Kocabalkan O, Ozgür F, Erk Y, Gürsu K G, Güngen Y
Department of Plastic and Reconstructive Surgery, Hacettepe University Medical School, Ankara, Turkey.
Eur J Surg Oncol. 1997 Feb;23(1):43-7. doi: 10.1016/s0748-7983(97)80141-2.
Xeroderma pigmentosum is a rare genetic disease transmitted via a recessive gene with an altered reaction of the epidermis to light. Fifty per cent of patients develop a skin tumour by 8 years of age. The majority of patients may have multiple tumours, but metastasis is rare. In the last 25 years we have treated 24 xeroderma pigmentosum patients in our clinic. Only five patients had developed cutaneous malignant melanoma during their follow-up. Three of the patients were from the same family, melanoma occurring in three of five affected individuals. All xeroderma pigmentosum patients with malignant melanoma had received classical treatment modalities. Except one case of fulminant pattern, all four patients had long disease-free survival. Although early detection and treatment of these cutaneous malignancies will reduce morbidity and mortality, genetic counselling remains the most important protective measure for xeroderma pigmentosum.
着色性干皮病是一种罕见的遗传性疾病，通过隐性基因传播，其表皮对光的反应发生改变。50%的患者在8岁前会发生皮肤肿瘤。大多数患者可能有多个肿瘤，但转移很少见。在过去25年里，我们诊所治疗了24例着色性干皮病患者。在随访期间，只有5例患者发生了皮肤恶性黑色素瘤。其中3例患者来自同一家庭，5名受影响个体中有3人发生了黑色素瘤。所有患有恶性黑色素瘤的着色性干皮病患者都接受了传统的治疗方式。除1例暴发性病例外，其余4例患者均有较长的无病生存期。虽然早期发现和治疗这些皮肤恶性肿瘤将降低发病率和死亡率，但遗传咨询仍然是着色性干皮病最重要的保护措施。
