Epidermolysis bullosa hereditaria letalis in northern Sweden

The genetics of epidermolysis bullosa letalis was studied in a family material from northern Sweden comprising 13 patients in 10 different sibships. No relationships with sex or birth rank were found. The maternal age was significantly higher than in the population. The family data were consistent with an autosomal recessive mode of inheritance. Carriers of the gene were found scattered along the coastal area of northern Sweden. The estimated incidence at birth was 17 times 10-5, which is higher than in previous investigations from southern Sweden and Norway. Genealogical studies showed that most of the patients had common ancestors 12–15 generations ago. Most cases of epidermolysis bullosa hereditaria letalis in northern Sweden may therefore be homozygous for one and the same gene originating in one particular parish in the county of Västerbotten in northern Sweden.