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, urinary and reproductive systems, and bones.

It causes an unusual facial appearance and a higher risk for skin cancers and noncancerous tumors.

Alternative Names

NBCC syndrome; Gorlin-Goltz syndrome; Basal cell nevus syndrome; BCNS; Basal cell cancer - nevoid basal cell carcinoma 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

Main symptoms of this disorder are:

• A type of skin cancer called basal cell carcinoma that develops around the time of puberty
• A noncancerous tumor of the jaw, called kerotocystic odontogenic tumor that also develops during puberty

Other symptoms include:

• Broad nose
• Cleft palate
• Heavy, protruding brow
• Jaw that sticks out (in some cases)
• Wide-set eyes
• Pitting on palms and soles

The condition may affect the nervous system and lead to:

• Blindness
• Deafness
• Intellectual disability
• Seizures
• Tumors of the brain

The condition also leads to bone defects, including:

• Curvature of the back (scoliosis)
• Severe curvature of the back (kyphosis)
• Abnormal ribs

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)
• MRI of the brain
• 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.

People 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.

Support Groups

These groups can provide more information on nevoid basal cell carcinoma syndrome:

• National Organization for Rare Disorders -- rarediseases.org/rare-diseases/nevoid-basal-cell-carcinoma-syndrome
• NLM Genetics Home Reference -- ghr.nlm.nih.gov/condition/gorlin-syndrome

Outlook (Prognosis)

Frequent follow-up with a variety of specialist doctors is important for having a good outcome.

Possible Complications

People with this condition may develop:

• Blindness
• Brain tumor
• Deafness
• Fractures
• Ovarian tumors
• Cardiac fibromas
• 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. GeneReviews. 2015:10. PMID: 20301330. www.ncbi.nlm.nih.gov/pubmed/20301330. Published June 20, 2002. Updated March 29, 2018. Accessed June 6, 2018.

Skelsey MK, Peck GL. Nevoid basal cell carcinoma syndrome. In: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson IH, eds. Treatment of Skin Disease: Comprehensive Therapeutic Strategies. 5th ed. Philadelphia, PA: Elsevier; 2018:chap 170.