{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:54:24Z","timestamp":1791431664933,"version":"4.3.3"},"reference-count":12,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genodermatosis characterized by follicular ichthyosis, alopecia, and photophobia; classical X\u2010linked disease is caused by\n                    <jats:italic>MBTPS2<\/jats:italic>\n                    variants, whereas autosomal dominant forms are associated with\n                    <jats:italic>SREBF1<\/jats:italic>\n                    variants. The severe IFAP\/BRESHECK phenotype may include brain anomalies, intellectual disability, ectodermal dysplasia, skeletal defects, Hirschsprung disease, ear and eye anomalies, cleft palate, cryptorchidism, and kidney abnormalities. We present a 7\u2010year\u2010old male patient with a collodion membrane at birth, severe ichthyosis, alopecia, neurodevelopmental impairment, Hirschsprung disease, limbal stem cell deficiency, and the hemizygous pathogenic\n                    <jats:italic>MBTPS2<\/jats:italic>\n                    variant NM_015884.4:c.1286G&gt;A (p.Arg429His). This case highlights an uncommon combination of severe manifestations within the\n                    <jats:italic>MBTPS2<\/jats:italic>\n                    \u2010related IFAP\/BRESHECK spectrum and emphasizes the importance of multidisciplinary long\u2010term follow\u2010up.\n                  <\/jats:p>","DOI":"10.1111\/pde.70352","type":"journal-article","created":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:33:26Z","timestamp":1791430406000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From Collodion Membrane to Alopecia: An Insight Into\n                    <scp>IFAP<\/scp>\n                    \/\n                    <scp>BRESHECK<\/scp>\n                    Syndrome"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2440-7210","authenticated-orcid":false,"given":"Hami","family":"Kork","sequence":"first","affiliation":[{"name":"Department of Dermatology and Venereology, Cerrahpa\u015fa Faculty of Medicine Istanbul University\u2010Cerrahpa\u015fa  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-9051-8136","authenticated-orcid":false,"given":"\u00d6mer","family":"Cacina","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, Cerrahpa\u015fa Faculty of Medicine Istanbul University\u2010Cerrahpa\u015fa  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0328-4171","authenticated-orcid":false,"given":"Tu\u011fba Kevser","family":"Uzun\u00e7akmak","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, Cerrahpa\u015fa Faculty of Medicine Istanbul University\u2010Cerrahpa\u015fa  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilek Uluda\u011f","family":"Alkaya","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Cerrahpa\u015fa Faculty of Medicine Istanbul University\u2010Cerrahpa\u015fa  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7787-3630","authenticated-orcid":false,"given":"Nilay","family":"G\u00fcne\u015f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Cerrahpa\u015fa Faculty of Medicine Istanbul University\u2010Cerrahpa\u015fa  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aynur","family":"Islamova","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5140-1926","authenticated-orcid":false,"given":"Burhan","family":"Engin","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Venereology, Cerrahpa\u015fa Faculty of Medicine Istanbul University\u2010Cerrahpa\u015fa  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Istanbul Atlas University  Istanbul T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"e_1_2_11_2_1","first-page":"165","article-title":"Three Cases of \u201cIchthyosis Follicularis\u201d Associated With Baldness","volume":"21","author":"MacLeod J. M. H.","year":"1909","journal-title":"British Journal of Dermatology"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967\u2010021\u201002779\u20105"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.014"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.05.006"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20108628(19970211)68:4<386::AID\u2010AJMG2>3.0.CO;2\u2010K"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.2147\/CCID.S439288"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20108628(19980724)78:4<371::AID\u2010AJMG13>3.0.CO;2\u2010F"},{"key":"e_1_2_11_9_1","unstructured":"Online Mendelian Inheritance in Man (OMIM) \u201cIFAP Syndrome 1 With or Without BRESHECK Syndrome; OMIM #308205 \u201daccessed July 23 2026 McKusick\u2010Nathans Institute of Genetic Medicine Johns Hopkins University Baltimore MD https:\/\/omim.org\/entry\/308205."},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/pde.14560"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.70135"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1684\/ejd.2024.4806"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468\u20103083.2005.01318.x"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70352","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.70352","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70352","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T03:33:28Z","timestamp":1791430408000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.70352"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,7]]},"references-count":12,"alternative-id":["10.1111\/pde.70352"],"URL":"https:\/\/doi.org\/10.1111\/pde.70352","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,7]]},"assertion":[{"value":"2026-01-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-10-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"pde.70352"}}