{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T20:37:02Z","timestamp":1770410222132,"version":"3.49.0"},"reference-count":4,"publisher":"PAGEPress Publications","license":[{"start":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T00:00:00Z","timestamp":1770163200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Dermatol Reports"],"abstract":"<jats:p>Dear Editor,\nGermline loss-of-function variants in SUFU (MIM*607035), a component of the Hedgehog (HH) signaling pathway, have been associated with multiple hereditary infundibulocystic basal cell carcinoma (iBCC, MIM#604451). This is a yet undefined clinicopathological entity with features that are often distinct from basal cell nevus syndrome (BCNS, MIM#109400). In carriers of germline SUFU variants, basaloid neoplasms tend to arise at a later age compared with BCNS; the iBCC subtype is more frequently observed, and jaw cysts have not been reported. [...]<\/jats:p>","DOI":"10.4081\/dr.2026.10662","type":"journal-article","created":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:33:06Z","timestamp":1770219186000},"source":"Crossref","is-referenced-by-count":0,"title":["Multiple hereditary infundibolocystic basal cell carcinoma: report of a sporadic case with a novel pathogenic germline variant in &lt;i&gt;SUFU&lt;\/i&gt;"],"prefix":"10.4081","author":[{"given":"Giulia","family":"Pascolini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Floriddia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Fania","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Bellei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Eibenschutz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vito","family":"Gomes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Castiglia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2549","published-online":{"date-parts":[[2026,2,4]]},"reference":[{"key":"35955","doi-asserted-by":"crossref","unstructured":"1. Schulman JM, Oh DH, Sanborn JZ, et al. Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a Germline SUFU Mutation. JAMA Dermatol 2016;152:323-7.","DOI":"10.1001\/jamadermatol.2015.4233"},{"key":"35956","doi-asserted-by":"crossref","unstructured":"2. Abbott JJ, Jiang AJ, Godse R, et al. Inherited Basaloid Neoplasms Associated with SUFU Pathogenic Variants. JAMA Dermatol 2024;160:1220-4.","DOI":"10.1001\/jamadermatol.2024.3315"},{"key":"35957","doi-asserted-by":"crossref","unstructured":"3. Lee SG, Evans G, Stephen M, et al. Medulloblastoma and other neoplasms in patients with heterozygous germline SUFU variants: A scoping review. Am J Med Genet A 2024;194:e63496.","DOI":"10.1002\/ajmg.a.63496"},{"key":"35958","doi-asserted-by":"crossref","unstructured":"4. Sun Q, Atzmony L, Zaki T, et al. Clues to primary vismodegib resistance lie in histology and genetics. J Clin Pathol 2020;73:678-80.","DOI":"10.1136\/jclinpath-2020-206448"}],"container-title":["Dermatology Reports"],"original-title":[],"link":[{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/10662\/9863","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/download\/10662\/9863","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:40:56Z","timestamp":1770219656000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.pagepress.net\/dr\/article\/view\/10662"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,4]]},"references-count":4,"URL":"https:\/\/doi.org\/10.4081\/dr.2026.10662","relation":{},"ISSN":["2036-7406","2036-7392"],"issn-type":[{"value":"2036-7406","type":"electronic"},{"value":"2036-7392","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2,4]]}}}