关键词: 先天性黑痣, &emsp, 流行病学, &emsp, 危险因素, &emsp, 表型

Abstract: Objective  To explore the relationship between clinical phenotype and clinical manifestations of large-togiant congenital melanocytic nevi （LGCMN）， analyze the differences in risk factors during the embryonic period between normal children and patients with congenital melanocytic nevi （CMN）， and provide a new strategy for the prevention of this disease. Methods In total， 125 patients diagnosed with congenital melanocytic nevi （CMN） were recruited and completed the questionnaire， which contained questions about phenotype， clinical manifestations， family history， and risk factors during pregnancy. In the control group， 66 parents of children without CMN were asked questions about their family history and pregnancy risk factors. Results Pruritis or ulceration was correlated with projected adult size（ P=0.007）， satellite nevi （OR=4.712， P=0.035）， and complications（ OR=13.377， P=0.006）. Lesion rugosity was significantly associated with lesion bulge （OR=22.873， P<0.001）. Malignant melanoma developed in 1.6% of the CMN patients； both had LGCMN and >20 satellites. CMN incidence was significantly associated with a family history of hyperpigmentation disorders（ 26.4% vs. 6.06%， P<0.001）， complications during pregnancy （48.0% vs. 28.8%， P=0.019） and a history of chemical substance exposure （15.2% vs. 1.5%， P=0.007）. Conclusion This study provides novel clues about the association between phenotypes and manifestations and provides potential knowledge on the LGCMN aetiology. In addition， analysis of family history and risk factors during pregnancy also provides strategies for prevention of the disease.

Key words: Congenital melanocytic nevi, &emsp, Epidemiology, &emsp, Risk factor, &emsp, Phenotype