eMedicine Specialties > Dermatology > Malignant Neoplasms
Nevoid Basal Cell Carcinoma Syndrome: Treatment & Medication
Updated: Mar 12, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Treatment
Surgical Care
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.
- 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, Mohs micrographic surgery, and photodynamic therapy.
- ED&C is an excellent treatment for BCCs in this syndrome, especially small or primary lesions. In addition to being relatively simple, this modality avoids the covering-up of possible residual tumor with skin grafts or flaps. Patients who have had multiple ED&Cs rather than multiple complex closures are more likely to keep reconstructive options intact should they require more significant excisions in the future. Superficially destructive modalities such as carbon dioxide laser have been reported but few data exist to support routine use.
- Surgical excision may often be performed in an outpatient setting. The main disadvantage in patients with NBCCS is the creation of full-thickness skin defects that may need complex repairs, skin grafts, or skin flaps for closure. Because of the expectation that patients with NBCCS will develop many tumors, assessing whether a new lesion is primary or recurrent in the face of previous excisions can be difficult.
- Mohs micrographic surgery should be saved for larger, recurrent, or more aggressive tumors or those in critical locations where simpler modalities, especially ED&C, are less likely to lead to a cure.
- Photodynamic therapy for BCC involves the delivery of a phototoxic drug (topically or systemically) followed by light treatment. Topical aminolevulinic acid (ALA-PDT) and methyl-aminolevulinic acid (MAL-PDT) have been used with various light sources to treat BCC.15,16 The main potential advantage is the ability to treat multiple small lesions in one sitting. It is not as effective for recurrent or larger tumors. Photodynamic therapy is currently approved by the US Food and Drug Administration for treatment of actinic keratosis in the United States.
- Surgery for ovarian tumors or cardiac tumors may be required for either treatment or prevention of symptoms.
Consultations
- A dermatologist should maintain ongoing surveillance and treatment of skin cancer. Frequent visits (every 2-3 mo) are recommended to identify and to treat lesions when they are as small as possible.
- A genetic counselor is a critical component of the ongoing care of the patient, particularly with issues of having children. As new research is performed, the availability, sensitivity, and specificity of molecular testing may change.
- Other specialists may be needed to help manage associated abnormalities if they develop; specialists may include a neurologist and/or a neurosurgeon, a pediatrician, a cardiologist and/or a cardiac surgeon, a gynecologist, a dentist and/or an oral surgeon, a plastic surgeon, and an ophthalmologist.
Medication
Topical agents such as imiquimod17 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), they 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, they should be considered best for use in smaller or more superficial lesions, away from critical anatomic sites.
Investigations and clinical trials are being undertaken into the use of novel agents such as tazarotene (Tazorac) and a newly developed HH inhibitor.12 Although potentially promising, approval by the US Food and Drug Association and availability await further testing and results.
Antineoplastic Agent, Antimetabolite
5-Fluorouracil, topical (Carac, Efudex)
Cycle-specific agent that has activity as single agent and, for many years, has been combined with biochemical modulator leucovorin. Shown to be effective in adjuvant setting. Classic antimetabolite anticancer drug with chemical structure similar to endogenous intermediates or building blocks of DNA or RNA synthesis.
Inhibits tumor cell growth through at least 3 different mechanisms that ultimately disrupt DNA synthesis or cellular viability. These effects depend on intracellular conversion of 5-FU into 5-FdUMP, 5-FUTP, and 5-FdUTP. 5-FdUMP inhibits thymidylate synthase (key enzyme in DNA synthesis). 5-FUTP is incorporated into RNA and interferes with RNA processing. 5-FdUTP is incorporated into DNA, leading to cytotoxic DNA strandbreaks.
Used topically for management of superficial BCC.
Adult
Apply bid, in sufficient amount to cover lesions, for a minimum of 3 wk; only 5% strength is recommended; therapy might be required for up to 10-12 wk
Pediatric
Administer as in adults
None reported
Documented hypersensitivity; potentially serious infections
Pregnancy
X - Contraindicated; benefit does not outweigh risk
Precautions
Inflammatory reactions may occur with use of occlusive dressings; porous gauze dressing may be applied for cosmetic reasons without increase in reaction; patients should expect inflammatory reaction with crusting
Topical Skin Product
Imiquimod (Aldara)
Immune response modifier thought to produce a nonspecific anti-AK response (interferon, natural killer cells) and a specific immune response (cytotoxic T cells). Indicated to treat clinically typical, nonhyperkeratotic, nonhypertrophic AKs on the face or scalp.
