{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T14:03:21Z","timestamp":1784901801103,"version":"3.55.0"},"reference-count":4,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,24]]},"abstract":"<jats:p>Keratosis follicularis spinulosa decalvans is a rare, predominantly X-linked disorder typically associated with MBTPS2 variants. It is characterized by follicular keratosis, cicatricial alopecia and variable ocular involvement. We describe a 32-year-old man with a novel hemizygous MBTPS2 variant (c.375_389del). He presented with ulerythema ophryogenes, erythromelanosis faciei et colli, widespread keratosis pilaris, and multiple facial epidermoid cysts. This report highlights overlapping phenotypic features across the keratosis pilaris atrophicans spectrum and expands the clinical manifestations linked to MBTPS2 mutations.<\/jats:p>","DOI":"10.1093\/ced\/llag189","type":"journal-article","created":{"date-parts":[[2026,4,26]],"date-time":"2026-04-26T11:35:16Z","timestamp":1777203316000},"page":"1572-1574","source":"Crossref","is-referenced-by-count":0,"title":["Discovery of a novel hemizygous c.375_389del variant in\u00a0the\n                    <i>MBTPS2<\/i>\n                    gene in a male patient with\u00a0keratosis follicularis spinulosa decalvans"],"prefix":"10.1093","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2295-1152","authenticated-orcid":false,"given":"Yunus","family":"Ozcan","sequence":"first","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Duzce University , Duzce ,","place":["T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7825-3816","authenticated-orcid":false,"given":"Sevgi","family":"\u0130l\u00e7in","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Duzce University , Duzce ,","place":["T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mustafa","family":"Dogan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Ba\u015fak\u015fehir \u00c7am and Sakura City Hospital , \u0130stanbul ,","place":["T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Belk\u0131z","family":"Uyar","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Faculty of Medicine, Duzce University , Duzce ,","place":["T\u00fcrkiye"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,4,28]]},"reference":[{"key":"2026072409161744400_llag189-B1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.ejmg.2008.09.005","article-title":"Keratosis pilaris atrophicans: clinical findings and molecular basis","volume":"52","author":"Castori","year":"2009","journal-title":"Eur J Med Genet"},{"key":"2026072409161744400_llag189-B2","doi-asserted-by":"crossref","first-page":"809","DOI":"10.2340\/00015555-2976","article-title":"Desmoglein 4 mutation underlies autosomal recessive keratosis pilaris atrophicans","volume":"98","author":"Cohen-Barak","year":"2018","journal-title":"Acta Derm Venereol"},{"key":"2026072409161744400_llag189-B3","first-page":"33","article-title":"Overlap of keratosis pilaris atrophicans and erythromelanosis follicularis faciei et colli","volume":"25","author":"Al Aboud","year":"2015","journal-title":"Skin J Dermatol Venereol"},{"key":"2026072409161744400_llag189-B4","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/j.ajhg.2009.03.014","article-title":"Novel mutations in MBTPS2 cause a broad spectrum of X-linked follicular disorders, including keratosis follicularis spinulosa decalvans and ichthyosis follicularis, alopecia, and photophobia syndrome","volume":"84","author":"Oeffner","year":"2009","journal-title":"Am J Hum Genet"}],"container-title":["Clinical and Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ced\/advance-article-pdf\/doi\/10.1093\/ced\/llag189\/68181678\/llag189.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/51\/8\/1572\/68181678\/llag189.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/51\/8\/1572\/68181678\/llag189.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T13:16:23Z","timestamp":1784898983000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ced\/article\/51\/8\/1572\/8664350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,28]]},"references-count":4,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2026,4,28]]},"published-print":{"date-parts":[[2026,7,24]]}},"URL":"https:\/\/doi.org\/10.1093\/ced\/llag189","relation":{},"ISSN":["0307-6938","1365-2230"],"issn-type":[{"value":"0307-6938","type":"print"},{"value":"1365-2230","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,8]]},"published":{"date-parts":[[2026,4,28]]}}}