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Genetic and Rare Diseases Information Center (GARD)

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Nevoid basal cell carcinoma syndrome


Other Names for this Disease

  • Basal Cell Nevus Syndrome
  • Fifth Phacomatosis
  • Gorlin Syndrome
  • Gorlin-Goltz Syndrome
  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Can this syndrome be accompanied by other problems? Can a child's large body size and abnormal face shape have something to do with this? What are the effects in the long run?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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.[1]
Last updated: 7/16/2014

What are the signs and symptoms of nevoid basal cell carcinoma syndrome?

Many different features have been described in people with nevoid basal cell carcinoma syndrome (NBCCS). These features are highly variable, even within affected members of the same family.[2]

Signs and symptoms in affected people may include:[2]
  • large head size (macrocephaly), large forehead (bossing of the forehead), coarse facial features, and/or facial milia (bumps on the skin that look like clogged pores or whiteheads)
  • skeletal abnormalities of the ribs and/or spine (bifid ribs, wedge-shaped vertebrae)
  • medulloblastoma (childhood brain tumor) in about 5% of affected children
  • multiple jaw keratocysts (usually in the second decade of life)
  • basal cell carcinoma
  • sebaceous and dermoid cysts
  • cardiac and ovarian fibromas
Last updated: 7/16/2014

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: 7/23/2010

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.[2]
Last updated: 7/16/2014

References
Other Names for this Disease
  • Basal Cell Nevus Syndrome
  • Fifth Phacomatosis
  • Gorlin Syndrome
  • Gorlin-Goltz Syndrome
  • Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.