Xeroderma pigmentosum in a pediatric patient with a progressive pterygium-like lesion

Purpose: We report a case of xeroderma pigmentosum in a pediatric patient with a progressive pterygium-like lesion. Case summary: A 2-year-old girl with photophobia and localized, scattered, small, round brownish macules on skin areas exposed to the sun visited hospital. During follow-up, at the age of 7, she was diagnosed with xeroderma pigmentosum in Japan, and pigmented freckles on the upper and lower eyelids of both eyes were observed. At the age of 11, a possible medial limbal pingueculum and lower lid telangiectasis of the right eye were observed via slit-lamp examination, and one year later, a pterygium-like lesion and gradual fibrovascular tissue growth were found in the same location of the right eye. At the last visit, the progressive pterygium-like lesion and, lower lid telangiectasis of the right eye, and lid pigmentations of both eyes (xeroderma pigmentosum) were observed. The size of pterygium-like lesion continues to increase, but the patient remains under observation because the lesion was too small to remove. Conclusions: We report the first case of xeroderma pigmentosum in a pediatric patient with a progressive pterygium-like lesion that showed age-related degeneration. We suggest that the pterygium-like lesion may reflect the photosensitivity to ultraviolet radiation characteristic of xeroderma pigmentosum.