Conjunctival ganglioglioma as a feature of basal cell nevus syndrome

Basal cell nevus syndrome (MIM #109400), also known as Gorlin syndrome, is a rare, autosomal-dominant disorder with complete penetrance and variable expressivity. The syndrome is characterized by odontogenic keratocysts of the mandible, postnatal tumors, and multiple basal cell carcinomas. Mutations in the PTCH1 gene (a tumor suppressor gene) or, more rarely, the NBCCS or the TRPC1 genes are responsible for the development of many postnatal tumors. We present a case of Gorlin syndrome presenting as a conjunctival ganglioglioma in a 13-year-old girl. While cases of cerebral ganglioglioma have been described in association with Gorlin syndrome, conjunctival ganglioglioma has not, to the best of our knowledge, been reported.