Nevoid basal cell carcinoma syndrome

From Libre Pathology
Jump to: navigation, search
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.