Nevoid Basal Cell Carcinoma SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About 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.
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.
Office
Ervin Epstein is a Dermatologist in Oakland, California. Dr. Epstein is rated as an Elite provider by MediFind in the treatment of Nevoid Basal Cell Carcinoma Syndrome. His top areas of expertise are Nevoid Basal Cell Carcinoma Syndrome, Basal Cell Skin Cancer, Intertrigo, and Carney Complex.
Giovanni Ponti practices in Modena, Italy. Mr. Ponti is rated as an Elite expert by MediFind in the treatment of Nevoid Basal Cell Carcinoma Syndrome. His top areas of expertise are Nevoid Basal Cell Carcinoma Syndrome, Basal Cell Skin Cancer, Multiple Familial Trichoepithelioma, and Melanoma.
CUIMC/Herbert Irving Pavilion
David R. Bickers, M.D., the Carl Truman Nelson professor and chairman of the Department of Dermatology at Columbia University College of Physicians & Surgeons and director of dermatology at NewYork-Presbyterian Hospital's Columbia University Medical Center.Dr. Bickers received his bachelor's degree from Georgetown University in 1963 and his M.D. from the University of Virginia in 1967. He was an intern in medicine at University Hospitals, University of Iowa, Iowa City, and later completed his residency training in dermatology at New York University Medical Center. During his residency, he was a National Institute of Health training fellow in dermatology, and was a guest investigator and assistant physician at The Rockefeller University Hospital. He originally joined the faculty of Columbia P&S in 1973, before accepting an appointment as Professor and Chair of Dermatology at Case Western Reserve University School of Medicine in 1977. In 1994, he returned to Columbia P&S in his current position.Dr. Bickers is a leading researcher in environmental carcinogenesis and photobiology. The author of more than 250 scientific and clinical publications, he has written extensively on the molecular mechanisms of skin cancer and the role of sunlight in causing it as well as diseases induced by environmental sunlight exposure such as the porphyrias. In 1989, he chaired a National Institutes of Health Consensus Conference on Ultraviolet Radiation and the Skin. He is the author/or co-author of four books, including Clinical Pharmacology of Skin Disease (1984) and Photosensitivity Diseases: Principles of Diagnosis and Treatment, Second Edition (1989).Dr. Bickers previously served as secretary-treasurer and President of the Society for Investigative Dermatology, and associate editor of the Journal of Investigative Dermatology. He has also served on several of the Society's committees.Dr. Bickers, who is board certified in dermatology, is a member of 11 professional societies, including the American Society for Clinical Investigation, The Association of American Physicians and an Honorary member of the American Academy of Dermatology, the German Dermatological Society and the Austrian Dermatological Society. He is also a member of Alpha Omega Alpha. Dr. Bickers is rated as an Elite provider by MediFind in the treatment of Nevoid Basal Cell Carcinoma Syndrome. His top areas of expertise are Nevoid Basal Cell Carcinoma Syndrome, Basal Cell Skin Cancer, Xeroderma Pigmentosum, and Muir-Torre Syndrome.
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.
Summary: NOTE: This is a research study and is not meant to be a substitute for clinical genetic testing. Families may never receive results from the study or may receive results many years from the time they enroll. If you are interested in clinical testing please consider seeing a local genetic counselor or other genetics professional. If you have already had clinical genetic testing and meet eligibility...
Summary: The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, de...
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.
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.