Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
Living with xeroderma pigmentosum: comprehensive photoprotection for highly photosensitive patients.
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DOI：
10.1111/phpp.12108
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发表时间：
2014-04
期刊：
影响因子：
--
通讯作者：
Kraemer KH
中科院分区：
文献类型：
--
作者：
Tamura D;DiGiovanna JJ;Khan SG;Kraemer KH
着色性干皮病（XP）是一种罕见的常染色体隐性脱氧核糖核酸（DNA）修复疾病，具有紫外线（UV）辐射敏感性，患皮肤癌的风险增加1万倍。症状包括：2岁前暴露在阳光下的皮肤出现雀斑样色素沉着，少量阳光照射后严重烧伤（50%患者），眼睛暴露表面损伤，伴有视力丧失和眼癌。大约25%的患者发展为进行性神经变性。皮肤和眼部症状的发生，必须是由于遗传的无法修复紫外线引起的DNA损伤和环境暴露于紫外线的双重原因。XP没有治愈的方法，但它的许多表现可以通过持续的紫外线防护来减少或预防；因此，XP可作为具有明显光敏性的患者的防晒模型。防晒服，包括帽子、太阳镜和面罩、防晒乳液和避免环境紫外线来源是预防皮肤和眼睛损伤和癌症的基础。虽然XP是一种严重的疾病，有可能限制预期寿命，但XP患者可以在避免紫外线照射的同时积极生活。
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.
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影响因子：
3.6
作者：
Emmert, Steffen;Ueda, Takahiro;Kraemer, Kenneth H.
通讯作者：
Kraemer, Kenneth H.
影响因子：
3.8
作者：
Kleijer, Wim J.;Laugel, Vincent;Lehmann, Alan R.
通讯作者：
Lehmann, Alan R.
影响因子：
4
作者：
Bradford PT;Goldstein AM;Tamura D;Khan SG;Ueda T;Boyle J;Oh KS;Imoto K;Inui H;Moriwaki S;Emmert S;Pike KM;Raziuddin A;Plona TM;DiGiovanna JJ;Tucker MA;Kraemer KH
通讯作者：
Kraemer KH
影响因子：
14.5
作者：
Totonchy, Mariam B.;Tamura, Deborah;Brewer, Carmen C.
通讯作者：
Brewer, Carmen C.
影响因子：
14.5
作者：
ROBBINS, JH;BRUMBACK, RA;TARONE, RE
通讯作者：
TARONE, RE