Pemphigus in Families

Abstract

A family in which two sisters are affected by pemphigus is described. Literature research has revealed the presence of 25 families, comprising 53 patients, in which pemphigus existed in more than one member. The relationships between those affected were mainly parent-child or sibling-sibling. Pemphigus was found to be associated with specific HLA antigens: A26, Bw38, DRw4, and additionally occurred with a higher frequency in certain ethnic groups. The variety of etiologic factors in the pathogenesis of pemphigus is discussed and the significance of a genetic role elucidated.

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 .…”

“…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.…”

Simultaneous Onset of Pemphigus Vulgaris in Two Turkish Siblings

“…However, HLA Class II alleles have been more important in disease associations, in most autoimmune disorders recently. Pemphigus, an autoimmune disease, seems to be associated with HLA DRB1*04 (2, 9, 10), and it has also shown an association in FP as well as the DQB1*03 allele (5, 7, 10, 11, 13, 14). Our two cases also had these two alleles.…”

“…The comment for this condition could be as follows: many unknown addional factors may contribute to the occurrence of PV. Probably, endogenous genetic autoimmune factors do not become evident until they are activated by an exogenous initiating stimulus, namely a suspected drug, infection or trauma (11–13). Another important feature of pemphigus is the increasing incidence after middle age.…”