Basal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes,
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
The hallmark of this disorder is the appearance of a type of skin cancer known as
- Broad nose
- Heavy, protruding brow
- Jaw that sticks out (in some cases)
- Wide-set eyes
The condition may affect the nervous system and lead to:
Intellectual disability Seizures
The condition also leads to bone defects, including:
- Curvature of the back (
- Severe curvature of the back (
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:
- 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 (
- Rib abnormalities
Tests that may be done include:
Echocardiogramof the heart
Genetic testing (in some patients)
MRI of the brain
X-rays of the bones, teeth, and skull
Ultrasound to check for ovarian tumors
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.
- Brain tumor
- Ovarian tumors
- Skin damage and severe scarring due to skin cancers
Calling your health care provider
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.
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.