Nevoid basal cell carcinoma syndrome

Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene 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.^[1]  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.^[1]

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.^[2]

Signs and symptoms in affected people may include:^[2]

• 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)
• medulloblastoma (childhood brain tumor) in about 5% of affected children
• multiple jaw keratocysts (usually in the second decade of life)
• basal cell carcinoma
• sebaceous and dermoid cysts
• cardiac and ovarian fibromas