Familial Occurrence of Pemphigus Foliaceus

Human leukocyte antigen genotypes and antibody profiles associated with familial pemphigus in Japanese

“…In the previously reported familial cases, there has been no clear association between HLA haplotypes and phenotypes of pemphigus, and the phenotypes have sometimes varied during the clinical course. The majority of patients presented with the same clinical phenotypes in the same‐family members, with a predominant PV phenotype 1–14 . The minority of patients presented with different phenotypes than their relatives 6,8 .…”

“…As far as we know, there have been less than 40 reports with familial pemphigus, [1][2][3][4][5][6][7][8][9][10][11][12][13][14] and HLA analysis has been performed in several reports. Unfortunately, complete studies on HLA genotypes, clinicopathological features and anti-Dsg antibody profiles have not been performed completely.…”

“…Pemphigus is a group of autoimmune blistering diseases, including two major subtypes: pemphigus vulgaris (PV) and pemphigus foliaceus (PF). Previous investigators have reported the pathogenic association of a genetic predisposition in the development of pemphigus, although familial pemphigus cases have rarely been described 1–14 …”

“…Previous investigators have reported the pathogenic association of a genetic predisposition in the development of pemphigus, although familial pemphigus cases have rarely been described. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] Serological typing of the human leukocyte antigen (HLA) has demonstrated that PV is closely associated with HLA class II alleles such as DR4 (DRB1*0402) and DR14 (DRB1*1401) subtypes, [15][16][17][18] while no single DR4 or DR14 alleles has been associated with sporadic PF. 19 Recent molecular-based genotyping has revealed that the HLA-DRB1*0402 allele is carried by 92% of PV patients among Ashkenazi Jews, 20 85% of non-Jewish Iranian PV patients 21 and 33% of Italian PV patients with PV, 22 while DRB1*1401 has been found in 44% of Japanese PV patients 19 and 44.2% of Italian PV patients.…”

“…Although studies on familial pemphigus may provide further evidence for genetic factors underlying the development of the disease, such cases have rarely been reported, and not completely analyzed in the phenotypes, genotypes and antibody profiles. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] In the present study, we have examined four patients with pemphigus in two unrelated Japanese families, including a mother and daughter with pemphigus in one family, and an elder and younger sister with pemphigus in the other. In addition to HLA genotyping, we studied the clinicopathological findings, and pemphigus antibody profiles.…”