Abstract：
Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ichthyosis, characterized by generalized erythema, blistering, and scaling at birth evolving to widespread hyperkeratosis. We present an updated review of reported cases of linear epidermal nevi with EHK exhibiting transmission of epidermolytic ichthyosis to guide important considerations in the care of individuals with epidermal nevi. Clinical characteristics of linear epidermal nevi do not reliably predict the presence of EHK. All reported cases of transmission to offspring have occurred in individuals with linear epidermal nevi involving more than one anatomic area suggesting increased reproductive risk with involvement of two or more anatomic sites. Therefore, genetics consultation is recommended for these individuals with biopsy-confirmed EHK. For individuals with smaller areas of epidermal nevus involvement, the implications are less well known, though genetics consultation may still be considered for those interested in further discussion of general reproductive risk.
摘要：
表皮痣是常见的良性皮肤错构瘤，很少有表皮角化过度（EHK）的组织病理学证据。代表致病性角蛋白变体的皮肤镶嵌性。很少,具有线性表皮痣的个体将EHK的遗传形式传递给他们的孩子，也被称为表皮性鱼鳞病，以全身性红斑为特征，起泡，出生时的鳞屑演变成广泛的角化过度。我们提供了有关EHK表现出表皮性鱼鳞病传播的线性表皮痣病例的最新综述，以指导表皮痣患者护理的重要考虑因素。线性表皮痣的临床特征不能可靠地预测EHK的存在。所有报告的传播给后代的病例都发生在涉及一个以上解剖区域的线性表皮痣的个体中，这表明涉及两个或多个解剖部位的生殖风险增加。因此,对于这些经活检证实的EHK患者,建议进行遗传学咨询.对于表皮痣受累面积较小的个体，其含义鲜为人知，尽管对于那些有兴趣进一步讨论一般生殖风险的人，仍可能考虑遗传学咨询。
