Acta Derm Venereol. 2020 Mar 25;100(7):adv00094. doi: 10.2340/00015555-3430.
Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar keratodermas are grouped depending on the morphology of the keratoderma into diffuse, focal/striate or papular/punctate. Some palmoplantar keratodermas just affect the skin of the palms and soles and others have associated syndromic features which include changes in hair, teeth, nails, hearing loss or cardiomyopathy. Next generation sequencing has helped discover genes involved in many of these conditions and has led to reclassification of some palmoplantar keratodermas. In this review, we discuss the diagnostic features of palmoplantar keratodermas and management options.
遗传性单基因掌跖角化过度症是一组异质性疾病，其特征为掌跖皮肤的表皮持续性增厚。根据角化过度的形态，掌跖角化过度症可分为弥漫性、局灶性/条纹状或丘疹状/点状。一些掌跖角化过度症仅影响手掌和脚底的皮肤，而另一些则伴有综合征特征，包括毛发、牙齿、指甲、听力损失或心肌病的改变。下一代测序技术有助于发现许多此类疾病相关的基因，并导致一些掌跖角化过度症的重新分类。在这篇综述中，我们讨论了掌跖角化过度症的诊断特征和治疗选择。
