Basal Cell Nevus Syndrome Symptoms & Treatment, NE - CHI Health, Omaha

Health Encyclopedia - Disease

Search Health Information   

 

Basal cell nevus syndrome

Definition

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:

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.


Review Date: 8/9/2013
Reviewed By: 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com