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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 higher risk of skin cancers.
Nevoid basal cell carcinoma syndrome; Gorlin syndrome
Causes, incidence, and risk factors
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. That means you will get the syndrome if either parent passes the gene down to you.
The hallmark of this disorder is the appearance of a type of skin cancer known as basal cell carcinoma at or around puberty.
The condition may affect the nervous system and lead to:
The condition also leads to bone defects, including:
Signs 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:
Tests that may be done include:
It is important to get examined by a 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 several other specialists, depending on what 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.
Frequent follow-up with a variety of doctors is important to having a good outcome.
Calling your health care provider
Call for an appointment with your health care provider if:
Couples with a family history of this syndrome might consider genetic counseling before becoming pregnant.
Avoiding the sun and using sunscreen are necessary to help prevent new basal cell skin cancers.
Avoid ionizing radiation such as x-rays. People with this condition are very sensitive to radiation, and exposure can lead to skin cancers.
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.
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, A.D.A.M. Health Solutions, Ebix, Inc.
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