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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
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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 is a type of genetic tumor syndrome. Signs and symptoms include an increased risk for certain types of noncancerous and cancerous tumors, skin pits in the palms of the hands and soles of the feet, large head size, and bone abnormalities involving the spine, ribs, or skull. Nevoid basal cell carcinoma syndrome is caused by a mutation in the gene PTCH1.  It is inherited in an autosomal dominant fashion.[1]
Last updated: 7/23/2010

Can basal cell carcinoma syndrome be accompanied by other health problems?

More than 100 different features have been described in people with nevoid basal cell carcinoma syndrome. These features are highly variable, even within affected members of the same family.[2]

Signs and symptoms include:[2]

Large head size (macrocephaly)
Large forehead (bossing of the forehead)
Coarse facial features
Facial milia (bumps on the skin with an appearance similar to clogged pores or whiteheads)
Sebaceous cysts
Dermoid cysts
Shoulders that slope downward
Skeletal anomalies (often affecting the ribs and spine)
Hardening (calcification) of the falx (a fold that separates the right and left half of the brain)
Jaw cysts (keratocysts)
Basal cell carcinomas

Less common features include:

Heart fibroma (fibromas are noncancerous soft tissue tumors)
Ovarian fibroma
Cleft lip/palate (5%)
Extra digits (polydactyly)
Pigment changes in the retina (back of the eye)
Strabismus
Cataract
Cyst in the eye orbit
Small eyes
Medulloblastoma or primitive neuroectodermal tumor (5%)
Skin tag
Last updated: 7/23/2010

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 are the long term effects of basal cell carcinoma syndrome?

The life expectancy of people with basal cell carcinoma syndrome is not thought to be very different from individuals without the syndrome.[2] While young children with nevoid basal cell carcinoma syndrome may show developmental delays, they tend to catch up by around age 5.[2] Learning and development in children with this syndrome tends to be normal. This syndrome can cause multiple skin tumors and cyst that may affect the person’s physical appearance and require repeated surgeries, which can be challenging for individuals and for their families.[2] Cancers like basal cell carcinoma and medulloblastoma can be effectively treated, resulting in a favorable prognosis (i.e., chance for recovery).[2]

You can find these and further details regarding the symptoms of nevoid basal cell carcinoma syndrome, its treatment, and long-term prognosis at the following link to GeneTests.org. Some of this information is technical and we recommend that you review it with a healthcare provider.
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bcns

Further resources on nevoid basal cell carcinoma syndrome is available on our Web site at the following link:
http://rarediseases.info.nih.gov/GARD/Condition/7166/Nevoid_basal_cell_carcinoma_syndrome.aspx/Showall#Resources

Last updated: 7/23/2010

References