Dowling–Degos disease (DDD) is a rare autosomal‐dominant genodermatosis and it has been associated with hidradenitis suppurativa (HS). Deregulation of NOTCH pathway has been linked to the development of HS in DDD context (DDD‐HS). However, molecular alterations in DDD‐HS, including altered gene expression of NOTCH and downstream effectors that are involved in the follicular differentiation and inflammatory response, are poorly defined. We report two cases of patients diagnosed with DDD‐HS, one of those, under Adalimumab treatment. Our results have shown downregulation of NOTCH1/NCSTN pathway, distinct molecular profiles of inflammatory cytokines (IL23A and TNF), and a novel aberrant upregulation of genes involved in the cornified envelope (CE) formation (SPRR1B, SPRR2D, SPRR3, and IVL) in paired HS lesions of two DDD patients.

中文翻译：

---

两名Dowling-Degos病性化脓性汗腺炎患者的NOTCH通路，炎性细胞因子和角化基因的失控

Dowling-Degos病（DDD）是一种罕见的常染色体显性遗传病，与化脓性汗腺炎（HS）有关。在DDD背景下（DDD-HS），NOTCH通路的失控与HS的发展有关。但是，DDD-HS的分子变化（包括与卵泡分化和炎症反应有关的NOTCH和下游效应子的基因表达变化）的定义不明确。我们报告了2例经阿达木单抗治疗的诊断为DDD-HS的患者，其中一例。我们的结果表明，NOTCH1 / NCSTN途径的下调，炎性细胞因子的独特分子谱（IL23A和TNF），以及两名DDD患者的成对HS病变中与角化包膜（CE）形成有关的基因（SPRR1B，SPRR2D，SPRR3和IVL）出现新的异常上调。