Fölster-Holst R, Schubert C, Christophers E
Hautklinik, Christian-Albrechts-Universität, Kiel.
Hautarzt. 1994 Aug;45(8):554-61. doi: 10.1007/s001050050126.
Xeroderma pigmentosum comprises a heterogeneous group of autosomal recessive hereditary diseases, which are characterized by a number of clinical characteristics and an abnormal DNA repair mechanism. Patients affected show a high frequency of mucocutaneous malignant tumors, especially squamous cell carcinomas and basal cell carcinomas. We report on a 65-year-old patient who successively developed a total of 15 malignant melanomas, 1 squamous cell carcinoma and 1 lymph node metastasis of a malignant melanoma. The clinical diagnosis of xeroderma pigmentosum was confirmed by the complementation analysis, which defined our patient as xeroderma pigmentosum of the complementation group D.
着色性干皮病是一组常染色体隐性遗传性疾病的异质性群体,其特征在于多种临床特征和异常的DNA修复机制。受影响的患者发生皮肤黏膜恶性肿瘤的频率很高,尤其是鳞状细胞癌和基底细胞癌。我们报告了一名65岁的患者,其先后共发生了15例恶性黑色素瘤、1例鳞状细胞癌和1例恶性黑色素瘤的淋巴结转移。通过互补分析确诊了着色性干皮病的临床诊断,该分析将我们的患者定义为互补组D型着色性干皮病。