CONGENITAL CUTIS LAXA WITH A DOMINANT INHERITANCE AND EARLY-ONSET EMPHYSEMA

被引：26

作者：

CORBETT, E ^{[1
]}

GLAISYER, H ^{[1
]}

CHAN, C ^{[1
]}

MADDEN, B ^{[1
]}

KHAGHANI, A ^{[1
]}

YACOUB, M ^{[1
]}

机构：

[1] HAREFIELD HOSP,HAREFIELD WB9 6JH,MIDDX,ENGLAND

来源：

THORAX | 1994年 / 49卷 / 08期

关键词：

D O I：

10.1136/thx.49.8.836

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

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.

引用

页码：836 / 837

页数：2

共 8 条

[1]

ALLANSON J, 1986, CLIN GENET, V29, P133

[2] DOMINANT AND RECESSIVE FORMS CUTIS LAXA [J].