Zhou Baishun, Liang Cancan, Li Peiyao, Xiao Heng
Department of Pathology, School of Medicine, Hunan Normal University, Changsha, People's Republic of China.
Key Laboratory of Carcinogenesis and Cancer Invasion of Ministry of Education, China NHC Key Laboratory of Carcinogenesis, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.
Int J Dermatol. 2025 Jan;64(1):51-61. doi: 10.1111/ijd.17396. Epub 2024 Jul 31.
X-linked recessive ichthyosis (XLI) is a hereditary skin disease characterized by generalized dryness and scaling of the skin, with frequent extracutaneous manifestations. It is the second most common type of ichthyosis, with a prevalence of 1/6,000 to 1/2,000 in males and without any racial or geographical differences. The causative gene for XLI is the steroid sulfatase gene (STS), located on Xp22.3. STS deficiency causes an abnormal cholesterol sulfate (CS) accumulation in the stratum corneum (SC). Excess CS induces epidermal permeability barrier dysfunction and scaling abnormalities. This review summarizes XLI's genetic, clinical, and pathological features, pathogenesis, diagnosis and differential diagnoses, and therapeutic perspectives. Further understanding the role of the STS gene pathogenic variants in XLI may contribute to a more accurate and efficient clinical diagnosis of XLI and provide novel strategies for its treatment and prenatal diagnosis.
X连锁隐性鱼鳞病（XLI）是一种遗传性皮肤病，其特征为皮肤普遍干燥和脱屑，并常有皮肤外表现。它是第二常见的鱼鳞病类型，男性患病率为1/6000至1/2000，且无任何种族或地理差异。XLI的致病基因是位于Xp22.3的类固醇硫酸酯酶基因（STS）。STS缺乏导致角质层（SC）中硫酸胆固醇（CS）异常蓄积。过量的CS会导致表皮通透性屏障功能障碍和脱屑异常。本文综述了XLI的遗传、临床和病理特征、发病机制、诊断与鉴别诊断以及治疗前景。进一步了解STS基因致病变异在XLI中的作用，可能有助于更准确、高效地对XLI进行临床诊断，并为其治疗和产前诊断提供新策略。
