Navigate Up

Cancer Center - A-Z Index

#
Q
Y

Print This Page

Basal cell nevus syndrome

Basal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes, endocrine glands, and bones.

The condition causes an unusual facial appearance and a high risk of skin cancers.

Alternative Names

Nevoid basal cell carcinoma syndrome; Gorlin syndrome

Causes

Basal cell nevus syndrome is a rare genetic condition. The gene linked to the syndrome is known as PTCH ("patched").

The gene is passed down through families as an autosomal dominant trait. This means you get the syndrome if either parent passes the gene to you.

Symptoms

The main symptom of this disorder is a type of skin cancer called basal cell carcinoma , which you get at or around puberty.

The disorder also causes specific physical features, including:

  • Broad nose
  • Cleft palate
  • Heavy, protruding brow
  • Jaw that sticks out (in some cases)
  • Wide-set eyes

The condition may affect the nervous system and lead to:

The condition also leads to bone defects, including:

Exams and Tests

There may be a family history of basal cell nevus syndrome 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
  • Defects 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:

  • Echocardiogram of the heart
  • Genetic testing (in some patients)
  • Skin biopsy of tumors
  • X-rays of the bones, teeth, and skull
  • Ultrasound to check for ovarian tumors

Treatment

It is important to get examined by a skin doctor (dermatologist) often, so that skin cancers may be treated while they are still small.

Persons with this condition may also be seen and treated by other specialist doctors, depending on what part of the body is affected. For example, a cancer specialist (oncologist) may treat tumors in the body. An orthopaedic surgeon may help treat bone problems.

Outlook (Prognosis)

Frequent follow-up with a variety of doctors is important to having a good outcome.

Possible Complications

Persons with this condition may develop:

  • Blindness
  • Brain tumor
  • Deafness
  • Fractures
  • Ovarian tumors
  • Skin damage and severe scarring due to skin cancers

When to Contact a Medical Professional

Call for an appointment with your health care provider if:

  • You or any family members have basal cell nevus syndrome, especially if you are planning to have a child.
  • You have a child who has symptoms of this condition.

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.

References

Morelli JG. Tumors of the skin. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 662.

Schadt C, Fine JD. Genetic disorders predisposing to skin malignancy. In: Rigel DS, Robinson JK, Ross M, et al., eds. Cancer of the Skin. 2nd ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 33.

Updated: 8/9/2013

Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.


©  UPMC | Affiliated with the University of Pittsburgh Schools of the Health Sciences
Supplemental content provided by A.D.A.M. Health Solutions. All rights reserved.

For help in finding a doctor or health service that suits your needs, call the UPMC Referral Service at 412-647-UPMC (8762) or 1-800-533-UPMC (8762). Select option 1.

UPMC is an equal opportunity employer. UPMC policy prohibits discrimination or harassment on the basis of race, color, religion, ancestry, national origin, age, sex, genetics, sexual orientation, marital status, familial status, disability, veteran status, or any other legally protected group status. Further, UPMC will continue to support and promote equal employment opportunity, human dignity, and racial, ethnic, and cultural diversity. This policy applies to admissions, employment, and access to and treatment in UPMC programs and activities. This commitment is made by UPMC in accordance with federal, state, and/or local laws and regulations.

Medical information made available on UPMC.com is not intended to be used as a substitute for professional medical advice, diagnosis, or treatment. You should not rely entirely on this information for your health care needs. Ask your own doctor or health care provider any specific medical questions that you have. Further, UPMC.com is not a tool to be used in the case of an emergency. If an emergency arises, you should seek appropriate emergency medical services.

For UPMC Mercy Patients: As a Catholic hospital, UPMC Mercy abides by the Ethical and Religious Directives for Catholic Health Care Services, as determined by the United States Conference of Catholic Bishops. As such, UPMC Mercy neither endorses nor provides medical practices and/or procedures that contradict the moral teachings of the Roman Catholic Church.

© UPMC
Pittsburgh, PA, USA UPMC.com