Congenital Epidermolysis Bullosa Combined with Pachyonychia: Report of One Case and Pedigree Investigation / 中华皮肤科杂志

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.