Nevoid basal cell carcinoma syndrome
Definition
Nevoid basal cell carcinoma syndrome is a group of defects, passed down through families. The disorder involves the skin, nervous system, eyes, endocrine glands, and bones.
It causes an unusual facial appearance and a higher risk of skin cancers.
Alternative Names
NBCC syndrome; Gorlin syndrome
Causes
Nevoid basal cell carcinoma 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 develop the syndrome if either parent passes the gene to you.
Symptoms
The main symptom of this disorder is a type of skin cancer called basal cell carcinoma, that develops around the time of puberty.
Other symptoms include:
- 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:
- Blindness
- Deafness
- Intellectual disability
- Seizures
The condition also leads to bone defects, including:
- Curvature of the back (scoliosis)
- Severe curvature of the back (kyphosis)
Exams and Tests
There may be a family history of this disorder 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:
- Echocardiogram of the heart
- Genetic testing (in some patients)
- Skin biopsy of tumors
- X-rays of the bones, teeth, and skull
- Ultrasound to check for ovarian tumors
Treatment
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 disorder may also be seen and treated by other specialists, depending on which 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.
Outlook (Prognosis)
Frequent follow-up with a variety of specialist doctors is important to having a good outcome.
Possible Complications
Persons with this condition may develop:
- Blindness
- Brain tumor
- Deafness
- Fractures
- 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 nevoid basal cell carcinoma syndrome, especially if you are planning to have a child.
- You have a child who has symptoms of this disorder.
Prevention
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.
Images
References
Evans DG, Farndon PA. Nevoid basal cell carcinoma syndrome. 2002 Jun 20 [Updated 2013 Mar 7]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle, WA; 1993-2014. Available at http://www.ncbi.nlm.nih.gov/books/NBK1151. Accessed July 30, 2014.
Schadt C, Fine J. Genetic disorders predisposing the skin malignancy. In: Rigel DS, Robinson JK, Ross M, et al. eds. Cancer of the Skin. 2nd ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 33.