Congenital cutis laxa with a dominant inheritance and early onset emphysema

Abstract

Two cases (mother and daughter) are reported of autosomal dominant cutis laxa which are unusual in being associated with early onset emphysema. Both mother and daughter have been smokers and are heterozygotes for the α1 antitrypsin genotype. The combination of cigarette smoking and subnormal α1 antitrypsin levels may explain the pulmonary spread in these two women who have what is usually a benign form of cutis laxa limited to the skin.