Basal Cell Nevus Syndrome

What are the symptoms of basal cell nevus syndrome?
How is basal cell nevus syndrome diagnosed and treated?

Basal cell nevus syndrome is an inherited condition characterized by multiple defects of the eyes, skin, nervous system, endocrine glands, and bones. Children with the disease often have wide-set eyes, a broad bridge of the nose, a heavy ridge over the eyes, and a protruding jaw. The disorder is also characterized by multiple basal cell skin cancers that are frequently located around the eyes, upper lip, and cheek bones. These are the same types of skin cancers caused by overexposure to the sun.

Basal cell nevus syndrome is inherited as an autosomal dominant trait, meaning that if one parent has the disease, there is a 50 percent chance that the disease will pass to a child. At least one parent must be affected in order for the child to inherit the disease.

What are the symptoms of basal cell nevus syndrome?

In addition to the characteristic facial appearance and the predisposition for skin cancers, symptoms may include mental retardation, seizures, brain tumors, spontaneous bone fractures, and deafness. Pits are sometimes visible in the palms of the hand and soles of the feet. Abnormal tooth development can result from cysts in the upper and lower jaws. Other bone defects associated with the disease include scoliosis (curvature of the spine), kyphosis (severe rounding of the upper back), and rib abnormalities.

Other symptoms of the disease in the eyes may include defects of the iris (See Anatomy of the Eye.), irregular pupils, cataracts, and blindness.

How is basal cell nevus syndrome diagnosed and treated?

To properly diagnose basal cell nevus syndrome, physicians will biopsy tumors to determine if they are basal cell carcinomas. X-rays will also be performed to determine the type and extent of bone defects and whether there are mineral deposits in the brain or other tissues. An eye care professional will examine the patient's eye for signs of cataracts, pupil abnormalities, and defects of the iris.

Several different specialists are usually involved in treating the disorders -- ophthalmologists for the eye problems, oncologists for the tumors, orthopedists for the bone abnormalities, and so on. The outcome will vary according to the severity of the symptoms and associated complications.

Prospective parents with a family history of basal cell nevus syndrome should undergo genetic counseling because there is a 50 percent probability that an infant will be affected if one parent is affected.