A 16-year-old boy with scarring over his face is referred to the dermatology out-patient clinic. He reports a history of burning and stinging of his skin (especially his nose) whilst outside playing football. On direct questioning his parents recall as a small child he would cry after a few minutes of sun exposure. His parents had also noted his skin would then turn red and blister. Consequently, as a young child they tried to keep him out of the sun as much as possible. However, as a teenager keen on sports he has recently noticed a deterioration of the skin on his face. He is otherwise well and takes no medication.
Examination
Over his cheeks and nose the skin appears waxy and atrophic with multiple areas of pitted scarring. Areas of hyperpigmentation and milia are seen on the dorsal aspects of his hands.
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