Health Encyclopedia

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, incidence, and risk factors

Basal cell nevus syndrome is a rare genetic condition. The gene linked to the syndrome 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 about puberty.

Symptoms include:

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

The condition may affect the nervous system and lead to:

Blindness
Brain tumors
Deafness
Defects in the colored part (iris) or lens of the eye
Head swelling due to fluid on the brain (hydrocephalus)
Mental retardation
Seizures

The condition also leads to bone defects, including:

Curvature of the back (scoliosis)
Severe curvature of the back (kyphosis)
Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures
Rib abnormalities

Signs and tests

The person may have a family history of basal cell nevus syndrome and several basal cell skin cancers in the past.

Tests that may be done include:

Genetic testing (in some patients)
Skin biopsy of tumors
X-rays to check for bone cysts in the jaw, mineral deposits in the brain, and multiple bone abnormalities

Treatment

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

Expectations (prognosis)

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

Complications

Blindness
Brain tumor
Deafness
Ovarian tumors
Skin damage due to skin cancers
Spontaneous fractures

Calling your health care provider

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 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

Behrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders; 2004.

Review Date:2/5/2008
Reviewed By:Kevin Berman, MD, PhD, Associate, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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