Photosensitivity, corneal scarring and developmental delay: Xeroderma Pigmentosum in a tropical country

摘要

We present the case of an 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age, and taken as a whole the consensus was that this clinical picture was consistent with Xeroderma Pigmentosum (XP). We highlight the difficulties encountered due to the lack of diagnostic and treatment modalities for this child, and offer a brief review of XP, including emerging treatments that show potential.