Xeroderma pigmentosum variant associated with multiple cancers |
| |
Authors: | K Kuwamoto MD H Miyauchi-Hashimoto T Isei T Horio |
| |
Institution: | Department of Dermatology, Kansai Medical University, Osaka, Japan. |
| |
Abstract: | A 62-year-old Japanese man with xeroderma pigmentosum (XP) variant is reported. The patient had developed at least 6 basal cell carcinomas, a squamous cell carcinoma, and a malignant melanoma on sun-exposed areas, and an atypical carcinoid on the right lung. In vivo phototesting showed a normal response. The minimal erythema dose of ultraviolet B (UVB) was not lowered and no delayed peaking of the erythema reaction was observed. His skin fibroblasts exhibited higher sensitivity to UV irradiation, but a normal level of unscheduled DNA and RNA synthesis. Cell fusions with XP group A, C, D, E, F, and G cells after UV irradiation were all complemented. Previous reports together with this case suggest that older XP variant patients have a high frequency of not only skin cancers, but also internal malignancies. |
| |
Keywords: | xeroderma pigmentosum multiple skin cancers internal malignancy |
|
|