Nevoid Basal Cell Carcinoma Syndrome Treatment & Management

Treatment of patients with nevoid basal cell carcinoma syndrome (NBCCS) involves surveillance for and treatment of the associated findings. Because most of the findings involve tumors (benign and malignant), treatment is often surgical.

Go to Basal Cell Carcinoma for more complete information on this topic.

Topical agents such as imiquimod^[16] and 5-fluorouracil are available and have been approved for treatment of BCC in the United States. These medications have a lower cure rate than surgical therapy but may be a useful adjunct in patients with multiple lesions. Despite the lower cure rate (which may reach up to 80% for superficial BCCs with imiquimod), these agents may play a useful role in allowing patients to treat their own selected smaller lesions, especially superficial BCCs on the trunk and extremities. In general, such medications should be considered best for use in smaller or more superficial lesions, away from critical anatomic sites.

Topical photodynamic therapy, which is approved in the United States only for treatment of actinic keratoses, may be a useful treatment for multiple BCCs in patients with NBCCS. This therapy consists of an application of a commercially available topical agent (either aminolevulinic acid [ALA] or methyl-ALA), followed by treatment with an appropriate visible light (typically blue light or red light), which causes tumor destruction by a photo-induced reaction.^{[17, 18]}

Investigations and clinical trials are evaluating the use of these and other novel agents such as tazarotene (Tazorac) and newly developed HH inhibitors.^[2] Although potentially promising, especially the hedgehog inhibitors, approval by the US Food and Drug Association (FDA) and availability await further testing and results. Interested readers can visit ClinicalTrials.gov for more information on clinical studies.

Oral surgery involving cyst enucleation followed by mechanical curettage or use of peripheral ostectomy may be required for odontogenic keratocysts. The incidence of recurrence following treatment is high.

For BCCs, early detection and treatment are critical to prevent any individual lesion from becoming invasive. Avoidance of radiation is an important principle based on several reports of BCCs developing in radiated fields. Surgical methods include electrodesiccation and curettage (ED&C), simple excision, and Mohs micrographic surgery.

Because of the large number of tumors expected over a lifetime, surgical methods should be chosen with attention given to cure rate and scarring potential. Less invasive approaches should be considered for small tumors, and these include topical therapies as well as curettage rather than excision. Similarly, reconstruction after tumor removal should take into account the likelihood of further BCCs in the vicinity and should be kept simple whenever possible (eg, second intention healing or primary closure vs use of flaps).

Of note, the small acrochordonlike, flesh-colored papules commonly seen on the upper trunk and neck seen more commonly in children and teens are usually slowly growing and can often be treated conservatively (eg, with light electrosurgery) rather than with potentially more disfiguring excision.

Surgery for ovarian tumors or cardiac tumors may be required for either treatment or prevention of symptoms.

A dermatologist should maintain ongoing surveillance and treatment of skin cancer. Frequent visits (sometimes as often as every 2-3 mo) are recommended to identify and to treat lesions when they are as small as possible.

A genetic counselor is a very important component of the ongoing care of the patient, particularly regarding issues of having children, but also to help determine if other family members are at risk of having the syndrome. As new research is performed, the availability, sensitivity, and specificity of molecular testing may change.

Other specialists may be needed to (1) assess a newly diagnosed individual and (2) help manage associated abnormalities if they develop, including a neurologist, neurosurgeon, pediatrician, cardiologist, cardiac surgeon, gynecologist, dentist, oral surgeon, plastic surgeon, and ophthalmologist.

Ongoing surveillance and treatment for sequelae of nevoid basal cell carcinoma syndrome (NBCCS) is required. In addition, in family members of patients with NBCCS in whom the diagnosis is possible but not confirmed, ongoing follow-up to help detect diagnostic criteria may be important.

BCCs require frequent follow-up care, 3-4 times a year (or more), to achieve early diagnosis and treatment. Odontogenic keratocysts require dental follow-up visits, including periodic radiographic evaluation, especially in childhood and early adolescence.

Screening for cardiac fibromas with echocardiography should be considered in infants with the syndrome and then if symptoms suggest their presence. Ovarian fibromas can be visualized on a peripubertal ultrasound as a baseline and then can be considered if symptoms develop.

In young children at risk, medulloblastomas necessitate a neurologic examination every 6 months; annual MRIs should be considered in children younger than 7 years.