Corbett E, Glaisyer H, Chan C, Madden B, Khaghani A, Yacoub M
Harefield Hospital, Middlesex.
Thorax. 1994 Aug;49(8):836-7. doi: 10.1136/thx.49.8.836.
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.
报告了两例（母女）常染色体显性遗传性皮肤松弛症，其不同寻常之处在于与早发性肺气肿相关。母亲和女儿均为吸烟者，且都是α1抗胰蛋白酶基因型的杂合子。吸烟与α1抗胰蛋白酶水平低于正常可能解释了这两名女性的肺部病变，她们患的通常是一种仅限于皮肤的良性皮肤松弛症。
