48,453
edits
Difference between revisions of "Nevoid basal cell carcinoma syndrome"
Jump to navigation
Jump to search
Nevoid basal cell carcinoma syndrome (view source)
Revision as of 12:27, 24 October 2013
, 12:27, 24 October 2013no edit summary
(+gene) |
|||
| Line 2: | Line 2: | ||
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> | ||
*[[Keratocystic odontogenic tumour]]. | *[[Keratocystic odontogenic tumour]] ~ 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. | ||