关键词: 局灶性皮肤发育不全, 基因检测, 大疱性表皮松解, 遗传性疾病, 先天性, COL7A1基因

Abstract: Fan Xiaoyan, Li Hui, Wang Jia, Yang Li, Wu Hui Department of Neonatology, Jiangsu Taizhou People′s Hospital, Taizhou 225300, Jiangsu, China（Fan XY, Li H, Yang L）; Department of Reproductive Medicine, Jiangsu Taizhou People′s Hospital, Taizhou 225300, Jiangsu, China（Wang J）; Department of Dermatology, Jiangsu Taizhou People′s Hospital, Taizhou 225300, Jiangsu, China（Wu Hui） Corresponding author: Fan Xiaoyan, Email: fxyang@126.com 【Abstract】 A female infant presented with skin defects and blisters for 2 hours after birth. Physical examination showed asymmetric skin defects on both lower extremities and left wrist, a thin-walled blister on the dorsal side of the right hand, and partial loss of the oral mucosa. No other abnormal signs were found. Genetic testing showed a heterozygous pathogenic mutation c.481C > T （p. Gln161*） in exon 4 of the COL7A1 （NM-000094） gene and a heterozygous pathogenic mutation c.1837C > T （p. Arg613*） in exon 14 of the COL7A1 （NM-000094） gene, which were also identified in the patient′s father and mother respectively. The infant was diagnosed with congenital skin defects. The patient received protective isolation, focal washing with 0.9% sodium chloride physiological solution, topical epidermal growth factor and comprehensive treatment for infection prevention. After 6-day treatment, the patient was discharged with dry and non-exudative skin lesions. This case ed that abnormal heterozygosis mutation at C.481 and C.1837 sites on the COL7A1（NM-000094）gene could form compound heterozygote, acting as pathogenic mutation.

Key words: Focal dermal hypoplasia, Genetic testing, Epidermolysis bullosa, Genetic diseases, inborn, COL7A1 gene