Basal cell nevus syndrome

Alternative names
Nevoid basal cell carcinoma syndrome; Gorlin’s syndrome

Definition
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

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

     
  • 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
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
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)


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

Complications

     
  • Skin destruction from skin cancers  
  • Blindness  
  • Deafness  
  • Brain tumor  
  • Spontaneous fractures

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, and you are planning to have a child.

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

Prevention

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.

Johns Hopkins patient information

Last revised: December 8, 2012
by Brenda A. Kuper, M.D.

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