{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T14:36:25Z","timestamp":1775918185261,"version":"3.50.1"},"reference-count":38,"publisher":"MJS Publishing, Medical Journals Sweden AB","license":[{"start":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T00:00:00Z","timestamp":1753401600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Derm Venereol"],"abstract":"<jats:p>Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients. To broaden the knowledge of clinical and genetic characteristics of inherited ichthyosis and to optimize disease diagnosis and therapies, cases diagnosed with inherited ichthyosis in 1 tertiary centre from 2019 to 2023 were collected, excluding ichthyosis vulgaris and X-linked recessive ichthyosis, genomic sequencing was then performed, and clinical details of the patients were assessed. A total of 35 patients from Jiangsu and Anhui provinces of China were enrolled, 31 of whom were diagnosed with non-syndromic ichthyosis. Within this group, there were cases of autosomal recessive congenital ichthyosis (18\/31), epidermolytic ichthyosis (9\/31), and superficial epidermolytic ichthyosis (4\/31). Additionally, 4 patients were diagnosed with syndromic ichthyosis, comprising 1 case of Chanarin\u2013Dorfman syndrome and 3 cases of Netherton syndrome. The genetic analysis revealed a total of 47 variants across 13 genes, of which 19 were identified as novel variants. This study describes the clinical spectrum of rare inherited ichthyosis in the Jiangsu-Anhui region of China and further expands the genetic characteristics of the disease.<\/jats:p>","DOI":"10.2340\/actadv.v105.41100","type":"journal-article","created":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T11:43:46Z","timestamp":1753443826000},"page":"adv41100","source":"Crossref","is-referenced-by-count":1,"title":["The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases"],"prefix":"10.2340","volume":"105","author":[{"given":"Ruiyu","family":"Xiang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yihe","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuya","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Di","family":"Hua","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ran","family":"Mo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiming","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1183","published-online":{"date-parts":[[2025,7,25]]},"reference":[{"key":"118911","doi-asserted-by":"crossref","unstructured":"Guti\u00e9rrez-Cerrajero C, Sprecher E, Paller AS, Akiyama M, Mazereeuw-Hautier J, Hern\u00e1ndez-Mart\u00edn A, et al. Ichthyosis. Nat Rev Dis Primers 2023; 9: 2.","DOI":"10.1038\/s41572-022-00412-3"},{"key":"118912","doi-asserted-by":"crossref","unstructured":"Sybert VP, Dale BA, Holbrook KA. Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol 1985; 84: 191\u2013194.","DOI":"10.1111\/1523-1747.ep12264813"},{"key":"118913","doi-asserted-by":"crossref","unstructured":"Mohandas T, Shapiro LJ, Sparkes RS, Sparkes MC. Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci U S A 1979; 76: 5779\u20135783.","DOI":"10.1073\/pnas.76.11.5779"},{"key":"118914","doi-asserted-by":"crossref","unstructured":"Park JS, Saeidian AH, Youssefian L, Kondratuk KE, Pride HB, Vahidnezhad H, et al. Inherited ichthyosis as a paradigm of rare skin disorders: genomic medicine, pathogenesis, and management. J Am Acad Dermatol 2023; 89: 1215-1226.","DOI":"10.1016\/j.jaad.2022.08.012"},{"key":"118915","doi-asserted-by":"crossref","unstructured":"Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, et al. The genomic and phenotypic landscape of ichthyosis: an analysis of 1000 kindreds. JAMA Dermatol 2022; 158: 16\u201325.","DOI":"10.1001\/jamadermatol.2021.4242"},{"key":"118916","doi-asserted-by":"crossref","unstructured":"Simpson JK, Martinez-Queipo M, Onoufriadis A, Tso S, Glass E, Liu L, et al. Genotype\u2013phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis. Br J Dermatol 2020; 182: 729\u2013737.","DOI":"10.1111\/bjd.18211"},{"key":"118917","doi-asserted-by":"crossref","unstructured":"Cheng R, Liang J, Li Y, Zhang J, Ni C, Yu H, et al. Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese. Clin Genet 2020; 97: 770\u2013778.","DOI":"10.1111\/cge.13704"},{"key":"118918","unstructured":"Liu J, Chen Z, Hu L, Song Z, Mo R, Tsang LS, et al. Investigation of Nagashima-type palmoplantar keratoderma in China:"},{"key":"118919","doi-asserted-by":"crossref","unstructured":"https:\/\/doi.org\/10.1111\/1346-8138.16621","DOI":"10.1111\/1346-8138.16621"},{"key":"118920","doi-asserted-by":"crossref","unstructured":"Liu Y, Tan Y, Liu J, Song Z, Hu L, Mo R, et al. Novel and founder variants of SERPINA12 in Chinese patients with autosomal recessive palmoplantar keratoderma. Br J Dermatol 2022; 187: 267\u2013270.","DOI":"10.1111\/bjd.21064"},{"key":"118921","doi-asserted-by":"crossref","unstructured":"Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype\/phenotype correlations and of pathogenetic concepts. Hum Mutat 2010; 31: 1090\u20131096.","DOI":"10.1002\/humu.21326"},{"key":"118922","doi-asserted-by":"crossref","unstructured":"Liu Y, Mo R, Chen Z, Yang Y. Novel variants in ABCA12 cause erythrokeratodermia variabilis. Br J Dermatol 2024; 190: 454.","DOI":"10.1093\/bjd\/ljad494"},{"key":"118923","unstructured":"liu Y, Chen ZM, Yang Y. Chanarin\u2013Dorfman syndrome: the first case reported in China. Chin J Dermatol 2021; 54: 673\u2013676."},{"key":"118924","doi-asserted-by":"crossref","unstructured":"Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, et al. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science 1995; 267: 525\u2013528.","DOI":"10.1126\/science.7824952"},{"key":"118925","doi-asserted-by":"crossref","unstructured":"Lef\u00e9vre C, Audebert S, Jobard F, Bouadjar B, Lakhdar H, Boughdene-Stambouli O, et al. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 2003; 12: 2369\u20132378.","DOI":"10.1093\/hmg\/ddg235"},{"key":"118926","doi-asserted-by":"crossref","unstructured":"Jobard F, Lef\u00e8vre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, et al. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002; 11: 107\u2013113.","DOI":"10.1093\/hmg\/11.1.107"},{"key":"118927","doi-asserted-by":"crossref","unstructured":"Radner FP, Marrakchi S, Kirchmeier P, Kim GJ, Ribierre F, Kamoun B, et al. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genet 2013; 9: e1003536.","DOI":"10.1371\/journal.pgen.1003536"},{"key":"118928","doi-asserted-by":"crossref","unstructured":"Lef\u00e8vre C, Bouadjar B, Ferrand V, Tadini G, M\u00e9garban\u00e9 A, Lathrop M, et al. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 2006; 15: 767\u2013776.","DOI":"10.1093\/hmg\/ddi491"},{"key":"118929","doi-asserted-by":"crossref","unstructured":"Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, et al. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis. Am J Hum Genet 2011; 88: 482\u2013487.","DOI":"10.1016\/j.ajhg.2011.02.011"},{"key":"118930","doi-asserted-by":"crossref","unstructured":"Lef\u00e8vre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, et al. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 2004; 13: 2473\u20132482.","DOI":"10.1093\/hmg\/ddh263"},{"key":"118931","doi-asserted-by":"crossref","unstructured":"Grall A, Guagu\u00e8re E, Planchais S, Grond S, Bourrat E, Hausser I, et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012; 44: 140\u2013147.","DOI":"10.1038\/ng.1056"},{"key":"118932","doi-asserted-by":"crossref","unstructured":"Shigehara Y, Okuda S, Nemer G, Chedraoui A, Hayashi R, Bitar F, et al. Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis. Hum Mol Genet 2016; 25: 4484\u20134493.","DOI":"10.1093\/hmg\/ddw277"},{"key":"118933","doi-asserted-by":"crossref","unstructured":"Klar J, Schweiger M, Zimmerman R, Zechner R, Li H, T\u00f6rm\u00e4 H, et al. Mutations in the fatty acid transport protein 4 gene cause the ichthyosis prematurity syndrome. Am J Hum Genet 2009; 85: 248\u2013253.","DOI":"10.1016\/j.ajhg.2009.06.021"},{"key":"118934","doi-asserted-by":"crossref","unstructured":"Heinz L, Kim GJ, Marrakchi S, Christiansen J, Turki H, Rauschendorf MA, et al. Mutations in SULT2B1 cause autosomal-recessive congenital ichthyosis in humans. Am J Hum Genet 2017; 100: 926\u2013939.","DOI":"10.1016\/j.ajhg.2017.05.007"},{"key":"118935","doi-asserted-by":"crossref","unstructured":"Kirchmeier P, Zimmer A, Bouadjar B, R\u00f6sler B, Fischer J. Whole-exome-sequencing reveals small deletions in CASP14 in patients with autosomal recessive inherited ichthyosis. Acta Derm Venereol 2017; 97: 102\u2013104.","DOI":"10.2340\/00015555-2510"},{"key":"118936","doi-asserted-by":"crossref","unstructured":"Mohamad J, Samuelov L, Malchin N, Rabinowitz T, Assaf S, Malki L, et al. Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population. Exp Dermatol 2021; 30: 1290\u20131297.","DOI":"10.1111\/exd.14345"},{"key":"118937","doi-asserted-by":"crossref","unstructured":"Nagtzaam IF, van Leersum FS, Kouwenberg LCM, Blok MJ, Vreeburg M, Steijlen PM, et al. STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity. Br J Dermatol 2022; 187: 820\u2013822.","DOI":"10.1111\/bjd.21775"},{"key":"118938","doi-asserted-by":"crossref","unstructured":"Shearer Z, White G, Steed JZ, Brown C, Venable T, Baber M. A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris. Clin Case Rep 2023; 11: e7910.","DOI":"10.1002\/ccr3.7910"},{"key":"118939","doi-asserted-by":"crossref","unstructured":"Hotz A, Kopp J, Bourrat E, Oji V, S\u00fc\u00dfmuth K, Komlosi K, et al. Mutational spectrum of the ABCA12 gene and genotype-phenotype correlation in a cohort of 64 patients with autosomal recessive congenital ichthyosis. Genes (Basel) 2023; 14.","DOI":"10.3390\/genes14030717"},{"key":"118940","doi-asserted-by":"crossref","unstructured":"Rossel SVJ, Clabbers JMK, Steijlen PM, van den Akker PC, Spuls PI, Middelkamp Hup MA, et al. Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions. J Eur Acad Dermatol Venereol 2023; 37: e1405\u2013e1409.","DOI":"10.1111\/jdv.19340"},{"key":"118941","doi-asserted-by":"crossref","unstructured":"Terrinoni A, Sala G, Bruno E, Pitolli C, Minieri M, Pieri M, et al. Partial loss of function ABCA12 mutations generate reduced deposition of glucosyl-ceramide, leading to patchy ichthyosis and erythrodermia resembling erythrokeratodermia variabilis et progressiva (EKVP). Int J Mol Sci 2023; 24.","DOI":"10.3390\/ijms241813962"},{"key":"118942","unstructured":"Liu J, Chen ZM, Yang Y. Mutation analysis of the PNPLA1 gene in three families with congenital ichthyosiform erythroderma. Chin J Dermatol 2022; 55: 685\u2013689."},{"key":"118943","doi-asserted-by":"crossref","unstructured":"Rothnagel JA, Dominey AM, Dempsey LD, Longley MA, Greenhalgh DA, Gagne TA, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992; 257: 1128\u20131130.","DOI":"10.1126\/science.257.5073.1128"},{"key":"118944","doi-asserted-by":"crossref","unstructured":"Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, et al. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. Nat Genet 1994; 7: 485\u2013490.","DOI":"10.1038\/ng0894-485"},{"key":"118945","doi-asserted-by":"crossref","unstructured":"Choate KA, Lu Y, Zhou J, Choi M, Elias PM, Farhi A, et al. Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (New York, NY) 2010; 330: 94\u201397.","DOI":"10.1126\/science.1192280"},{"key":"118946","doi-asserted-by":"crossref","unstructured":"Pan Y, Feng C, Wang H, Lee M, Tang Z, Lin Z. Ichthyosis with confetti caused by new and recurrent mutations in KRT10 associated with varying degrees of keratin 10 mis-localization. J Dermatol Sci 2020; 98: 35\u201340.","DOI":"10.1016\/j.jdermsci.2020.02.005"},{"key":"118947","doi-asserted-by":"crossref","unstructured":"Chavanas S, Bodemer C, Rochat A, Hamel-Teillac D, Ali M, Irvine AD, et al. Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet 2000; 25: 141\u2013142.","DOI":"10.1038\/75977"},{"key":"118948","doi-asserted-by":"crossref","unstructured":"Huang X, Chen Z-M, Yang Y. Homozygous nonsense mutation in SDR9C7 in a Chinese patient with autosomal recessive congenital ichthyosis. Int J Dermatol Venereol 2023; 6: 52\u201354.","DOI":"10.1097\/JD9.0000000000000236"}],"container-title":["Acta Dermato-Venereologica"],"original-title":[],"link":[{"URL":"https:\/\/medicaljournalssweden.se\/actadv\/article\/download\/41100\/50842","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/medicaljournalssweden.se\/actadv\/article\/download\/41100\/50842","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T11:43:53Z","timestamp":1753443833000},"score":1,"resource":{"primary":{"URL":"https:\/\/medicaljournalssweden.se\/actadv\/article\/view\/41100"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,25]]},"references-count":38,"URL":"https:\/\/doi.org\/10.2340\/actadv.v105.41100","relation":{},"ISSN":["1651-2057","0001-5555"],"issn-type":[{"value":"1651-2057","type":"electronic"},{"value":"0001-5555","type":"print"}],"subject":[],"published":{"date-parts":[[2025,7,25]]}}}