Banda Vanaja Reddy, Banda Naveen Reddy, Reddy Ramesh, Banda Praveen
Department of Oral Medicine and Radiology, Modern Dental College and Research Centre, Indore, Madhya Pradesh, India.
BMJ Case Rep. 2012 Dec 18;2012:bcr2012007521. doi: 10.1136/bcr-2012-007521.
Xeroderma pigmentosum (XP) is heterogeneous group of disorder transmitted as autosomal recessive trait. It is characterised by photosensitivity, freckled pigmentation and premature skin ageing and malignant tumour development. The manifestations are due to a cellular hypersensitivity to ultraviolet light resulting from a defect in DNA repair. Multiple cutaneous neoplasms develop at a young age in persons with XP. Two important causes of mortality are metastatic malignant melanoma and squamous cell carcinoma (SCC). We report a case of XP in a 22 year-old male patient who developed SCC of lower lip with in a short period of 1 month.
着色性干皮病(XP)是一组以常染色体隐性遗传特征传递的异质性疾病。其特征为光敏性、雀斑样色素沉着、皮肤过早老化以及恶性肿瘤形成。这些表现是由于DNA修复缺陷导致细胞对紫外线过敏所致。XP患者在年轻时就会出现多种皮肤肿瘤。转移性恶性黑色素瘤和鳞状细胞癌(SCC)是两个重要的致死原因。我们报告一例22岁男性XP患者,该患者在短短1个月内就发生了下唇鳞状细胞癌。