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    Nevoid basal cell carcinoma syndrome

    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 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.

    Causes

    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.

    Symptoms

    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:

    The condition also leads to bone defects, including:

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

    Exams and Tests

    There may be a family history of this disorder 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
    • Abnormalities 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:

    Treatment

    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.

    Outlook (Prognosis)

    Frequent follow-up with a variety of specialists 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 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.

    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.

    Open References

    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.

    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.

      • Basal cell nevus syndrome - close-up of palm

        Basal cell nevus syndrome - close-up of palm - illustration

        Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas, and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This picture is a close-up of the pits found in the palm of an individual with basal cell nevus syndrome.

        Basal cell nevus syndrome - close-up of palm

        illustration

      • Basal cell nevus syndrome - plantar pits

        Basal cell nevus syndrome - plantar pits - illustration

        Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas (skin cancers). This picture is a close-up of the pits found on the sole of the foot of an individual with basal cell nevus syndrome.

        Basal cell nevus syndrome - plantar pits

        illustration

      • Basal cell nevus syndrome - face and hand

        Basal cell nevus syndrome - face and hand - illustration

        Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas (a type of skin cancer), and skeletal abnormalities. This individual has multiple flesh-colored, dome-shaped bumps on the face which are basal cell cancers, and palmar pits.

        Basal cell nevus syndrome - face and hand

        illustration

      • Basal cell nevus syndrome

        Basal cell nevus syndrome - illustration

        Basal cell nevus syndrome is an inherited disorder which inclines the patient to development of multiple basal cell carcinomas, most prevalent for unknown reasons around the eyes and nose. Here they appear as slightly larger than pinpoint papules on the eye lid.

        Basal cell nevus syndrome

        illustration

      • Basal cell nevus syndrome - face

        Basal cell nevus syndrome - face - illustration

        The basal cell nevus syndrome has associated with it odontogenic cysts of the jaws, pitted depressions of the hands and feet (tiny basal cells), and osseous anomalies of the skeleton. Care is given by removal of the carcinomata on a regular basis and genetic counseling, since this is an autosomal dominantly inherited disorder.

        Basal cell nevus syndrome - face

        illustration

        • Basal cell nevus syndrome - close-up of palm

          Basal cell nevus syndrome - close-up of palm - illustration

          Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas, and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas. This picture is a close-up of the pits found in the palm of an individual with basal cell nevus syndrome.

          Basal cell nevus syndrome - close-up of palm

          illustration

        • Basal cell nevus syndrome - plantar pits

          Basal cell nevus syndrome - plantar pits - illustration

          Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), and skeletal abnormalities. Skin manifestations include pits in the palms and soles, and numerous basal cell carcinomas (skin cancers). This picture is a close-up of the pits found on the sole of the foot of an individual with basal cell nevus syndrome.

          Basal cell nevus syndrome - plantar pits

          illustration

        • Basal cell nevus syndrome - face and hand

          Basal cell nevus syndrome - face and hand - illustration

          Basal cell nevus syndrome is an inherited disorder characterized by wide-set eyes, saddle nose, frontal bossing (prominent forehead), prognathism (prominent chin), numerous basal cell carcinomas (a type of skin cancer), and skeletal abnormalities. This individual has multiple flesh-colored, dome-shaped bumps on the face which are basal cell cancers, and palmar pits.

          Basal cell nevus syndrome - face and hand

          illustration

        • Basal cell nevus syndrome

          Basal cell nevus syndrome - illustration

          Basal cell nevus syndrome is an inherited disorder which inclines the patient to development of multiple basal cell carcinomas, most prevalent for unknown reasons around the eyes and nose. Here they appear as slightly larger than pinpoint papules on the eye lid.

          Basal cell nevus syndrome

          illustration

        • Basal cell nevus syndrome - face

          Basal cell nevus syndrome - face - illustration

          The basal cell nevus syndrome has associated with it odontogenic cysts of the jaws, pitted depressions of the hands and feet (tiny basal cells), and osseous anomalies of the skeleton. Care is given by removal of the carcinomata on a regular basis and genetic counseling, since this is an autosomal dominantly inherited disorder.

          Basal cell nevus syndrome - face

          illustration

        Review Date: 5/28/2024

        Reviewed 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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