ABSTRACT
This chapter presents the case study of a 17-year-old woman. She had collapsed in the high street; witnesses called an ambulance immediately as she began to fit. She had further fits on the way to hospital and the paramedical team described classic generalized tonic–clonic seizures, including a stereotypical ictal cry. Her family are on their way to the hospital. She is drowsy and confused on arrival. Her Medi-Alert bracelet confirms that she is known to have epilepsy and that she has another diagnosis, ‘Xeroderma pigmentosa (XP)’. XP is a rare autosomal recessive skin disorder characterized by dramatic and early-onset photodamage of sun-exposed areas of the skin. XP is caused by an inherited defect in repair of ultraviolet-induced DNA damage. Skin cancers arise from a young age, are typically multiple and result in significant morbidity and potentially early death.
