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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.
摘要：
带有“天际线”基底细胞层（PENS）的丘疹表皮痣是一种非常罕见的角质形成细胞痣，在大约50％的病例中与诸如神经系统症状等皮肤外发现有关。因此,它也被称为PENS综合征。临床上可见的过度角化丘疹和斑块在出生时或出生后不久就已经出现，而癫痫和智力低下等神经系统症状在儿童时期表现出来。遗传学表明性腺镶嵌是该疾病的可能原因。另一个假设是，基因突变可以发生在孟德尔性状中或通过副词遗传。
