中华皮肤科杂志 ›› 1997, Vol. 30 ›› Issue (4): 230-231.

• 论著 • 上一篇    下一篇

先天性大疱性表皮松解症伴厚甲一例及家系调查

杨学英, 李思奉, 刘若英, 魏羽佳   

  1. 贵阳医学院附属医院 550004
  • 收稿日期:1996-07-19 修回日期:1996-11-05 出版日期:1997-08-15 发布日期:1997-08-15

Congenital Epidermolysis Bullosa Combined with Pachyonychia: Report of One Case and Pedigree Investigation

Yang Xueying, Li Sifeng, Liu Ruoying   

  1. Guiyang Medical College Hospital, Guiyang 550004
  • Received:1996-07-19 Revised:1996-11-05 Online:1997-08-15 Published:1997-08-15

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。

关键词: 大疱性表皮松解症, 厚甲, 系谱调查, HLA

Abstract: 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.

Key words: Epidermolysis bullosa, Pachyomychia, Pedigree investigation, HLA