XP-See: Unexpected Findings and a Suggestion of Systemic Disease

Xeroderma pigmentosum type C (XP-C) is a rare, hereditary skin disorder caused by defects in nucleotide excision repair, the main pathway responsible for correction of ultraviolet-induced DNA damage. XP-C is characterized by photophobia and premature skin cancers. To describe the full spectrum of clinical findings in this condition, investigators in France studied a case series of 31 patients with XP-C (18 male; most with origins in North Africa).

Early photophobia was the first clinical symptom in 32% of patients. Skin symptoms started at a mean age of 1.5 years, and mean age at diagnosis was 2.95 years. All children had normal height for weight at birth, but short stature progressed with age. Sixteen patients (62%) had pyramidal syndrome (…