Nevoid basal cell carcinoma syndrome

How is nevoid basal cell carcinoma syndrome inherited?

Nevoid basal cell carcinoma syndrome (NBCCS) is caused by a change (mutation) in the PTCH1 gene and is inherited in an autosomal dominant way. This means that if a close relative (such as a parent or sibling) has NBCCS, there is a 50% chance that an individual may also have inherited this condition, and a 50% chance that they did not. Because the symptoms of NBCCS can vary widely and are sometimes mild or subtle, it is not always possible to tell which relatives have inherited the condition based on physical features alone. As such, individuals who have a close relative with NBCCS may consider genetic testing to determine whether they inherited NBCCS.

Last updated on 05-01-20

Can basal cell carcinoma syndrome cause large body size and abnormal face shape in children?

Children with basal cell carcinoma can develop facial cysts which might distort face shape. It is possible that large body size is also associated with this syndrome. The following articles describe cases of accelerated growth in children who developed basal cell carcinoma syndrome as a result of a small deletion involving the PTCH1 gene.

Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T. Clinical features of microdeletion 9q22.3 (pat). Clin Genet. 2009 Apr;75(4):384-93.

Chen CP, Lin SP, Wang TH, Chen YJ, Chen M, Wang W. Perinatal findings and molecular cytogenetic analyses of de novo interstitial deletion of 9q (9q22.3-->q31.3) associated with Gorlin syndrome. Prenat Diagn. 2006 Aug;26(8):725-9.

We strongly recommend that you discuss these questions with a genetics professional. Genetics professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. They can counsel you regarding your son's symptoms. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

  • GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
    http://www.geneclinics.org/

  • ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
    http://www.nsgc.org/resourcelink.asp

  • Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
    http://www.kumc.edu/gec/prof/genecntr.html

Last updated on 05-01-20

What is nevoid basal cell carcinoma syndrome?

Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the _PTCH1 _gene.

Last updated on 05-01-20

What is the long-term outlook for people with nevoid basal cell carcinoma syndrome?

The life expectancy for people with nevoid basal cell carcinoma syndrome (NBCCS) is not significantly different from people without NBCCS. Although young children often have some delay in motor milestones, most of them catch up by about 5 years of age. The major problem is with the cosmetic effect of treatment of multiple skin tumors and treatment of jaw keratocysts. A poor cosmetic outcome can lead to social difficulties, including difficulty maintaining employment.

Last updated on 05-01-20

Can anything be done to improve the prognosis for people with nevoid basal cell carcinoma syndrome?

There are screening recommendations for people who are known or suspected to have nevoid basal cell carcinoma syndrome (NBCCS). Screening can help with early diagnosis and treatment of many of the features of NBCCS. The recommendations include:

  • A neurologic evaluation every six months from birth to age three, then every year to age seven to look for signs of medulloblastoma
  • Measurement of head size regularly throughout childhood
  • Yearly dental x-rays, beginning at age eight, to look for jaw cysts
  • At least yearly skin exams (beginning in the teenage years) to watch for basal cell skin cancer. Some physicians recommend a skin examination every three to four months. The frequency of exams will vary based on how many basal cell cancers or other skin problems a person has experienced. Early treatment of small basal cell skin cancer reduces the amount of surgery and scarring.

Screening recommendations may change over time as new technologies are developed and more is learned about NBCCS. Due to the high risk for multiple skin cancers, people with NBCCS should avoid sun exposure and protect their skin when outside. People with NBCCS should not receive radiation therapy because it increases the risk of basal cell skin cancers. No other tumors occur at a frequency that warrants more surveillance than is offered to people without NBCCS.

Last updated on 05-01-20

How might nevoid basal cell carcinoma syndrome be treated?

The features of nevoid basal cell carcinoma syndrome (NBCCS) should be evaluated and treated by specialists who are experienced with the condition (such as oral surgeons, dermatologists, plastic surgeons, and medical geneticists).

If a medulloblastoma is detected early enough, it may be treated by surgery and chemotherapy. Jaw keratocysts usually need to be surgically removed. Early treatment of basal cell carcinomas is necessary to prevent long-term cosmetic problems, particularly on the face. Surgical removal is often supplemented by other treatments such as cryotherapy, laser treatment, and/or photodynamic therapy. Radiation therapy is not recommended because it can provoke the development of more tumors. Some people may need long term treatment with oral retinoids such as isotretinoin or acitretin.

Cardiac fibromas may not cause symptoms, but they should be monitored by a cardiologist. If ovarian fibromas need surgical treatment, it is typically recommended that ovarian tissue is preserved even though it involves a risk of recurrence.

Last updated on 05-01-20

Where To Start

American Society of Clinical Oncology

Cancer.net, a resource from the American Society of Clinical Oncology, provides information about this condition.

Last updated on 04-27-20

Name: American Cancer Society 250 Williams Street NW
Atlanta, GA, 30329, United States
Toll Free: 1-800-227-2345 Url: https://www.cancer.org
Name: American Brain Tumor Association 8550 W. Bryn Mawr Ave, Ste 550
Chicago, IL, 60631, United States
Phone: +1-773-577-8750 Toll Free: 1-800-886-2282 Fax : +1-773-577-8738 Email: info@abta.org Url: https://www.abta.org/
Name: Children's Brain Tumor Foundation 274 Madison Avenue, Suite 1004
New York, NY, 10016 , United States
Toll Free: 1-866-228-4673 Email: info@cbtf.org Url: http://www.cbtf.org
Name: The Skin Cancer Foundation 149 Madison Avenue Suite 901
New York, NY, 10016 , United States
Phone: 212-725-5176 Url: http://www.skincancer.org/
Name: Gorlin Syndrome Alliance PO Box 1322
Kulpsville, PA, 19443, United States
Phone: +1-267-689-6443 Email: info@gorlinsyndrome.org Url: https://gorlinsyndrome.org/
Evans DG, Farndon PA. Nevoid Basal Cell Carcinoma Syndrome GeneReviews. 2013; Reference Link

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