{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T12:42:32Z","timestamp":1791463352330,"version":"4.3.4"},"reference-count":6,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T00:00:00Z","timestamp":1688083200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"VHS Medical Center Research Grant from the Republic of Korea","award":["VHSMC 22020"],"award-info":[{"award-number":["VHSMC 22020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Gorlin\u2013Goltz syndrome (basal cell nevus syndromes) is an uncommon, autosomal dominant inherited disorder characterized by developing basal cell carcinomas from a young age. Other distinct clinical features include keratocystic odontogenic tumors, dyskeratotic palmar and plantar pitting, and skeletal abnormalities. Clinicopathological findings of the syndrome are very diverse, and many symptoms manifest during a certain period of life. We present the compelling whole-body bone scan and 18F-FDG PET\/CT findings in a 32-year-old man with odontogenic keratocyst, early-onset basal cell carcinoma, multiple ectopic calcifications in extremities, calcified falx cerebri, spinal scoliosis, macrocephaly, and ocular hypertelorism.<\/jats:p>","DOI":"10.3390\/diagnostics13132239","type":"journal-article","created":{"date-parts":[[2023,6,30]],"date-time":"2023-06-30T16:08:32Z","timestamp":1688141312000},"page":"2239","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["18F-FDG PET\/CT and Whole-Body Bone Scan Findings in Gorlin\u2013Goltz Syndrome"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7469-7769","authenticated-orcid":false,"given":"Miju","family":"Cheon","sequence":"first","affiliation":[{"name":"Department of Nuclear Medicine, Veterans Health Service Medical Center, Seoul 05368, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4664-4904","authenticated-orcid":false,"given":"Jang","family":"Yoo","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, Veterans Health Service Medical Center, Seoul 05368, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyu-Bok","family":"Kang","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery, Veterans Health Service Medical Center, Seoul 05368, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"198","DOI":"10.4103\/0970-4388.19010","article-title":"Gorlin syndrome: A case report","volume":"23","author":"Patil","year":"2005","journal-title":"J. Indian Soc. Pedod. Prev. Dent."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M","article-title":"Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome","volume":"69","author":"Kimonis","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1056\/NEJM196005052621803","article-title":"Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome","volume":"262","author":"Gorlin","year":"1960","journal-title":"N. Engl. J. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10006-014-0460-7","article-title":"Gorlin-Goltz syndrome: A 25-year follow-up of a familial case","volume":"19","author":"Lazaridou","year":"2015","journal-title":"Oral Maxillofac. Surg."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1038\/jhg.2011.2","article-title":"Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: Two familial and three sporadic cases including the first Japanese patient with medulloblastoma","volume":"56","author":"Fujii","year":"2011","journal-title":"J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/S1096-7192(02)00021-5","article-title":"Novel mutations in the PATCHED gene in basal cell nevus syndrome","volume":"76","author":"Lam","year":"2002","journal-title":"Mol. Genet. Metab."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/13\/2239\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:04:14Z","timestamp":1760126654000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/13\/2239"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,30]]},"references-count":6,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2023,7]]}},"alternative-id":["diagnostics13132239"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics13132239","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,30]]}}}