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

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.