Overview of Basal Cell Nevus Syndrome

Basal cell nevus syndrome is an inherited condition that affects the skin, nervous system, eyes, bones, endocrine glands and the urinary and reproductive systems. It is also known as nevoid basal cell carcinoma syndrome and Gorlin syndrome.1,2

There are five major components associated with basal cell nevus syndrome:

  1. Multiple basal cell carcinomas, often beginning around puberty
  2. Jaw cysts (noncancerous tumors in the jaw)
  3. Congenital skeletal abnormalities (including scoliosis or curvature of the spine and abnormal ribs)
  4. Abnormal calcification of the falx cerebri (part of the dura mater in the brain)
  5. Pits on the palms of the hands and/or soles of the feet1,3

People with basal cell nevus syndrome also frequently develop other tumors, including melanoma, ovarian fibroma, non-Hodgkins lymphoma, medulloblastoma, breast carcinoma, myocardial fibroma, and meningioma. Other symptoms common to people with basal cell nevus syndrome are cleft lip and palate, wide-set eyes, and eye problems (including cataracts and glaucoma). When the condition affects the nervous system, it can cause blindness, deafness, seizures, or intellectual disability.1-3

Cause of basal cell nevus syndrome

Basal cell nevus syndrome is rare, occurring in an estimated 1 in 60,000 people. As an inherited condition, it can be passed to a child from either the mother or the father. Researchers have determined one of the genes (PTCH1) associated with basal cell nevus syndrome normally functions as a tumor suppressor, and mutations on this gene would allow cancers to develop more easily.1,2

Diagnosis of basal cell nevus syndrome

Early diagnosis and treatment of basal cell nevus syndrome are important to reduce the severity of long-term consequences of the disease, including cancers and the deformity that can develop from jaw cysts. Diagnosis is based on the presence of major and minor characteristics. If a person has at least two of the major characteristics or one major and two minor characteristics, a diagnosis of basal cell nevus syndrome can be made.

Major criteria associated with basal cell nevus syndrome include:

  • Basal cell carcinomas: multiple basal cell carcinomas (at any age), a basal cell carcinoma that occurs before age 20, or more than 10 basal cell nevi (moles)
  • Jaw cysts
  • Pits on the palms of the hands and/or soles of the feet
  • Calcification of the falx cerebri before age 20
  • Family history of basal cell nevus syndrome

The minor criteria associated with basal cell nevus syndrome include:

  • Skeletal defects, frequently seen in the ribs or vertebrae of the spine
  • Large head with heavy, protruding brow
  • Fibroma (benign tumor) in the heart or ovary
  • Medulloblastoma (a type of brain cancer that often occurs in young children)
  • Abdominal cysts with lymph fluid (called lymphomesenteric cysts)
  • Congential malformation, such as cleft lip and/or palate, extra fingers or toes (polydactyly), or eye defects (like cataracts, small eyes or a tumor in the iris)2,3

Diagnostic tests that may be used to determine if a person has BCNS include a skull x-ray (to look for the presence of calcified falx cerebri), panoramic films (x-rays that go around the head and can show jaw cysts), computed tomography (CT) scans, chest x-ray (to view the ribs), echocardiogram of the heart, genetic testing, magnetic resonance imaging (MRI), skin biopsy, or ultrasound (to check for ovarian tumors).1,3

Treatment for basal cell nevus syndrome

Several specialists, depending on which parts of the body are affected, may handle treatment for basal cell nevus syndrome. It is important for someone with basal cell nevus syndrome to get regular examinations by a dermatologist, to treat any skin cancers promptly. Other specialists may include an oncologist (cancer specialist), cardiologist (for heart problems), orthopedic surgeon (for any bone deformities), and a gynecologist (for ovarian tumors). People with basal cell nevus syndrome frequently require surgery to remove jaw cysts, which can cause facial deformity, swelling, and dental problems.2,3

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