{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:19:11Z","timestamp":1763036351722,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,8]]},"abstract":"<jats:p>Gorlin syndrome is an autosomal dominant multisystem disorder characterised by multiple basal cell naevi, cysts of the jaw, pits of the palms and soles, skeletal anomalies, and various other defects. Patients with Gorlin syndrome have a predisposition to basal cell carcinomas and other neoplasms. This is the first report to describe the coexistence of Gorlin syndrome and a nasal dermoid cyst. A 4 year old girl was diagnosed with medulloblastoma and treated with surgery and radiation therapy. A genetic evaluation was sought because of the brain tumour, multiple small naevi localised mostly on the upper torso, and rib abnormalities. Biopsies of several naevi showed naevoid basal cell carcinoma. Past medical history was significant for a midline nasal punctum noted at birth. The significance of this finding was unrecognised until the dermoid cyst enlarged, just before the diagnosis of her brain tumour. A common tissue of origin exists between basal cell naevi, cysts of the jaw, and dermoid cysts. We propose that the association of these two rare conditions in one patient is not a chance occurrence.<\/jats:p>","DOI":"10.1136\/jmg.33.8.704","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"704-706","source":"Crossref","is-referenced-by-count":15,"title":["Gorlin syndrome associated with midline nasal dermoid cyst."],"prefix":"10.1136","volume":"33","author":[{"given":"E K","family":"Pivnick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A W","family":"Walter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M D","family":"Lawrence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M E","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1097\/00005792-198703000-00002","article-title":"Nevoid basal cell carcinoma syndrome","volume":"66","author":"Gorlin, R.J.","year":"1987","unstructured":"Gorlin RJ. 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Dermatol Clin 1995;13:113-25.","journal-title":"Dermatol Clin"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1136\/jmg.30.6.460","article-title":"Complications of the nevoid basal cell carcinoma syndrome: results of a population based study","volume":"30","author":"Evans, D.G.R.; Ladusans, E.J.; Rimmer, S.","year":"1993","unstructured":"Evans DGR, Ladusans EJ, Rimmer S, et al. Complications of the nevoid basal cell carcinoma syndrome: results of a population based study. JMed Genet 1993;30:460-4.","journal-title":"JMed Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/0002-9378(63)90094-2","article-title":"Ovarian fibromas and mesenteric cysts: their association with hereditary basal cell cancer of the skin","volume":"87","author":"Clendenning, W.E.; Herdt, JR, Block; J.B.","year":"1963","unstructured":"Clendenning WE, Herdt JR, Block JB. Ovarian fibromas and mesenteric cysts: their association with hereditary basal cell cancer of the skin. Am J Obstet Gynecol 1963;87: 1008-12.","journal-title":"Am J Obstet Gynecol"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1001\/archderm.1987.01660250027006","article-title":"Familial subconjunctival epithelial cysts associated with the nevoid basal cell carcinoma syndrome","volume":"123","author":"Levine, D.J.; Robertson, D.B.; Varma, V.A.","year":"1987","unstructured":"Levine DJ, Robertson DB, Varma VA. Familial subconjunctival epithelial cysts associated with the nevoid basal cell carcinoma syndrome. Arch Dermatol 1987;123:23-4.","journal-title":"Arch Dermatol"},{"issue":"1","key":"ref_7","first-page":"11","article-title":"Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9","volume":"69","author":"Gailani, M.R.; Bale, S.J.; Deffell, D.J.","year":"1992","unstructured":"Gailani MR, Bale SJ, Deffell DJ, et al. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell 1992;69:1 11-17.","journal-title":"Cell"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/ng0196-85","article-title":"A two-hit model for developmental defects in Gorlin syndrome","volume":"12","author":"Levanat, S.; Gorlin, R.J.; Fallett, S.","year":"1996","unstructured":"Levanat S, Gorlin RJ, Fallett S, et al. A two-hit model for developmental defects in Gorlin syndrome. Nature Genet 1996;12:85-7.","journal-title":"Nature Genet"},{"key":"ref_9","first-page":"17","article-title":"Median dermoid cyst. NZDental3t","volume":"88","author":"James, P.; Worthington, J.P.; Sinclair, J.H.","year":"1991","unstructured":"James P, Worthington JP, Sinclair JH. Median dermoid cyst. NZDental3t 1991;88:17-19."},{"key":"ref_10","first-page":"488","article-title":"Dermoid cysts of the nose","volume-title":"Mayo Clin Proc 1967; 42","author":"Taylor, B.W.; Erich, J.B.","unstructured":"Taylor BW, Erich JB. Dermoid cysts of the nose. Mayo Clin Proc 1967;42:488-94."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.8.704","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:17:57Z","timestamp":1759720677000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.8.704"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,8]]},"references-count":10,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1996,8,1]]},"published-print":{"date-parts":[[1996,8]]}},"alternative-id":["10.1136\/jmg.33.8.704"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.8.704","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1996,8]]}}}