Table 5.

Nevoid Basal Cell Carcinoma Syndrome: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Macrocephaly Rarely, treatment for hydrocephalus is indicated.
Eye manifestations Treatment per ophthalmologist
Orofacial clefts Treatment per craniofacial specialists
Skeletal anomalies: rib/vertebral anomalies, polydactyly Treatment per orthopedist as needed
BCCs Education re prevention of BCCs:
  • Avoid direct sun exposure.
  • Cover up exposed skin by wearing long sleeves, high collars, & hats.
  • Complete sunblock should be used.
Treatment options incl surgical excision, cryotherapy, laser treatment for early lesions, photodynamic therapy, & sonic hedgehog inhibitors (e.g., vismodegib). 1
  • Surgical treatment using Mohs microsurgery 2 appears particularly effective.
  • Photodynamic therapy is particularly suitable for thin lesions of <2 mm on ultrasound. 3
  • Treatment of severe &/or advanced BCCs w/sonic hedgehog inhibitors (e.g., vismodegib) is particularly helpful w/lesions around the eyes, 4 although side effects are common & quite severe. Due to high cost of treatment, NICE in the UK has judged the treatment not cost effective.
Early treatment is essential to prevent long-term cosmetic problems, particularly on the face. The priorities are to ensure complete eradication of aggressive BCCs, & to preserve normal tissue to prevent disfigurement.
Jaw keratocysts Keratocysts usually require surgical excision.
Medulloblastoma Treatment per neurosurgeon/oncologist
Cardiac tumors Cardiac fibromas may be asymptomatic & can be monitored by a pediatric cardiologist.
Ovarian fibromas If ovarian fibromas require surgical treatment, preservation of ovarian tissue is recommended, although it involves a risk of recurrence. 5

BCC = basal cell carcinoma; NICE = National Institute for Health and Care Excellence; UK = United Kingdom

1.

Systemic treatment of BCCs with retinoids (e.g., etretinate) is possible but often not well tolerated.

2.
3.
4.
5.

From: Nevoid Basal Cell Carcinoma Syndrome

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