Difference between revisions of "Nevoid basal cell carcinoma syndrome"

From Libre Pathology
Jump to navigation Jump to search
(+images)
(change tumour to cyst again (KOT was renamed to odontogenic keratocyst))
 
(4 intermediate revisions by the same user not shown)
Line 1: Line 1:
'''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>
*[[Keratocystic odontogenic tumour]].
*[[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.

Latest revision as of 17:17, 26 May 2022

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.[1]

It is abbreviated NBCCS.

Features:[2]

Images:

See also

References

  1. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 601309
  2. ↑ Busam, Klaus J. (2009). Dermatopathology: A Volume in the Foundations in Diagnostic Pathology Series (1st ed.). Saunders. pp. 435. ISBN 978-0443066542.
  3. ↑ 3.0 3.1 Kimonis, VE.; Goldstein, AM.; Pastakia, B.; Yang, ML.; Kase, R.; DiGiovanna, JJ.; Bale, AE.; Bale, SJ. (Mar 1997). "Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.". Am J Med Genet 69 (3): 299-308. PMID 9096761.
  4. ↑ 4.0 4.1 Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson; Aster, Jon (2009). Robbins and Cotran pathologic basis of disease (8th ed.). Elsevier Saunders. pp. 1181. ISBN 978-1416031215.
Retrieved from "https://librepathology.org/w/index.php?title=Nevoid_basal_cell_carcinoma_syndrome&oldid=52058"