Petukhova Lynn, Colvin Annelise, Koerts Nicole D K, Horváth Barbara
The Ronald O. Perelman Department of Dermatology, NYU Grossman School of Medicine, NYU Langone Health, New York, NY, USA.
Department of Population Health, NYU Grossman School of Medicine, NYU Langone Health, New York, NY, USA.
Br J Dermatol. 2025 Feb 3;192(Supplement_1):i22-i29. doi: 10.1093/bjd/ljae399.
Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition with many unmet needs. It is characterized by significant clinical heterogeneity, which suggests that a diagnosis of HS captures multiple distinct disease entities and that research aimed at identifying medically relevant HS subtypes will improve its management. Precision medicine is an approach to disease management that uses information encoded in a patient's genome, and operationalized in clinical presentations and drug responses, to identify disease subtypes. Prior research aimed at identifying HS subtypes has largely focused on phenotypic classifications derived from clinical features of cutaneous lesions. Limitations of existing HS taxonomies emphasize a need for a more nuanced understanding of disease subtypes. Evidence that has emerged from initial genetic studies of HS suggests the presence of at least three HS subtypes, each of which has different clinical implications in terms of disease risks and drug responses. These preliminary findings are instructive in terms of expanding our definitions of HS phenotypes to not only include characteristics of skin lesions, but also disease comorbidities and molecular and cellular phenotypes. Here we provide a comprehensive review of HS phenotype and genotype knowledge, and propose a strategic framework for implementing precision medicine in HS management. Future research should focus on expanding phenotype assessments to include data on multiple scales. Iterative research designs performed with phenotype and genotype data from large diverse cohorts are needed to rigorously define clinically relevant HS subtypes.
化脓性汗腺炎（HS）是一种存在诸多未满足需求的慢性炎症性皮肤病。其特点是具有显著的临床异质性，这表明HS的诊断涵盖了多个不同的疾病实体，且旨在确定与医学相关的HS亚型的研究将改善其治疗管理。精准医学是一种疾病管理方法，它利用患者基因组中编码的信息，并在临床表现和药物反应中得以应用，以识别疾病亚型。先前旨在识别HS亚型的研究主要集中在源自皮肤病变临床特征的表型分类上。现有HS分类法的局限性凸显了对疾病亚型进行更细致入微理解的必要性。HS初步遗传学研究中出现的证据表明至少存在三种HS亚型，每种亚型在疾病风险和药物反应方面都有不同的临床意义。这些初步发现对于扩展我们对HS表型的定义具有指导意义，即不仅要包括皮肤病变的特征，还要包括疾病共病以及分子和细胞表型。在此，我们对HS表型和基因型知识进行全面综述，并提出在HS治疗管理中实施精准医学的战略框架。未来的研究应专注于扩展表型评估，以纳入多尺度数据。需要对来自大量不同队列的表型和基因型数据进行迭代研究设计，以严格定义临床相关的HS亚型。
