{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T12:35:56Z","timestamp":1793104556252,"version":"4.5.0"},"reference-count":10,"publisher":"Oxford University Press (OUP)","issue":"11","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AR068392"],"award-info":[{"award-number":["R01AR068392"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Yale University School of Medicine","id":[{"id":"https:\/\/ror.org\/03v76x132","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/100017785","name":"Pediatric Dermatology Research Alliance","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017785","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Epidermal differentiation disorders (EDDs) are a heterogeneous group of disorders characterized by scaling and erythema. SDR9C7 encodes a short-chain dehydrogenase involved in epidermal differentiation and vitamin A metabolism, and pathogenic variants in this gene are a rare cause of nonsyndromic EDD (nEDD). To further delineate the clinical phenotype of SDR9C7-nEDD, we report eight individuals with SDR9C7 variants enrolled in the National Registry for Ichthyosis and Related Skin Disorders. Common features included fine scaling, hyperlinear palms and greater severity on the extremities, especially the lower extremities. One individual showed plate-like scale and palmoplantar keratoderma (skin thickening of the palms and soles), highlighting phenotypic diversity. Hypohidrosis, impaired thermoregulation, frequent dermatophyte skin and nail infections, and otological findings were common, whereas ectropion and scalp involvement were absent. Topical emollients containing ammonium lactate or alpha-hydroxy acids improved scaling and dryness. Hydrocortisone reduced pruritus in some patients, with one patient with a severe case requiring systemic retinoids. These findings expand the clinical spectrum of SDR9C7-nEDD.<\/jats:p>","DOI":"10.1093\/ced\/llag270","type":"journal-article","created":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T11:43:23Z","timestamp":1782215003000},"page":"2074-2078","source":"Crossref","is-referenced-by-count":0,"title":["Cutaneous features of\n                    <i>SDR9C7<\/i>\n                    variants in eight individuals with autosomal recessive nonsyndromic epidermal differentiation disorders"],"prefix":"10.1093","volume":"51","author":[{"given":"Caroline","family":"Echeandia-Francis","sequence":"first","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela J","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9891-6353","authenticated-orcid":false,"given":"Xingyuan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Soltani","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Northwestern University Feinberg School of Medicine , Chicago, IL ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn","family":"Siegel","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Stanford University School of Medicine , Stanford, CA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Siegfried","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Saint Louis University School of Medicine , St Louis, MO ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah N","family":"Robinson","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Tufts University School of Medicine , Boston, MA ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy S","family":"Paller","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Northwestern University Feinberg School of Medicine , Chicago, IL ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith A","family":"Choate","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]},{"name":"Department of Pathology, Yale University School of Medicine , New Haven, CT ,","place":["USA"]},{"name":"Department of Genetics, Yale University School of Medicine , New Haven, CT 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in a Pakistani family","volume":"177","author":"Karim","year":"2017","journal-title":"Br J Dermatol"},{"key":"2026102707591873000_llag270-B7","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1172\/JCI130675","article-title":"SDR9C7 catalyzes critical dehydrogenation of acylceramides for skin barrier formation","volume":"130","author":"Takeichi","year":"2020","journal-title":"J Clin Invest"},{"key":"2026102707591873000_llag270-B8","doi-asserted-by":"crossref","first-page":"e62","DOI":"10.1111\/bjd.15315","article-title":"Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7","volume":"177","author":"Takeichi","year":"2017","journal-title":"Br J Dermatol"},{"key":"2026102707591873000_llag270-B9","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1111\/bjd.18211","article-title":"Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive 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