Basal cell nevus syndrome

Definition

Basal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes, endocrine glands, and bones.

The condition causes an unusual facial appearance and a higher risk of skin cancers.

Alternative Names

Nevoid basal cell carcinoma syndrome; Gorlin syndrome

Causes

Basal cell nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH ("patched").

The gene is passed down through families as an autosomal dominant trait. That means you will get the syndrome if either parent passes the gene down to you.

Symptoms

The hallmark of this disorder is the appearance of a type of skin cancer known as basal cell carcinoma at or around puberty.

Symptoms include:

• Broad nose
• Cleft palate
• Heavy, protruding brow
• Jaw that sticks out (in some cases)
• Wide-set eyes

The condition may affect the nervous system and lead to:

• Blindness
• Deafness
• Mental retardation
• Seizures

The condition also leads to bone defects, including:

• Curvature of the back (scoliosis)
• Severe curvature of the back (kyphosis)

Exams and Tests

There may be a family history of basal cell nevus syndrome and a past history of basal cell skin cancers.

Tests may reveal:

• Brain tumors
• Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures
• Defects in the colored part (iris) or lens of the eye
• Head swelling due to fluid on the brain (hydrocephalus)
• Rib abnormalities

Tests that may be done include:

• Echocardiogram of the heart
• Genetic testing (in some patients)
• MRI of the brain
• Skin biopsy of tumors
• X-rays of the bones, teeth, and skull
• Ultrasound to check for ovarian tumors

Treatment

It is important to get examined by a dermatologist often, so that skin cancers may be treated while they are still small.

Persons with this condition may also be seen and treated by several other specialists, depending on what part of the body is affected. For example, a cancer specialist (oncologist) may treat tumors in the body, and an orthopedic surgeon may help treat bone problems.

Outlook (Prognosis)

Frequent follow-up with a variety of doctors is important to having a good outcome.

Possible Complications

• Blindness
• Brain tumor
• Deafness
• Fractures
• Ovarian tumors
• Skin damage and severe scarring due to skin cancers

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, especially if you are planning to have a child.
• You have a child who has symptoms of this condition.

Prevention

Couples with a family history of this syndrome might consider genetic counseling before becoming pregnant.

Avoiding the sun and using sunscreen are necessary to help prevent new basal cell skin cancers.

Avoid ionizing radiation such as x-rays. People with this condition are very sensitive to radiation, and exposure can lead to skin cancers.

References

Morelli JG. Tumors of the skin. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier;2011:chap 662.

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