Genetics of Hailey-Hailey familial chronic benign pemphigus

Starting from 12 index patients with familial benign chronic pemphigus from 11 kindreds, systematic kindred examinations were carried out with 182 relatives. 11 pedigrees were established. In this process 6 patients out of 3 kindreds were identified additionally. 10 genotypic carriers of the disease were found of 30 examined relatives by a newly developed UV-provocation test. An autosomal-dominant hereditary pattern was proven for sure and with high probability, respectively, in 10 out of 11 kindreds by formal genetic genealogy-examinations. There was an incomplete penetrance in 3 kindreds. A sex-determined heredity of disease can be excluded. There was no association between familial benign chronic pemphigus and HLA-A, B, C-system.