MedlinePlus Medical Encyclopedia: Basal cell nevus syndrome

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Basal cell nevus syndrome

Contents of this page:
Illustrations Alternative names Definition Causes, incidence, and risk factors Symptoms Signs and tests	Treatment Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Basal cell nevus syndrome - close-up of palm

Basal cell nevus syndrome - plantar pits

Basal cell nevus syndrome - face and hand

Basal cell nevus syndrome

Basal cell nevus syndrome - face

Alternative names Return to top

Nevoid basal cell carcinoma syndrome; Gorlin's syndrome

Definition Return to top

Basal cell nevus syndrome is an inherited group of multiple defects involving the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a predisposition for skin cancers.

Causes, incidence, and risk factors Return to top

Basal cell nevus syndrome is a rare condition which is inherited as an autosomal dominant trait. This means that if a child inherits the defective gene from either parent, he or she will have the disorder.

Children with this disease have wide set eyes, a broad nasal saddle, and a heavy protruding brow. They may also have a protruding jaw (prognathism). The hallmark of this disorder is the appearance of skin cancer (basal cell carcinoma) at or about puberty.

Nervous system involvement may include hydrocephalus (an enlargement of the head caused by fluid accumulation on the brain), seizures, mental retardation, deafness, and brain tumors (medulloblastoma). Defects in the iris or lens of the eye, and blindness are manifestations that can affect the eyes.

Defects in the bones include cysts in the upper jaw (maxilla) and lower jaw (mandible) that may cause abnormal tooth development or spontaneous jaw fractures. Other bony defects may be associated with this condition, such as scoliosis (curvature of the back), kyphosis (severe curvature of the back), and rib abnormalities.

Symptoms Return to top

Family history of basal cell nevus syndrome
Past diagnosis of multiple basal cell skin cancers
Characteristic facial appearance including wide set eyes, broad nasal bridge, heavy ridge over eyes, and protruding jaw
Defect in iris of the eye
Opaque lens of eye (cataracts)
Blindness
Abnormal teeth with pits in the enamel
Skeletal abnormalities

Signs and tests Return to top

There is often a family history of basal cell nevus syndrome.

X-rays may reveal bone cysts in the jaw, calcification of falx cerebri (mineral deposits in the brain), and multiple bone abnormalities.

Skin biopsy of tumors may be used to determine that they are basal cell carcinoma.

Genetic testing may demonstrate an abnormality in some patients with this disorder.

Treatment Return to top

This condition requires evaluation and treatment by several specialists, depending on the affected systems. For example, a cancer specialist (oncologist) may treat tumors, and an orthopedic surgeon may be needed to help treat bone abnormalities.

Expectations (prognosis) Return to top

Frequent follow-up with a variety of doctors is vital to achieving a good outcome.

Complications Return to top

Skin destruction from skin cancers
Blindness
Deafness
Brain tumor
Spontaneous fractures

Calling your health care provider Return to top

Call for an appointment with your health care provider if you or any family members have basal cell nevus syndrome, and you are planning to have a child.

Call your provider if you have a child who has symptoms suggestive of this condition.

Prevention Return to top

Genetic counseling will be of value to prospective parents. If one parent is affected, the probability is 50% that the infant will be affected also.

Sun avoidance and sunscreen use are a must to decrease the appearance of new basal cell carcinomas.

Update Date: 7/2/2004

Updated by: Jonathan Kantor, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician 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. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.