Eyelid squamous cell carcinoma in the setting of epidermodysplasia verruciformis (EV) diagnosed by next-generation sequencing: A case report and literature review

We describe a 41-year-old Asian male who presented with a left upper eyelid mass for one year associated with multiple pigmented maculopapules on his face, who was found to have Epidermodysplasia verruciformis (EV). The ophthalmic examination was unremarkable. The patient spontaneously started to have disseminated, bean-sized, pinkish flat papules on his forehead since childhood and had history of multiple non-melanoma skin carcinoma. He had been treated as possible xeroderma pigmentosum (XP) by dermatologists. The oculoplastic surgeon resected the lesion and submitted tissue for histopathological and genetic analysis. Eyelid biopsy was consistent with a squamous cell carcinoma (SCC). Next-generation Sequencing (Sanger sequencing) suggested the homozygous mutation of TMC8 gene which is indicative of EV. Our case is a rare report in eyelid SCC in the setting of EV. This patient highlights the importance of considering systemic genodermatosis rather than individual eyelid malignancy and the function of molecular diagnosis in clinical challenge case.