Hauck R M, Manders E K
Division of Plastic and Reconstructive Surgery, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033.
Ann Plast Surg. 1994 Jul;33(1):102-11. doi: 10.1097/00000637-199407000-00022.
A number of interesting syndromes have been described in which skin tumors are markers of heritable disorders. In Cowden's disease, Muir-Torre's syndrome, and Gardner's syndrome, benign skin tumors accompany and sometimes precede the development of internal visceral malignancy. The association of skin cancers with other abnormalities is found in nevoid basal cell carcinoma syndrome, Bazex syndrome, Rombo syndrome, xeroderma pigmentosum, dysplastic nevus syndrome, and epidermodysplasia verruciformis. Other genetic syndromes in which benign skin tumors herald the existence of systemic diseases include neurofibromatosis, tuberous sclerosis, Haber's syndrome, and Buschke-Ollendorff syndrome. Diagnosis of one of these syndromes may be ascertained by taking a thorough family history. Recognition of the skin tumor may trigger the proper questions regarding family medical history. Diagnosis hinges upon the physician having a high enough index of suspicion to link the appearance of the skin lesions to the diverse manifestations accompanying these disorders. Recognition will also set the stage for appropriate genetic counseling.
已描述了许多有趣的综合征,其中皮肤肿瘤是遗传性疾病的标志物。在考登病、穆尔-托雷综合征和加德纳综合征中,良性皮肤肿瘤伴随并有时先于内脏恶性肿瘤的发生。皮肤癌与其他异常的关联见于痣样基底细胞癌综合征、巴泽克斯综合征、罗姆博综合征、着色性干皮病、发育异常痣综合征和疣状表皮发育不良。其他良性皮肤肿瘤预示着全身性疾病存在的遗传综合征包括神经纤维瘤病、结节性硬化症、哈伯综合征和布希克-奥伦多夫综合征。通过详细询问家族病史可确诊这些综合征中的一种。对皮肤肿瘤的识别可能会引发关于家族病史的恰当问题。诊断取决于医生有足够高的怀疑指数,将皮肤病变的出现与这些疾病伴随的各种表现联系起来。识别也将为适当的遗传咨询奠定基础。