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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 (<jats:italic>STS<\/jats:italic>), 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 <jats:italic>STS<\/jats:italic> 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.<\/jats:p>","DOI":"10.1111\/ijd.17396","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T04:16:35Z","timestamp":1722485795000},"page":"51-61","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Revisiting X\u2010linked congenital ichthyosis"],"prefix":"10.1111","volume":"64","author":[{"given":"Baishun","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Pathology School of Medicine, Hunan Normal University  Changsha People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cancan","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Pathology School of Medicine, Hunan Normal University  Changsha People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peiyao","family":"Li","sequence":"additional","affiliation":[{"name":"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4765-2597","authenticated-orcid":false,"given":"Heng","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pathology School of Medicine, Hunan Normal University  Changsha People's Republic of China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,31]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1999.03098.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.04.028"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-0964-y"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000071784"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2011.10685.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2011.07.006"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2013.12.012"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-3162"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2005.06367.x"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0164417"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12340321"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.1998.00386.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000249332"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-4362.1981.tb05280.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.2165\/00128071-200405010-00004"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0b013e318298e176"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-017-0423-5"},{"issue":"11","key":"e_1_2_6_19_1","first-page":"595","article-title":"A case of steroid sulfatase deficiency complicated by bilateral undescended testis","volume":"62","author":"Okusa T","year":"2016","journal-title":"Hinyokika Kiyo"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-012-1712-x"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2005.08.015"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000313507"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2000.00650.x"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2015.4674"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1111\/1346-8138.14537"},{"issue":"1","key":"e_1_2_6_26_1","first-page":"25","article-title":"Co\u2010occurrence of primary microcephaly caused by a novel homozygous ASPM mutation along with X\u2010linked ichthyosis in the same patient","volume":"27","author":"Abdel\u2010Hamid MS","year":"2016","journal-title":"Genet Couns"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3704"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057729"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13256-017-1420-2"},{"issue":"3","key":"e_1_2_6_30_1","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1159\/000250264","article-title":"X\u2010linked ichthyosis. 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