About Basal Cell Carcinoma Nevus Syndrome

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-1 (Patched) tumor-suppression gene, which affects the Hedgehog Signaling Pathway in the body's cells. BCCNS is present at birth, but it is often diagnosed later in life. It is a dominant genetic disorder, meaning that there is a 50-percent chance for children to inherit BCCNS from their parents. Some cases are de novo occurrences, the result of a new mutation instead of an inherited one.

In addition to our convenient educational brochure, the Network has a wealth of educational media about BCCNS, its effects, and treatments. Some general information about the more common symptoms is shared below (keep in mind that no one symptom hits every affected individual, and no one will develop all of the symptoms).

• Basal Cell Carcinoma: The most common kind of skin cancer, and the most common symptom of BCCNS, basal cell carcinomas (BCCs) often form because of overexposure to sunlight. These cancerous lesions often show up as shiny, pearly nodules—but red patches, scars, and thickened skin are also common. People with BCCNS can develop BCCs almost anywhere on the skin, although sun-exposed areas like the head and neck are the most common. While they usually remain benign, BCCs are aggressive: they invade the surrounding tissue, which can cause serious disfigurement.
  Because people with BCCNS can end up developing hundreds of BCCs over the course of their lives, sun safety is a must. Protective clothing should be worn for every outing, and sunscreen should be applied liberally and reapplied frequently. Radiation therapy is a bad idea for people with BCCNS, because it will generally cause masses of BCCs to form a few months later.
• Jaw Cysts: Keratocystic odontogenic tumors (KCOTs, also called odontogenic keratocysts/OKCs) appear in the tooth-forming tissue of the jaws—usually on the lower jaw, but sometimes on the upper jaw, too. They are aggressive, often growing to a size where they can destroy a big part of the jaw and teeth. People with BCCNS may develop multiple KCOTs during their teenage and young adult years.
• Other Tumors: Because the PTCH-1 tumor-suppression gene is disabled, people with BCCNS are more likely to develop tumors of all kinds. These can happen anywhere in the body, including the heart, stomach, ovaries, brain, intestines, muscles, and bone.
  Children with the disorder should be monitored regularly for medulloblastoma, a rare malignant brain tumor that forms in early childhood. It forms even earlier for BCCNS children (2 or 3 years old instead of 6 or 7).
• Palmar/Plantar Pits: Small pits that form in the skin of the hands and feet. These pits tend to be small (only a couple of millimeters across), but they become more visible after soaking the hands or feet in warm water for about 10 minutes. Manual labor can also expose the pits as dirt and grease get trapped in them.
• Facial Differences: BCCNS tends to affect the formation of the skull in predictable ways. People affected by BCCNS sometimes have larger heads than usual (macrocephaly), a prominent forehead or jawline, wide-set eyes, “glaring” eyebrows, and other eye troubles (strabismus, nystagmus, coloboma, etc.) Some children with BCCNS are born with a cleft lip or palate.
• Skeletal Troubles: BCCNS can also affect the proper growth of a person's skeleton. Common difficulties include kyphosis and scoliosis (improper curve of the spine), pectus (a sunken or protruding chest), syndactyly or polydactyly (fused or extra digits), Sprengel deformity (mis-aligned shoulder blades), and short metacarpals (bones in the hands).

Our sister site (link opens a new window) has more information on these symptoms, as well as other symptoms that BCCNS can cause. Remember to talk to your doctor and other health care providers about any concerns or issues you might have—a well-informed patient is a healthy one!