HLA antigens in bullous epidermolysis, congenital ichthyosis and ectodermal dysplasia.

Abstract

HLA-ABC antigen typing was carried out in 4 homozygous patients and 10 family members from three families with bullous epidermolysis, 7 homozygous patients and 19 family members of six families with ichthyosis, and 4 homozygous patients and 8 family members of 4 families with ectodermal dysplasia. The type of heredity was established on the basis of genetical evidence and the clinical picture. In bullous epidermolysis cases autosomal recessive heredity was detected in two families with congenital bullous epidermolysis, and autosomal heredity in two families with dystrophic bullous epidermolysis. The HLA-Aw 24, B5 combination, which was thought to be significant in epidermolysis bullosa, was found in one, B5 alone in two, out of the four families. In congenital ichthyosis autosomal recessive heredity was detected in two families out of five. In one, X-linked recessive heredity was found, and in two families X-linked recessive heredity could be supposed. In three families out of the five with congenital ichthyosis, the A2, B18 antigen combination was found. In a family where two infants died from the most severe form of ichthyosis, epidermolysis and psoriasis also occurred. In this family two grandfathers were brothers, and one of the two was a carrier of the Aw24, B5 combination. In the case of ectodermal dysplasia, in one out of four families X-linked recessive heredity, in another autosomal recessive heredity was detected. In two families X-linked recessive heredity could be supposed as only the male children were affected and also on the basis of data in the literature. The HLA-A26, B38 antigen combination occurred in three of these four families.