Precise mechanism for superficial BCC is unknown. May increase tumor infiltration of lymphocytes, dendritic cells, and macrophages. Indicated for biopsy-confirmed, primary superficial BCC in adults with normal immune systems. Additionally, tumors must not be >2 cm in diameter on certain areas of the body. Only indicated when surgical methods are not appropriate.
Adult
Apply cream to treatment area (including 1 cm of skin surrounding tumor) 5 nights/wk at bedtime for 6 wk; leave on for 8 h, then wash area
Pediatric
Not established
None reported
Documented hypersensitivity
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Medical follow-up is essential to ensure cancer has responded adequately to treatment; may cause redness, swelling, and sore development at application site; may cause itching or burning
Avoid exposure to sunlight or artificial tanning devices; regular use of sunscreen is encouraged; avoid contact with lips, eyes, or nostrils; common adverse effects include erythema, edema, vesicles, erosion or ulceration, weeping, exudate, flaking, scaling, dryness, scabbing, or crusting
More on Nevoid Basal Cell Carcinoma Syndrome |
| Overview: Nevoid Basal Cell Carcinoma Syndrome |
| Differential Diagnoses & Workup: Nevoid Basal Cell Carcinoma Syndrome |
 Treatment & Medication: Nevoid Basal Cell Carcinoma Syndrome |
| Follow-up: Nevoid Basal Cell Carcinoma Syndrome |
| Multimedia: Nevoid Basal Cell Carcinoma Syndrome |
| References |
| « Previous Page | Next Page » |
References
Veenstra-Knol HE, Scheewe JH, van der Vlist GJ, van Doorn ME, Ausems MG. Early recognition of basal cell naevus syndrome. Eur J Pediatr. Mar 2005;164(3):126-30. [Medline].
Evans DG, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer. Nov 1991;64(5):959-61. [Medline].
Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. Jun 1993;30(6):460-4. [Medline].
Gorlin RJ. Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore). Mar 1987;66(2):98-113. [Medline].
Shanley S, Ratcliffe J, Hockey A, et al. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet. Apr 15 1994;50(3):282-90. [Medline].
Kimonis VE, Goldstein AM, Pastakia B, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet. Mar 31 1997;69(3):299-308. [Medline].
Gorlin RJ. 2004 ASHG Award for Excellence in Human Genetics Education. And the band played on... Am J Hum Genet. Feb 2005;76(2):216-8. [Medline].
Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. Nov-Dec 2004;6(6):530-9. [Medline].
Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. Jun 14 1996;85(6):841-51. [Medline].
High A, Zedan W. Basal cell nevus syndrome. Curr Opin Oncol. Mar 2005;17(2):160-6. [Medline].
Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. Jun 14 1996;272(5268):1668-71. [Medline].
Epstein EH. Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer. Oct 2008;8(10):743-54. [Medline].
Goldstein AM, Bale SJ, Peck GL, DiGiovanna JJ. Sun exposure and basal cell carcinomas in the nevoid basal cell carcinoma syndrome. J Am Acad Dermatol. Jul 1993;29(1):34-41. [Medline].
Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med. Nov-Dec 2004;6(6):495-502. [Medline].
Itkin A, Gilchrest BA. delta-Aminolevulinic acid and blue light photodynamic therapy for treatment of multiple basal cell carcinomas in two patients with nevoid basal cell carcinoma syndrome. Dermatol Surg. Jul 2004;30(7):1054-61. [Medline].
Oseroff AR, Shieh S, Frawley NP, et al. Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy. Arch Dermatol. Jan 2005;141(1):60-7. [Medline].
Ferreres JR, Macaya A, Jucgla A, Muniesa C, Prats C, Peyri J. Hundreds of basal cell carcinomas in a Gorlin-Goltz syndrome patient cured with imiquimod 5% cream. J Eur Acad Dermatol Venereol. Aug 2006;20(7):877-8. [Medline].
Further Reading
Keywords
nevoid basal cell carcinoma syndrome, NBCCS, Gorlin syndrome, Gorlin's syndrome, basal cell nevus syndrome, basal cell carcinoma, BCC, BCNS, PTCH gene
