Asch Sarah, Sugarman Jeffrey L
Department of Dermatology, HealthPartners and Park Nicollet Medical Groups, St. Paul, MN, USA.
Department of Dermatology, University of California, San Francisco, Santa Rosa, CA, USA.
Pediatr Dermatol. 2018 Jan;35(1):21-29. doi: 10.1111/pde.13273. Epub 2017 Oct 16.
Knowledge of the molecular underpinnings of many epidermal nevi and epidermal nevus syndrome has expanded rapidly in recent years. In this review and update on epidermal nevus syndrome, we will cover recent genetic discoveries involving epidermal nevi, including nevus sebaceus, keratinocytic epidermal nevus, nevus comedonicus, congenital hemidysplasia with ichthyosiform nevus and limb defects syndrome, phakomatosis pigmentokeratotica, Becker's nevus, porokeratotic adnexal ostial nevus, inflammatory linear verrucous epidermal nevi, and cutaneous-skeletal hypophosphatemia syndrome. We will discuss how newly defined mutations relate to the biology reflected in the cutaneous patterns seen in these mosaic disorders and how new molecular data has informed our understanding of these diseases and shaped management decisions.
近年来，人们对许多表皮痣和表皮痣综合征的分子基础的认识迅速扩展。在本次对表皮痣综合征的综述及更新中，我们将涵盖近期涉及表皮痣的遗传学发现，包括皮脂腺痣、角质形成细胞表皮痣、黑头粉刺痣、鱼鳞病样痣伴肢体缺损综合征、色素角化性错构瘤病、贝克尔痣、汗孔角化性附属器开口痣、炎性线状疣状表皮痣以及皮肤 - 骨骼低磷血症综合征。我们将讨论新定义的突变如何与这些嵌合性疾病的皮肤表现所反映的生物学特征相关，以及新的分子数据如何增进我们对这些疾病的理解并影响治疗决策。
