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 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
Exams 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.
Outlook (Prognosis)
Frequent follow-up with a variety of doctors is vital to achieving a good outcome.
Possible Complications
- Blindness
- Brain tumor
- Deafness
- Ovarian tumors
- Skin damage due to skin cancers
- 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 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.
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.
