{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T14:05:57Z","timestamp":1785333957180,"version":"3.55.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T00:00:00Z","timestamp":1710201600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"International Center for Wound Repair"},{"DOI":"10.13039\/501100007750","name":"Regeneration at National Cheng Kung University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007750","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004844","name":"National Cheng Kung University Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004844","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Autosomal recessive congenital ichthyosis (ARCI) is a genetically heterogeneous disorder with aberrant skin scaling and increased transepidermal water loss (TEWL). Current treatments for ARCI are limited and suboptimal. We present the case of a 27-year-old man with ARCI resulting from a homozygous missense variant in TGM1. RNA-sequencing of lesional skin revealed aberrant Janus kinase\u2013signal transducer and activator of transcription signalling, providing a rationale for innovative treatment with a Janus kinase inhibitor. We prescribed oral tofacitinib (11\u2005mg daily) for 26 weeks. Rapid improvements in erythema and fissuring occurred within the first month. Sustained reductions in 5-D itch scale and Dermatology Life Quality Index scores were also observed. TEWL decreased for the first 10 weeks but increased thereafter. Tofacitinib downregulated inflammatory genes and pathways, while enhancing skin barrier markers. Moreover, transglutaminase 1 distribution was normalized although enzymatic activity remained deficient. This study suggests that oral tofacitinib may be a useful therapy to consider for patients with ARCI.<\/jats:p>","DOI":"10.1093\/ced\/llae080","type":"journal-article","created":{"date-parts":[[2024,3,12]],"date-time":"2024-03-12T08:37:37Z","timestamp":1710232657000},"page":"887-892","source":"Crossref","is-referenced-by-count":5,"title":["Tofacitinib ameliorates skin inflammation in a patient with severe autosomal recessive congenital ichthyosis"],"prefix":"10.1093","volume":"49","author":[{"given":"Yu-Chen","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University , Tainan , Taiwan"},{"name":"International Center for Wound Repair and Regeneration, College of Medicine, National Cheng Kung University , Tainan , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Kai","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University , Tainan , Taiwan"},{"name":"International Center for Wound Repair and Regeneration, College of Medicine, National Cheng Kung University , Tainan , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilson Jr F","family":"Aala","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, College of Medicine, National Cheng Kung University , Tainan , Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyotaka","family":"Hitomi","sequence":"additional","affiliation":[{"name":"Cellular Biochemistry Laboratory, Graduate School of Pharmaceutical Sciences, Nagoya University , Nagoya , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5863-9315","authenticated-orcid":false,"given":"Masashi","family":"Akiyama","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Graduate School of Medicine, Nagoya University , Nagoya , Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3708-9964","authenticated-orcid":false,"given":"John\u00a0A","family":"McGrath","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University , Tainan , Taiwan"},{"name":"International Center for Wound Repair and Regeneration, College of Medicine, National Cheng Kung University , Tainan , Taiwan"},{"name":"St John\u2019s Institute of Dermatology, School of Basic and Medical Biosciences, King\u2019s College London , London , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4365-4533","authenticated-orcid":false,"given":"Chao-Kai","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Dermatology, National Cheng Kung University Hospital, 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