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Difference between revisions of "Nevoid basal cell carcinoma syndrome"
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Nevoid basal cell carcinoma syndrome (view source)
Revision as of 17:17, 26 May 2022
, 17:17, 26 May 2022change tumour to cyst again (KOT was renamed to odontogenic keratocyst)
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(change tumour to cyst again (KOT was renamed to odontogenic keratocyst)) |
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'''Nevoid basal cell carcinoma syndrome''', also '''Gorlin syndrome''' and '''Gorlin-Goltz syndrome''', is a constellation of findings due to an autosomal dominant genetic mutation. | [[Image:Basal_cell_carcinoma_-_2_-_intermed_mag.jpg|thumb|right|Basal cell carcinoma, a component of NBCCS. [[H&E stain]].]] | ||
'''Nevoid basal cell carcinoma syndrome''', also '''Gorlin syndrome''' and '''Gorlin-Goltz syndrome''', is a constellation of findings due to an autosomal dominant genetic mutation. The gene is ''patched'' and abbreviated ''PTCH1''.<ref name=omim601309>{{OMIM|601309}}</ref> | |||
It is abbreviated '''NBCCS'''. | |||
Features:<ref name=Ref_Derm435>{{Ref Derm|435}}</ref> | Features:<ref name=Ref_Derm435>{{Ref Derm|435}}</ref> | ||
*[[Basal cell carcinoma]]. | *[[Basal cell carcinoma]] - on average have their first tumour in their 20s.<ref name=pmid9096761>{{Cite journal | last1 = Kimonis | first1 = VE. | last2 = Goldstein | first2 = AM. | last3 = Pastakia | first3 = B. | last4 = Yang | first4 = ML. | last5 = Kase | first5 = R. | last6 = DiGiovanna | first6 = JJ. | last7 = Bale | first7 = AE. | last8 = Bale | first8 = SJ. | title = Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. | journal = Am J Med Genet | volume = 69 | issue = 3 | pages = 299-308 | month = Mar | year = 1997 | doi = | PMID = 9096761 }}</ref> | ||
*[[ | *[[Odontogenic keratocyst]] ~ 80% individuals with NBCCS have had one by age 20.<ref name=pmid9096761/> | ||
*Bony abnormalities: bifid ribs, scoliosis + others. | *Bony abnormalities: bifid ribs, scoliosis + others. | ||
*Falx cerebri calcification. | *Falx cerebri calcification. | ||
*Characteristic faces. | *Characteristic faces. | ||
*[[Medulloblastoma]].<ref name=Ref_PBoD8_1181>{{Ref PBoD8|1181}}</ref> | |||
*[[Ovarian fibroma]].<ref name=Ref_PBoD8_1181>{{Ref PBoD8|1181}}</ref> | |||
Images: | |||
*[http://path.upmc.edu/cases/case109/micro.html NBCCS (upmc.edu)]. | |||
==See also== | ==See also== | ||
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==References== | ==References== | ||
{{reflist| | {{reflist|2}} | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||