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Basal cell nevus syndrome

Definition

Basal cell nevus syndrome is an inherited group of multiple defects involving the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a predisposition for skin cancers.

Alternative Names

Causes

Basal cell nevus syndrome is a rare condition which is inherited as an autosomal dominant trait. This means that if a child inherits the defective gene from either parent, he or she will have the disorder.

Children with this disease have wide set eyes, a broad nasal saddle, and a heavy protruding brow. They may also have a protruding jaw. The hallmark of this disorder is the appearance of a type of skin cancer known as basal cell carcinoma at or about puberty.

Nervous system involvement may include hydrocephalus (an enlargement of the head caused by fluid accumulation on the brain), seizures, mental retardation, deafness, and brain tumors (such as medulloblastoma). Defects in the iris (colored part) or lens of the eye, and blindness are manifestations that can affect the eyes.

Defects in the bones include cysts in the upper jaw (maxilla) and lower jaw (mandible) that may cause abnormal tooth development or spontaneous jaw fractures. Other bony defects may be associated with this condition, such as scoliosis (curvature of the back), kyphosis

Symptoms

• Family history of basal cell nevus syndrome
• Past diagnosis of multiple basal cell skin cancers
• Characteristic facial appearance including wide-set eyes, broad nasal bridge, heavy ridge over eyes, and protruding jaw
• Defects in iris of the eye
• Opaque lens of eye (cataracts)
• Blindness
• Abnormal teeth with pits in the enamel
• Skeletal abnormalities

Exams and Tests

There is often a family history of basal cell nevus syndrome.

X-rays may reveal bone cysts in the jaw, mineral deposits in the brain, and multiple bone abnormalities.

Skin biopsy of tumors may be used to determine if they are basal cell carcinoma.

Genetic testing may demonstrate an abnormality in some patients with this disorder.

Treatment

This condition requires evaluation and treatment by several specialists, depending on the affected systems. For example, a cancer specialist (oncologist) may treat tumors, and an orthopedic surgeon may be needed to help treat bone abnormalities.

Outlook (Prognosis)

Frequent follow-up with a variety of doctors is vital to achieving a good outcome.

Possible Complications

• Skin destruction from skin cancers
• Blindness
• Deafness
• Brain tumor
• Spontaneous fractures

When to Contact a Medical Professional

Call for an appointment with your health care provider if you or any family members have basal cell nevus syndrome, and you are planning to have a child.

Call your provider if you have a child who has symptoms suggestive of this condition.

Prevention

Genetic counseling will be of value to prospective parents. If one parent is affected, the probability is 50% that the infant will be affected also.

Sun avoidance and sunscreen use are a must to decrease the appearance of new basal cell carcinomas.