Difference between revisions of "Nevoid basal cell carcinoma syndrome"
Jump to navigation
Jump to search
(+images) |
(+gene) |
||
| 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. | '''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> | ||
Features:<ref name=Ref_Derm435>{{Ref Derm|435}}</ref> | Features:<ref name=Ref_Derm435>{{Ref Derm|435}}</ref> | ||
Revision as of 01:54, 31 May 2012
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]
Features:[2]
- Basal cell carcinoma.
- Keratocystic odontogenic tumour.
- Bony abnormalities: bifid ribs, scoliosis + others.
- Falx cerebri calcification.
- Characteristic faces.
- Medulloblastoma.[3]
- Ovarian fibroma.[3]
Images:
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 601309
- ↑ Busam, Klaus J. (2009). Dermatopathology: A Volume in the Foundations in Diagnostic Pathology Series (1st ed.). Saunders. pp. 435. ISBN 978-0443066542.
- ↑ 3.0 3.1 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.