Kucan J O, Orgel M G
Plast Reconstr Surg. 1985 Jan;75(1):107-11. doi: 10.1097/00006534-198501000-00025.
Xeroderma pigmentosum is an infrequently occurring disease characterized by premature solar skin degeneration owing to an inherent deficiency in the enzymatic process of excision repair of x-ray-induced DNA alterations. Currently, there are six known genetic forms of this disease. The presence or absence of central nervous system involvement is a manifestation of the heterogeneity of the disease. Survival beyond the third decade of life is unusual. The authors present a 46-year-old patient with proven xeroderma pigmentosum who manifests many characteristic features of this affliction and may be one of the oldest, if not the oldest, living survivor of this unusual disease.
着色性干皮病是一种罕见的疾病，其特征是由于X射线诱导的DNA改变的切除修复酶过程存在内在缺陷，导致皮肤过早出现日光性退变。目前，已知该疾病有六种遗传形式。中枢神经系统受累与否是该疾病异质性的一种表现。活到三十多岁以上并不常见。作者报告了一名46岁确诊为着色性干皮病的患者，该患者表现出这种疾病的许多特征，可能是这种罕见疾病现存最年长（即便不是最年长）的幸存者之一。
