Fig. 1.
Sunburning in XP-D patient and lack of burning in XP-C patients. (a–c) XP-D patient (XP499BE) who sustained severe blistering sunburn following intermittent evening sun exposure. (a) Five months of age: day 8 after sun exposure – swelling and burns of face resolving with delayed erythema on dorsum of right arm and hand. (b) Day 8 after sun exposure – delayed swelling, erythema, blistering, and peeling on dorsum of left hand and wrist. (c) Age 11 months: excellent sun protection and normal skin exam. (d and e) XP-C siblings with no history of burning on minimal sun exposure. (d) Older sister age 12 (XP198BE) – diagnosed at age 1 year secondary to freckling on face, hands, and arms. She had excellent UV protection since diagnosis and had 1 BCC in her scalp; (e) Patient XP338BE, 7-year-old brother of patient XP198BE. He had excellent UV protection since diagnosis at birth and no clinical evidence of XP. (f) XP-C patient (XP24BE) age 32 years, did not have a history of burning on minimal sun exposure. She had a relatively late age of diagnosis (age 8 years) and poor UV protection. She has multiple lentigines, chelitis, telangiectasias, and > 200 skin cancers. She died at age 35 years of a glioblastoma of her brain (21).