Skyline” Basal Cell Layer

Abstract

Papular epidermal nevus with "skyline" basal cell layer (PENS), a novel keratinocytic nevus, has recently been described as a mosaic condition with varying presentations. We herein describe typical PENS lesions, which usually occur sporadically, affecting two members of the same family. The concept of paradominant inheritance is proposed to explain the paradox of occasional transmission of normally sporadically occurring traits.

Papular Epidermal Nevus with Skyline Basal Cell Layer (PENS): Three New Cases and Review of the Literature

“…Five of these developed lesions soon after birth, and in the three remaining cases, the exact age at appearance of the lesions was not mentioned. The number of lesions was variable (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). Eight patients (42%) had extracutaneous findings, mainly mild developmental or psychomotor delay.…”

Syndrome PENS (papular epidermal nevus with “skyline” basal cell layer)

“…Les lésions sont congénitales ou apparaissent avant l'âge de 3 mois. Elles surviennent généralement de façon sporadique mais une atteinte familiale de premier degré est mentionnée dans deux observations [1,5]. L'hamartome PENS se caractérise par de petites plaques centimétriques en nombre variable (1 à 18), siégeant avec prédilection sur les membres, parfois sur le tronc, le visage ou le cou.…”

Familial papular epidermal nevus with “skyline” basal cell layer

“…Tadini et al described two siblings with PENS, one with isolated skin lesions and the other with combined neurologic disorders. A report by Brena et al included a mother and son with isolated skin manifestations. Recently, Zahn et al reported 2 brothers with cutaneous PENS lesions and neurologic symptoms only in the younger brother.…”