{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:00:57Z","timestamp":1790834457369,"version":"4.1.0"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>\n                    <jats:italic>SREBF1<\/jats:italic>\n                    -associated hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant disorder involving the hair, skin, mucosa, and eyes. We report a 5-year-old boy with recurrent non-scarring alopecia beginning at 18 months of age, together with blepharokeratoconjunctivitis, dry eye, corneal ulceration, recurrent oral ulcers, and nail pitting. Hair loss repeatedly worsened during or shortly after febrile episodes, most prominently in the occipital scalp, and was followed by gradual regrowth. Clinical exome sequencing identified a heterozygous\n                    <jats:italic>SREBF1<\/jats:italic>\n                    NM_004176.5:c.1580G&amp;gt;A (p.Arg527His) variant. His father carried the same variant but had a much milder phenotype, with childhood-onset occipital and temporal alopecia and mild ocular symptoms. The variant was not detected in his clinically unaffected sister. Hair regrowth was observed after topical scalp treatment, although occipital shedding recurred during follow-up. This case adds further evidence of marked intrafamilial variability in\n                    <jats:italic>SREBF1<\/jats:italic>\n                    -associated HMD and records a recurrent pattern of hair loss temporally associated with fever.\n                  <\/jats:p>","DOI":"10.3389\/fmed.2026.1910789","type":"journal-article","created":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:40:15Z","timestamp":1790833215000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Marked intrafamilial variability and recurrent fever-associated alopecia in SREBF1-associated hereditary mucoepithelial dysplasia"],"prefix":"10.3389","volume":"13","author":[{"given":"Mingyuan","family":"Xu","sequence":"first","affiliation":[{"name":"Beijing University of Chinese Medicine","place":["Beijing, China"]},{"name":"Department of Dermatology, China-Japan Friendship Hospital , National Center for Integrative Medicine","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, China-Japan Friendship Hospital , National Center for Integrative Medicine","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonglong","family":"Xu","sequence":"additional","affiliation":[{"name":"Beijing University of Chinese Medicine","place":["Beijing, China"]},{"name":"Department of Dermatology, China-Japan Friendship Hospital , National Center for Integrative Medicine","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dingquan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, China-Japan Friendship Hospital , National Center for Integrative Medicine","place":["Beijing, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,10,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.ajhg.2020.05.006","article-title":"Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome","volume":"107","author":"Wang","year":"2020","journal-title":"Am J Hum Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1111\/pde.14560","article-title":"Ichthyosis follicularis, atrichia and photophobia (IFAP) and hereditary mucoepithelial dysplasia: two syndromes that share a common clinical spectrum","volume":"38","author":"Irurzun","year":"2021","journal-title":"Pediatr Dermatol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1049","DOI":"10.1111\/cge.70135","article-title":"Phenotypic expansion of autosomal dominant SREBF1-related ichthyosis follicularis, atrichia, photophobia: it is in fact the same condition as hereditary mucoepithelial dysplasia","volume":"109","author":"Slater","year":"2026","journal-title":"Clin Genet"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1016\/j.jid.2019.10.014","article-title":"Hereditary mucoepithelial dysplasia results from heterozygous variants at p.Arg557 mutational hotspot in SREBF1, encoding a transcription factor involved in cholesterol homeostasis","volume":"140","author":"Morice-Picard","year":"2020","journal-title":"J Invest Dermatol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1586","DOI":"10.1097\/ICO.0000000000003381","article-title":"Recurrent vascularizing keratitis in infants with hereditary mucoepithelial dysplasia related to SREBF1 mutation","volume":"42","author":"Kim","year":"2023","journal-title":"Cornea"},{"key":"B6","doi-asserted-by":"publisher","first-page":"e686","DOI":"10.1111\/1346-8138.70360","article-title":"A case of SREBF1-associated ichthyosis follicularis, alopecia, and photophobia syndrome with recurrent alopecia","volume":"53","author":"Park","year":"2026","journal-title":"J Dermatol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"e8320","DOI":"10.7759\/cureus.8320","article-title":"Telogen effluvium: a review of the literature","volume":"12","author":"Asghar","year":"2020","journal-title":"Cureus"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1596","DOI":"10.1016\/j.jid.2020.09.035","article-title":"Hereditary mucoepithelial dysplasia and autosomal-dominant IFAP syndrome is a clinical spectrum due to SREBF1 variants","volume":"141","author":"Murase","year":"2021","journal-title":"J Invest Dermatol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"103997","DOI":"10.1016\/j.jaapos.2024.103997","article-title":"Long-term follow-up of ocular involvement in hereditary mucoepithelial dysplasia","volume":"28","author":"Feizi","year":"2024","journal-title":"J AAPOS"},{"key":"B10","doi-asserted-by":"publisher","first-page":"110703","DOI":"10.1016\/j.exer.2025.110703","article-title":"Abnormal meibum is associated with SREBF1 mutation and IFAP syndrome-2","volume":"262","author":"Butovich","year":"2026","journal-title":"Exp Eye Res"}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1910789\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:40:17Z","timestamp":1790833217000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2026.1910789\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10,1]]},"references-count":10,"alternative-id":["10.3389\/fmed.2026.1910789"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2026.1910789","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10,1]]},"article-number":"1910789"}}