Department of Clinical Dermatology, Indiana University School of Medicine, 2525 University Avenue, Muncie, IN 47303, USA.
Arch Dermatol Res. 2010 Apr;302(3):169-70. doi: 10.1007/s00403-009-0997-8. Epub 2009 Nov 10.
Myotonic muscular dystrophy (MMD) is caused by an abnormal function of RNA-binding proteins (RBP) resulting in DNA spliceopathy. A case of a patient, with MMD multiple basal and squamous cell carcinomas and dysplastic nevi, is described. The association between MMD and non-melanoma skin cancer has been reported before; however, this association was described before the genetic defect of myotonic dystrophy has been fully elucidated. The author proposes a genetic mechanism on how abnormal function of RBP can result or contribute to the development of human skin cancer and propose an explanation for this association between MMD and cutaneous carcinogenesis.
肌强直性营养不良(MMD)是由 RNA 结合蛋白(RBP)的异常功能引起的,导致 DNA 剪接异常。描述了一例 MMD 多发性基底细胞和鳞状细胞癌以及发育不良痣的患者。MMD 与非黑色素瘤皮肤癌之间的关联以前已有报道;然而,这种关联是在完全阐明肌强直性营养不良的遗传缺陷之前描述的。作者提出了一种遗传机制,说明 RBP 的异常功能如何导致或促成人类皮肤癌的发展,并对 MMD 与皮肤癌变之间的这种关联提出了解释。