Jung E G
Bull Cancer. 1978;65(3):315-21.
Xeroderma pigmentosum (XP) is a rare inherited, heterogeneous syndrome with pigment anomalies, sun sensitivity, multiple cutaneous neoplasms and abnormal self protecting systems (SPS). The transmittence is autosomal-recessive. 50 percent of XP patients gets melanoma and 15 percent have neurological abnormalities. Clinical differentiation, determination of the DNA repair rate and cell fusion studies allow the differentiation of 6 complementation groups including De Sanctis-Cacchione syndrome and the XP variant typ. Pigmented Xerodermoid is a special form. Cytogenetic studies give evidences for the model character of XP for UV carcinogenesis.
着色性干皮病（XP）是一种罕见的遗传性异质性综合征，具有色素异常、对日光敏感、多发性皮肤肿瘤和异常的自我保护系统（SPS）。其遗传方式为常染色体隐性遗传。50%的XP患者会患黑色素瘤，15%有神经学异常。临床鉴别、DNA修复率测定和细胞融合研究可区分包括德·桑克蒂斯-卡乔内综合征和XP变异型在内的6个互补组。色素性干皮病样是一种特殊形式。细胞遗传学研究为XP在紫外线致癌作用中的模型特征提供了证据。
