Mazereeuw-Hautier Juliette, Paller Amy S, Dreyfus Isabelle, Sprecher Eli, O'Toole Edel, Bodemer Christine, Akiyama Masashi, Diociaiuti Andrea, El Hachem Maya, Fischer Judith, Gonzalez-Sarmiento Rogelio, Gutiérrez-Cerrajero Carlos, Ott Hagen, Has Cristina, Jonca Nathalie, Granier Tournier Céline, Milesi Sarah, Texier Hélène, Martinez Ana, Traupe Heiko, Salavastru Carmen Maria, Schmuth Matthias, Giehl Kathrin, Aldwin Mandy, Anton Morales Ruth, Santos Saturnino, Morren Marie-Anne, Audouze Anne, Malhotra Raman, Veldman Karin, Narbutt Joanna, Süßmuth Kira, Hernandez-Martin Angela, Gostynski Antoni
CHU Toulouse, Dermatology, Centre de Référence des Maladies Rares de la Peau, Toulouse, Occitanie, France.
Br J Dermatol. 2025 Jun 20;193(1):16-27. doi: 10.1093/bjd/ljaf076.
In 2019, a group of experts published the first European guidelines for the management of congenital ichthyoses after a multidisciplinary expert meeting held in 2016. An update of these guidelines and literature search was planned every 5 years, given the clinical, molecular and therapeutic advances, including the use of biologic therapies. We present here updated guidelines that have been developed by a reorganized multidisciplinary group of international experts. The evidence is based on a systematic review of recent literature, discussions and consensus reached at an expert conference held in June 2023. The guidelines provide summarized evidence and expert-based recommendations that aim to guide clinicians in the management of these rare and often complex diseases. These guidelines consist of two sections. This Part one covers topical and systemic therapies (including oral retinoids, biologics and Janus kinase inhibitors), future therapeutic approaches, psychosocial management, telemedicine, communicating the diagnosis and genetic counselling, prenatal diagnosis and preimplantation genetic testing.
2019年,一组专家在2016年召开多学科专家会议后发布了首部欧洲先天性鱼鳞病管理指南。鉴于临床、分子和治疗方面的进展,包括生物疗法的应用,计划每5年对这些指南进行更新并开展文献检索。我们在此展示由重组后的多学科国际专家小组制定的更新指南。证据基于对近期文献的系统综述、2023年6月召开的专家会议上的讨论及达成的共识。这些指南提供了总结性证据和基于专家的建议,旨在指导临床医生管理这些罕见且通常复杂的疾病。这些指南分为两个部分。第一部分涵盖局部和全身治疗(包括口服维甲酸、生物制剂和 Janus 激酶抑制剂)、未来治疗方法、心理社会管理、远程医疗、诊断告知和遗传咨询、产前诊断和植入前基因检测。