Lilly Evelyn, Bunick Christopher G
Department of Dermatology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, 02114, USA.
Department of Dermatology and Program in Translational Biomedicine, Yale School of Medicine, New Haven, CT, 06520, USA.
Clin Cosmet Investig Dermatol. 2023 Sep 11;16:2473-2479. doi: 10.2147/CCID.S388608. eCollection 2023.
Congenital ichthyoses are a group of hereditary disorders of keratinization that are challenging to treat. Affected individuals suffer not only from thickening of the skin but also associated complications such as growth restriction, hearing and eye complications, infections, and thermodysregulation. This clinical review provides a practical roadmap to the longitudinal care of patients with ichthyosis with both general and age- and disease-specific recommendations. The allure of pathogenesis-based and targeted treatments for these monogenetic severe but orphan conditions shines bright as dermatological therapies enter a new era.
先天性鱼鳞病是一组角化遗传性疾病,治疗颇具挑战性。受影响的个体不仅会出现皮肤增厚,还会伴有生长受限、听力和眼部并发症、感染以及体温调节障碍等相关并发症。本临床综述为鱼鳞病患者的长期护理提供了实用指南,涵盖了一般建议以及针对不同年龄和疾病的具体建议。随着皮肤病治疗进入新时代,基于发病机制的靶向治疗对于这些单基因严重罕见病的吸引力愈发显著。