title: 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.
authors.affiliation: Dermatology Branch, Center for Cancer Research, National Institutes of Health, National Cancer Institute, Bethesda, MD, USA.
authors.forename: Deborah
authors.initials: D
authors.lastname: Tamura
authors.forename: John J
authors.initials: JJ
authors.lastname: DiGiovanna
authors.forename: Sikandar G
authors.initials: SG
authors.lastname: Khan
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Kraemer
mesh_terms: D000818:Animals; D001766:Blindness / Q000517:prevention & control*; D004249:DNA Damage; D005134:Eye Neoplasms / Q000517:prevention & control*; D006801:Humans; D012878:Skin Neoplasms / Q000517:prevention & control*; D012880:Skin Pigmentation / Q000187:drug effects / Q000528:radiation effects; D013473:Sunscreening Agents / Q000627:therapeutic use*; D014983:Xeroderma Pigmentosum
chemical_list: D013473:Sunscreening Agents
keywords: DNA repair; genetic disease; skin cancer; sun protection; xeroderma pigmentosum