How is nevoid basal cell carcinoma syndrome inherited?
Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may also have inherited this condition, and a 50% chance that they did not. Because the symptoms of NBCCS can vary widely and are sometimes mild or subtle, it is not always possible to tell which relatives have inherited the condition based on physical features alone. As such, individuals who have a close relative with NBCCS may consider genetic testing to determine whether they inherited NBCCS.
Last updated: 11/2/2014
What are the signs and symptoms of nevoid basal cell carcinoma syndrome?
Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family.
Signs and symptoms in affected people may include:
large head size (macrocephaly), large forehead (bossing of the forehead), coarse facial features, and/or facial milia (bumps on the skin that look like clogged pores or whiteheads)
skeletal abnormalities of the ribs and/or spine (bifid ribs, wedge-shaped vertebrae)