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先天性大疱性表皮松解症伴厚甲一例及家系调查

Congenital Epidermolysis Bullosa Combined with Pachyonychia: Report of One Case and Pedigree Investigation
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摘要 报道一例先天性大疱性表皮松解症伴厚甲患儿,追踪观察11年,并对其家系进行了调查,检测了该家系中16人的HLA-A、B位点抗原。结果表明:该家系中共60人,其中24人有不同的皮肤病,除先天性表皮松解症伴厚甲4例外,尚有白色丘疹样大疱性表皮松解症伴厚甲9例,鱼鳞病2例和单纯甲增厚9例,但是该家系16人的HLA系谱分析尚不能证明上述病症的遗传基因与HLA连锁。 One patient with congenital epidermolysis bullosa combined with pachyonychia was reported, and followed up for 11 years. The pedigree of the patient was investigated, and the loci of HLA-A, B antigens of 16 members of the pedigree were determined. The results showed that there were 60 members in the pedigree, among them 24 members had different kinds of skin diseases : 4 cases of epidermolysis bullosa combined with pachyonychia, 9 eases of albopapuloid form of epidermolysis hullosa combined with pachyonychia, 2 cases of icthyosis and 9 cases of pachyonychia simplex. The result of HLA-A, B antigens analysis of 16 members of the pedigree showed no evidence of the genes of these patients linked with HLA-A, B antigens.
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 1997年第4期230-231,共2页 Chinese Journal of Dermatology
关键词 大疱性表皮松解 厚甲 系谱调查 HLA 家系调查 Epidermolysis bullosa Pachyomychia Pedigree investigation HLA
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参考文献2

  • 1郑茂荣,遗传性皮肤病,1989年,178页
  • 2周茂梅,遗传学杂志,1984年,4卷,25页

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