title: 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 alpha 1 antitrypsin genotype. The combination of cigarette smoking and subnormal alpha 1 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.
authors.affiliation: Harefield Hospital, Middlesex.
authors.forename: E
authors.initials: E
authors.lastname: Corbett
authors.forename: H
authors.initials: H
authors.lastname: Glaisyer
authors.forename: C
authors.initials: C
authors.lastname: Chan
authors.forename: B
authors.initials: B
authors.lastname: Madden
authors.forename: A
authors.initials: A
authors.lastname: Khaghani
authors.forename: M
authors.initials: M
authors.lastname: Yacoub
mesh_terms: D000328:Adult; D003483:Cutis Laxa / Q000150:complications / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008168:Lung / Q000000981:diagnostic imaging; D008875:Middle Aged; D011656:Pulmonary Emphysema / Q000150:complications*; D011859:Radiography