Nevoid basal cell carcinoma syndrome

Definition

Nevoid basal cell carcinoma syndrome is a group of defects passed down through families. The disorder involves the skin, nervous system, eyes, endocrine glands, urinary and reproductive systems, and bones.

It causes an unusual facial appearance and a higher risk for skin cancers and noncancerous tumors.

Alternative Names

NBCC syndrome; Gorlin syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome (BCNS); Basal cell cancer - nevoid basal cell carcinoma syndrome

Causes

Nevoid basal cell carcinoma nevus syndrome is a rare genetic condition. The main gene linked to the syndrome is known as PTCH ("patched"). A second gene, called SUFU, has also been associated with this condition.

Abnormalities in these genes are most commonly passed down through families as an autosomal dominant trait. This means you develop the syndrome if either parent passes the gene to you. If either of your parents has this syndrome, you have a 50 percent chance of having it. It is also possible to develop this gene defect with no family history.

Symptoms

Main symptoms of this disorder are:

Other symptoms include:

The condition may affect the nervous system and lead to:

The condition also leads to bone defects, including:

Exams and Tests

There may be a family history of this disorder and a past history of basal cell skin cancers.

Tests may reveal:

Tests that may be done include:

Treatment

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

People with this disorder may also be seen and treated by other specialists, depending on which 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 specialist doctors is important for having a good outcome.

Possible Complications

People with this condition may develop:

When to Contact a Medical Professional

Contact your health care provider for an appointment if:

Prevention

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

Staying out of the sun and using sunscreen can help prevent new basal cell skin cancers.

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

References

Epstein EH. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). In: Lebwohl MG, Heymann WR, Coulson IH, Murrell DF, eds. Treatment of Skin Disease: Comprehensive Therapeutic Strategies. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 170.

Hirner JP, Martin KL. Tumors of the skin. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 690.

Walsh MF, Cadoo K, Salo-Mullen EE, Dubard-Gault M, Stadler ZK, Offit K. Genetic factors: hereditary cancer predisposition syndromes. In: Niederhuber JE, Armitage JO, Kastan MB, Doroshow JH, Tepper JE, eds. Abeloff's Clinical Oncology. 6th ed. Philadelphia, PA: Elsevier; 2020:chap 13.


Review Date: 5/31/2022
Reviewed By: Elika Hoss, MD, Assistant Professor of Dermatology, Mayo Clinic, Scottsdale, AZ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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