Basal Cell Carcinoma Nevus Syndrome (BCCNS, also identified as nevoid basal
cell carcinoma syndrome, Gorlin syndrome, and Gorlin-Goltz syndrome) results
from a mutation of the PTCH tumor-suppressing gene, affecting the Hedgehog
signaling pathway in the body's cells. It is a dominant genetic disorder,
meaning that someone with BCCNS has a 50-percent chance of passing the disorder
on to each child.
The criteria for diagnosis and brief definitions are listed here, along with
other symptoms associated with BCCNS. Diagnosis requires EITHER two of the major
criteria OR one major criterion and two minor criteria. Please be aware that no
one will develop every symptom listed here.
Information can also be found on
a service of the U.S. National Library of Medicine.