Review of patients with basal cell nevus syndrome

PURPOSE: To review patients with basal cell nevus syndrome (BCNS), documenting presentation, referrals, treatment patterns, and associated morbidity. METHODS: Cross-sectional review and retrospective data collection of 39 patients with BCNS. Patients from the BCNS support group were invited to be examined. Demographics, presenting features, associated pathologies, and treatment modalities were recorded. Demographic data, age at presentation, age at diagnosis, spectrum of ophthalmic and periocular disease, treatment modalities used, and periocular deformities developed were reviewed. RESULTS: Thirty-nine patients were included with age range of 5 to 72 years. Presenting clinical features included odontogenic keratocyst in 17 patients and basal cell carcinoma in 13 patients; less common presentations were with congenital malformations (n = 2), with ophthalmic associations (n = 3), and at genetic counseling (n = 4). Seventeen of the 39 patients confirmed a parental diagnosis of BCNS. Basal cell carcinoma developed in 18 of the 28 patients before the age of 30, confirming the reported early age of onset. Periocular basal cell carcinoma was reported in 24 of 39 patients (61%), with recurrent disease reported in 17 of these 24 (71%), despite a variety of treatment modalities used. Associated ophthalmic features were multiple eyelid cysts (15 patients), strabismus (9 patients), myopia (5 patients), hyperopia (7 patients), cataracts (5 patients), myelinated nerve fibers (3 patients), amblyopia (3 patients), and nystagmus and iris transillumination defects (2 patients each). All patients were involved in multidisciplinary medical care. CONCLUSIONS: Patients with BCNS frequently have ophthalmic manifestations, particularly periocular basal cell carcinoma. Multidisciplinary care is essential in the care of the patient with BCNS. Early diagnosis of BCNS may allow for skin protection and surveillance at an earlier age.