Norgauer Johannes, Idzko Marco, Panther Elisabeth, Hellstern Oliver, Herouy Yared
Department of Dermatology, University-Hospital, Hauptstr. 7, D-79104-Freiburg, Germany.
Eur J Dermatol. 2003 Jan-Feb;13(1):4-9.
Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. Xeroderma pigmentosum is based on a genetic defect in the DNA repair system. This disease manifests in early childhood. Patients with xeroderma pigmentosum have a marked sensitivity to sunlight and develop serious sunburns with onset of poikilodermia in the light-exposed skin. Squamous cell carcinomas, basal cell carcinomas and malignant melanomas already appear in childhood. The majority of patients die before reaching adulthood because of metastases. Genetically, xeroderma pigmentosum is divided into 7 complementation groups (XP-A to XP-G) and the xeroderma pigmentosum variants (XP-V). Diagnostically, assignment to the specific complementation group is made according to the fusioning of xeroderma pigmentosum fibroblasts. Differential diagnosis must distinguish xeroderma pigmentosum from other so-called DNA-repair-deficiency syndromes like the Cockayne Syndrome and trichothiodystrophy. Currently, there are reports of successful application of a topical DNA Repair Enzyme. This is a recombinant liposomal encapsulated T4 endonuclease V, which repairs UV-induced cyclobutan-pyrimidine dimers. In future, causal therapy could be based on gene therapy. The introduction of an intact repair gene which specifically codes the repair protein, could open new possibilities in the treatment of xeroderma pigmentosum.
着色性干皮病是一种以常染色体隐性方式遗传的罕见疾病。着色性干皮病基于DNA修复系统中的基因缺陷。这种疾病在儿童早期表现出来。着色性干皮病患者对阳光有明显的敏感性，在暴露于光的皮肤中会出现严重的晒伤，并伴有皮肤异色症的发作。鳞状细胞癌、基底细胞癌和恶性黑色素瘤在儿童期就已出现。大多数患者因转移在成年前死亡。从遗传学角度来看，着色性干皮病分为7个互补组（XP - A至XP - G）和着色性干皮病变异型（XP - V）。在诊断方面，根据着色性干皮病成纤维细胞的融合情况来确定具体的互补组。鉴别诊断必须将着色性干皮病与其他所谓的DNA修复缺陷综合征如科凯恩综合征和毛发硫营养不良区分开来。目前，有关于局部应用DNA修复酶取得成功的报道。这是一种重组脂质体包裹的T4内切酶V，它能修复紫外线诱导的环丁烷嘧啶二聚体。未来，病因治疗可能基于基因治疗。引入一个能特异性编码修复蛋白的完整修复基因，可能为着色性干皮病的治疗开辟新的途径。
