{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:00:29Z","timestamp":1791388829308,"version":"4.3.3"},"reference-count":51,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2018,7,2]],"date-time":"2018-07-02T00:00:00Z","timestamp":1530489600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recessive X\u2010linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the <jats:italic>STS<\/jats:italic> gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85%\u201090% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next\u2010generation sequencing analysis. Neuropsychiatric, ophthalmological and paediatric evaluations were also performed. Our survey showed a frequent presence of disease manifestations at birth (42.8%). Fold and palmoplantar surfaces were involved in 18 (51%) and 7 (20%) patients, respectively. Fourteen patients (42%) presented neuropsychiatric symptoms, including attention\u2010deficit hyperactivity disorder and motor disabilities. In addition, two patients with mental retardation were shown to be affected by a contiguous gene syndrome. Twenty\u2010seven patients had a complete <jats:italic>STS<\/jats:italic> deletion, one a partial deletion and 7 carried missense mutations, two of which previously unreported. In addition, a de novo <jats:italic>STS<\/jats:italic> deletion was identified in a sporadic case. The frequent presence of palmoplantar and fold involvement in XLI should be taken into account when considering the differential diagnosis with ichthyosis vulgaris. Our findings also underline the relevance of involving the neuropsychiatrist in the multidisciplinary management of XLI. Finally, we report for the first time a de novo mutation which shows that <jats:italic>STS<\/jats:italic> deletion can also occur in oogenesis.<\/jats:p>","DOI":"10.1111\/exd.13667","type":"journal-article","created":{"date-parts":[[2018,4,19]],"date-time":"2018-04-19T16:22:45Z","timestamp":1524154965000},"page":"1156-1163","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["X\u2010linked ichthyosis: Clinical and molecular findings in 35 Italian patients"],"prefix":"10.1111","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0879-9825","authenticated-orcid":false,"given":"Andrea","family":"Diociaiuti","sequence":"first","affiliation":[{"name":"Dermatology Unit Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriano","family":"Angioni","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Pisaneschi","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viola","family":"Alesi","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanna","family":"Zambruno","sequence":"additional","affiliation":[{"name":"Istituto Dermopatico dell'Immacolata IDI\u2010IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May","family":"El Hachem","sequence":"additional","affiliation":[{"name":"Dermatology Unit Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,2]]},"reference":[{"key":"e_1_2_8_2_1","first-page":"45","volume":"8","author":"Lundborg H.","year":"1927","journal-title":"Hereditas"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1965.01600130007001"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5493.947"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000071784"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2588"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2133.1999.03098.x"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2004-0003"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2009.11.020"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057729"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0384-4"},{"key":"e_1_2_8_12_1","first-page":"25","volume":"171","author":"Voss M.","year":"1985","journal-title":"Dermatol. Monatsschr."},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.07.001"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1985.tb02315.x"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1977.tb15427.x"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1159\/000249332"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jid.2017.08.047"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13863"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.52.3.217"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0b013e318298e176"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0164417"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1176\/ajp.2007.164.6.942"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ridd.2013.05.027"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1461145701002462"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000073626"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.psyneuen.2011.06.006"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-183X.2010.00672.x"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00924.x"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2001.01259.x"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21581"},{"key":"e_1_2_8_31_1","first-page":"25","volume":"27","author":"Abdel\u2010Hamid M. S.","year":"2016","journal-title":"Genet. Couns."},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-3083.2010.03612.x"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12872703"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2007.08405.x"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.10.838"},{"key":"e_1_2_8_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31451"},{"key":"e_1_2_8_37_1","doi-asserted-by":"publisher","DOI":"10.3346\/jkms.2012.27.10.1273"},{"key":"e_1_2_8_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.13231"},{"key":"e_1_2_8_39_1","first-page":"483","volume":"50","author":"Basler E.","year":"1992","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_8_40_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.33.20756"},{"key":"e_1_2_8_41_1","doi-asserted-by":"publisher","DOI":"10.1080\/000155501750208227"},{"key":"e_1_2_8_42_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2003.17851.x"},{"key":"e_1_2_8_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200003)15:3<296::AID-HUMU17>3.0.CO;2-#"},{"key":"e_1_2_8_44_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3704"},{"key":"e_1_2_8_45_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12319777"},{"key":"e_1_2_8_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2015.09.004"},{"key":"e_1_2_8_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2011.03.011"},{"key":"e_1_2_8_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.jid.5700971"},{"key":"e_1_2_8_49_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0022-202x.2001.01507.x"},{"key":"e_1_2_8_50_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0029500"},{"key":"e_1_2_8_51_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2000.00004.x"},{"key":"e_1_2_8_52_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdermsci.2013.12.012"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fexd.13667","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.13667","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/exd.13667","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/exd.13667","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T09:34:36Z","timestamp":1694252076000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/exd.13667"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,2]]},"references-count":51,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1111\/exd.13667"],"URL":"https:\/\/doi.org\/10.1111\/exd.13667","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,2]]},"assertion":[{"value":"2018-04-12","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-07-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}