Nevoid basal cell carcinoma syndrome

Definition

Nevoid basal cell carcinoma syndrome is a group of defects passed down through families. The disorder involves the skin, nervous system, eyes, endocrine glands, urinary and reproductive systems, and bones.

It causes an unusual facial appearance and a higher risk for skin cancers and noncancerous tumors.

Causes

Nevoid basal cell carcinoma 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 develop the syndrome if either parent passes the gene to you.

Symptoms

Main symptoms of this disorder are:

Other symptoms include:

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 this disorder and a past history of basal cell skin cancers.

Tests may reveal:

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.

People with this disorder may also be seen and treated by other specialists, depending on which part of the body is affected. For example, a cancer specialist (oncologist) may treat tumors in the body, and an orthopedic surgeon may help treat bone problems.

Support Groups

These groups can provide more information on nevoid basal cell carcinoma syndrome:

Outlook (Prognosis)

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

Possible Complications

People with this condition may develop:

When to Contact a Medical Professional

Call for an appointment with your health care provider if:

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.


Review Date: 5/24/2018
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, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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