关键词: 大疱性表皮松解症 , 营养不良型 , 家系调查

Abstract: Two families investigation on dominant dystrophic epidermolysis bullosa and detection of the mutation of COL7A1 gene are reported．The proband of the first family was a 6-year-old girl，who presented with a 6-year history of pruritc vesicles and papules on both shins. the reduced numbers of anchoring fibrils and basal keratinocyte vacuolization were found below the lamina densa of the basement membrane zone. Out of 26 members of 4 generations in the pedigree only the first proband, the others were normal, his parents were consanguineous marriage. diagnosed as recessive dystrophic epidermolysis bullosa (RDEB), generalized other. The proband of the second family was a 6-year-old-boy，who presented with pruritc vesicles and anabrosis on both shins. absent or rudimentary anchoring fibrils were also found below the lamina densa of the basement membrane zone. Out of 20 members of 3 generations in the pedigree only the second proband, the others were normal. diagnosed as RDEB, severe generalized. The COL7A1 gene mutation have not dicovered as others’reported in Chinese patients.

Key words: epidermolysisbullosa, dystrophica, family investigation