Nevoid basal cell carcinoma syndrome is a group of conditions 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.

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

Nevoid basal cell carcinoma 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.

Variations 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% chance of having it. It is also possible to develop this gene variation with no family history.

Main symptoms of this disorder are:

• A type of skin cancer called basal cell carcinoma that develops around the time of puberty
• A noncancerous tumor of the jaw, called keratocystic odontogenic tumor that also develops during puberty

Other symptoms include:

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

The condition may affect the nervous system and lead to:

• Eye problems
• Deafness
• Intellectual disability
• Seizures
• Tumors of the brain

The condition also leads to bone defects, including:

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

It is important to get examined by a skin specialist (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.

Frequent follow-up with a variety of specialists is important for having a good outcome.

People with this condition may develop:

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

Contact your health care provider if:

• You or any family members have nevoid basal cell carcinoma syndrome, especially if you are planning to have a child.
• You have a child who has symptoms of this disorder.

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.

Published Date: May 28, 2024
Published By: Ramin Fathi, MD, FAAD, Director, Phoenix Surgical Dermatology Group, Phoenix, 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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Martin KL. Tumors of the skin. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 711.

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.