Kraemer K H, Lee M M, Scotto J
Arch Dermatol. 1987 Feb;123(2):241-50. doi: 10.1001/archderm.123.2.241.
Quantitative frequencies of clinical abnormalities in xeroderma pigmentosum were estimated by abstracting published descriptions of 830 patients in 297 articles obtained from a survey of the medical literature from 1874 to 1982. The median patient age was 12 years with nearly equal numbers of male and female patients. Cutaneous symptoms (sun sensitivity or freckling) had a median age of onset of between 1 and 2 years. Forty-five percent of the patients described had basal cell carcinoma or squamous cell carcinoma of the skin. The median age of first nonmelanoma skin cancer among patients with xeroderma pigmentosum was 8 years, more than 50 years less than that among patients with skin cancer in the United States. Melanomas were reported in 5% of patients. Ninety-seven percent of the reported basal and squamous cell carcinomas and 65% of the melanomas in patients with xeroderma pigmentosum occurred on the face, head, or neck. Seventy percent probability of survival was attained at age 40 years, a 28-year reduction in comparison with the US general population. Ocular abnormalities were reported in 40% of the patients described and were restricted to tissues exposed to ultraviolet radiation (lid, conjunctiva, and cornea) and included ectropion, corneal opacity leading to blindness, and neoplasms. Neurologic abnormalities were found in 18% of the cases reported, consisting of progressive mental deterioration, hyporeflexia or areflexia, and progressive deafness in some patients in association with dwarfism and immature sexual development. There was scant information concerning the efficacy of any therapeutic regimen.
通过提取1874年至1982年医学文献调查中297篇文章里830例患者的已发表描述，估算了着色性干皮病临床异常的定量频率。患者的中位年龄为12岁，男性和女性患者数量几乎相等。皮肤症状（日光敏感性或雀斑）的中位发病年龄在1至2岁之间。所描述的患者中有45%患有皮肤基底细胞癌或鳞状细胞癌。着色性干皮病患者首次发生非黑色素瘤皮肤癌的中位年龄为8岁，比美国皮肤癌患者的中位年龄少50多年。5%的患者报告有黑色素瘤。着色性干皮病患者报告的基底细胞癌和鳞状细胞癌中有97%以及黑色素瘤中有65%发生在面部、头部或颈部。40岁时的生存概率为70%，与美国普通人群相比缩短了28年。40%的所描述患者报告有眼部异常，且仅限于暴露于紫外线辐射的组织（眼睑、结膜和角膜），包括睑外翻、导致失明的角膜混浊和肿瘤。报告的病例中有18%发现有神经学异常，包括进行性智力衰退、反射减退或无反射，以及一些患者伴有侏儒症和性发育不成熟的进行性耳聋。关于任何治疗方案的疗效信息很少。
