Green W Harris, Wang Steven Q, Cognetta Armand B
Division of Dermatology, Brody College of Medicine at East Carolina University, 600 Moye Blvd, Brody Medical Sciences 3E-117, Greenville, NC 27834, USA.
Arch Dermatol. 2009 Aug;145(8):910-5. doi: 10.1001/archdermatol.2009.87.
Xeroderma pigmentosum (XP) is an autosomal recessive disorder characterized by a defect in DNA repair and subsequent increased frequency of cutaneous malignant neoplasms, including melanoma. In patients with XP, patient and family education and aggressive UV radiation protection are the primary means of skin cancer prevention. An important secondary measure in decreasing morbidity and mortality in these patients involves early detection of skin cancers, particularly melanomas.
We describe a 39-year-old woman with XP who developed 38 primary melanomas along with 6 squamous cell carcinomas and 70 basal cell carcinomas over a 23-year period. During this time, a 3-fold management approach of total-body cutaneous examination, total-body photography, and dermoscopy was used in the care of the patient. The thickest melanoma had a Breslow thickness of 1.07 mm, and the mean Breslow thickness of her detected melanomas was 0.18 mm. The ratio of benign to malignant biopsied suspicious melanocytic lesions during 23 years of follow-up was 0.9:1. All melanomas were treated using wide local excision, and she had no evidence of local or in-transit metastases of any of her malignant neoplasms at the most recent follow-up examination. Conclusion Monthly follow-up using total-body cutaneous examinations, total-body photography, and dermoscopy is an important 3-fold secondary management technique for this unique patient, allowing early detection of her melanomas.
着色性干皮病（XP）是一种常染色体隐性疾病，其特征为DNA修复缺陷以及包括黑色素瘤在内的皮肤恶性肿瘤发生频率增加。对于XP患者，患者及家属教育和积极的紫外线防护是预防皮肤癌的主要手段。降低这些患者发病率和死亡率的一项重要二级措施是早期发现皮肤癌，尤其是黑色素瘤。
我们描述了一名39岁的XP女性患者，在23年期间发生了38例原发性黑色素瘤，以及6例鳞状细胞癌和70例基底细胞癌。在此期间，对该患者采用了全身皮肤检查、全身摄影和皮肤镜检查这三种方法相结合的管理方式。最厚的黑色素瘤 Breslow厚度为1.07mm，她所检测到的黑色素瘤的平均Breslow厚度为0.18mm。在23年的随访期间，活检的可疑黑素细胞性病变中良性与恶性的比例为0.9:1。所有黑色素瘤均采用广泛局部切除术治疗，在最近一次随访检查时，她的任何恶性肿瘤均无局部或转移途中转移的证据。结论 每月通过全身皮肤检查、全身摄影和皮肤镜检查进行随访，对于这位特殊患者而言是一项重要的三联二级管理技术，可实现其黑色素瘤的早期发现。
