Miyauchi-Hashimoto H, Akaeda T, Maihara T, Ikenaga M, Horio T
Department of Dermatology, Kansai Medical University, Moriguchi, Osaka, Japan.
J Am Acad Dermatol. 1998 Oct;39(4 Pt 1):565-70. doi: 10.1016/s0190-9622(98)70005-2.
Although patients with mild symptoms of atypical Cockayne syndrome (CS) have been described, there has not been a report of a patient with CS whose only clinical manifestation was cutaneous photosensitivity. Cells from patients with CS show UV sensitivity, reduced recovery of RNA synthesis, but normal UV-induced unscheduled DNA synthesis. On the other hand, the patients with UV-sensitive syndrome have only cutaneous photosensitivity and skin freckles, whereas those cells respond to UV radiation in a similar fashion to the CS cells. We describe a patient with CS who showed only photosensitivity without typical clinical manifestations of CS, but his cells showed UV sensitivity, reduced recovery of RNA synthesis, and normal unscheduled DNA synthesis after UV radiation similar to CS cells. Furthermore, the patient was assigned to complementation group B of CS on the basis of the results of complementation analysis. The present report suggests that CS has a wider spectrum than that considered previously.
虽然已经有关于非典型科凯恩综合征（CS）轻度症状患者的描述，但尚未有报告称CS患者的唯一临床表现是皮肤光敏性。CS患者的细胞表现出紫外线敏感性、RNA合成恢复减少，但紫外线诱导的非程序性DNA合成正常。另一方面，紫外线敏感综合征患者仅有皮肤光敏性和皮肤雀斑，而这些细胞对紫外线辐射的反应与CS细胞相似。我们描述了一名CS患者，其仅表现出光敏性，无CS的典型临床表现，但其细胞表现出紫外线敏感性、RNA合成恢复减少，且紫外线辐射后非程序性DNA合成正常，与CS细胞相似。此外，根据互补分析结果，该患者被归为CS互补组B。本报告表明，CS的范围比之前认为的更广。
