Song Qiuhe, Zhang Chaowen, Xu Pengfei, Wang Jianqiao, Liao Fangfang, Xiao Qipeng, Mao Yousheng
Department of Dermatology, Affiliated Hospital of Jiujiang University, Jiujiang, China.
Jiujiang Clinical Precision Medicine Research Center, Affiliated Hospital of Jiujiang University, Jiujiang, China.
Front Med (Lausanne). 2025 May 23;12:1542909. doi: 10.3389/fmed.2025.1542909. eCollection 2025.
Hidradenitis suppurativa and Dowling-Degos disease are two independent rare diseases with characteristic clinical manifestations. The gene encodes a critical subunit of the -secretase complex, mutations of which can independently or concurrently lead to hidradenitis suppurativa and Dowling-Degos disease. Given the rarity of pathogenic mutations in the general population, further elucidation of their relationship with these conditions is warranted. We conducted an investigation on a multigenerational Chinese family encompassing 14 members, all of whom exhibited clinical manifestations of both hidradenitis suppurativa and Dowling-Degos disease. Diagnosis was established through pedigree analysis, clinical assessment, pathological examination, Twist whole-exome sequencing and Sanger sequencing. Genetic analysis revealed a deletion mutation (c.66delG) in the gene located on chromosome 19, marking this mutation being associated with the clinical manifestations of both diseases. Additionally, this article reviews existing literature and discusses the potential systemic comorbidities associated with mutations in relation to the clinical phenotypes of skin diseases. These findings contribute novel insights into genotype-phenotype correlations involving the gene, expanding our understanding of these complex dermatologic disorders at the molecular level.
化脓性汗腺炎和道林-迪戈斯病是两种具有特征性临床表现的独立罕见病。该基因编码γ-分泌酶复合物的一个关键亚基，其突变可独立或同时导致化脓性汗腺炎和道林-迪戈斯病。鉴于一般人群中致病突变的罕见性，有必要进一步阐明它们与这些疾病的关系。我们对一个包含14名成员的多代中国家系进行了调查，所有成员均表现出化脓性汗腺炎和道林-迪戈斯病的临床表现。通过系谱分析、临床评估、病理检查、Twist全外显子测序和桑格测序进行诊断。基因分析发现位于19号染色体上的该基因存在一个缺失突变（c.66delG），表明该突变与两种疾病的临床表现相关。此外，本文回顾了现有文献，并讨论了与该基因突变相关的潜在全身合并症及其与皮肤病临床表型的关系。这些发现为涉及该基因的基因型-表型相关性提供了新的见解，在分子水平上扩展了我们对这些复杂皮肤病的理解。
