Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease of deoxyribonucleic acid (DNA) repair with ultraviolet (UV) radiation sensitivity and a 10 000-fold increased risk of skin cancer. Symptoms include: freckle-like pigmentation in sun-exposed skin before age 2 years, severe burns after minimal sun exposure (50% of patients) and damage to exposed surfaces of the eyes with loss of vision and ocular cancer. About 25% of patients develop a progressive neurodegeneration. The combination of an inherited inability to repair UV-induced DNA damage and environmental exposure to UV must occur for cutaneous and ocular symptoms to develop. There is no cure for XP, but many of its manifestations may be reduced or prevented through consistent UV protection; thus XP serves as a model for sun protection of patients with marked photosenstivity. Sun protective clothing including hats, sunglasses and face shields, sun screen lotions and avoidance of environmental sources of UV are cornerstones of prevention of skin and eye damage and cancer. Although XP is a serious disease with the potential for limitation of life expectancy, XP patients can live active lives while at the same time avoiding UV.

Keywords: DNA repair; genetic disease; skin cancer; sun protection; xeroderma pigmentosum.

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).

Fig. 2.

Well-dressed XP patient. XP-D Patient XP341BE, age 4 years, is wearing long sleeves, long pants (denim), UV-blocking gloves, closed toe shoes, and UV blocking ‘hood’ with clear face shield. He is wearing sunglasses for eye protection as well as for reduction in his photophobia.