Health Encyclopedia - Disease
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.
Nevoid basal cell carcinoma syndrome; Gorlin syndrome
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.
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:
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.
Frequent follow-up with a variety of doctors is important to having a good outcome.
Persons with this condition may develop:
- Brain tumor
- 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.
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.
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.
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.