Stary A, Sarasin A
Laboratoire de Génétique moléculaire, Institut de Recherches sur le Cancer, Villejuif.
Presse Med. 1997 Dec 20;26(40):1992-7.
MAIN CLINICAL FEATURES: Xeroderma pigmentosum is a rare, recessive disorder clinically characterized by extreme photosensitivity, pigmented abnormalities of the skin-exposed areas, and frequent ocular and neurological abnormalities. Xeroderma pigmentosum syndrome is associated with an estimated 2000-fold increase in the risk to develop skin cancer (basal cell carcinoma, squamous cell carcinoma and melanoma).
Skin or blood cells from Xeroderma pigmentosum patients are hypersensitive to killing by ultraviolet and hypermutable after ultraviolet C treatment Cell fusion experiments based on complementation of repair synthesis have recognized the presence of seven Xeroderma pigmentosum groups which exhibit various defects in the initial steps of the DNA nucleotide excision repair pathway. A variant Xeroderma pigmentosum form has been found to be normal in nucleotide excision repair but abnormal in a poorly to be normal in nucleotide excision repair but abnormal in a poorly understood postreplication repair process.
The Xeroderma pigmentosum complementation groups differ in terms of severity of clinical, cellular and genetic features. Molecular and biochemical studies of the Xeroderma pigmentosum syndrome have led to a better understanding of the mechanisms of ultraviolet-induced sensitivity and the mechanism of cancer development after ultraviolet exposure.
主要临床特征：着色性干皮病是一种罕见的隐性疾病，临床特征为极度光敏性、皮肤暴露部位色素异常，以及频繁出现眼部和神经异常。着色性干皮病综合征患者患皮肤癌（基底细胞癌、鳞状细胞癌和黑色素瘤）的风险估计增加2000倍。
着色性干皮病患者的皮肤或血细胞对紫外线杀伤高度敏感，经紫外线C处理后高度易变。基于修复合成互补的细胞融合实验已确认存在七个着色性干皮病组，它们在DNA核苷酸切除修复途径的初始步骤中表现出各种缺陷。已发现一种变异型着色性干皮病在核苷酸切除修复方面正常，但在一个了解甚少的复制后修复过程中异常。
着色性干皮病互补组在临床、细胞和遗传特征的严重程度方面存在差异。对着色性干皮病综合征的分子和生化研究有助于更好地理解紫外线诱导的敏感性机制以及紫外线暴露后癌症发生的机制。
