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.
Full text
PDFImages in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Allanson J., Austin W., Hecht F. Congenital cutis laxa with retardation of growth and motor development: a recessive disorder of connective tissue with male lethality. Clin Genet. 1986 Feb;29(2):133–136. doi: 10.1111/j.1399-0004.1986.tb01236.x. [DOI] [PubMed] [Google Scholar]
- Beighton P. The dominant and recessive forms of cutis laxa. J Med Genet. 1972 Jun;9(2):216–221. doi: 10.1136/jmg.9.2.216. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Byers P. H., Siegel R. C., Holbrook K. A., Narayanan A. S., Bornstein P., Hall J. G. X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med. 1980 Jul 10;303(2):61–65. doi: 10.1056/NEJM198007103030201. [DOI] [PubMed] [Google Scholar]
- CHRISTIAENS L., MARCHAND-ALPHANT A., FOVET A. Emphysème congénital et cutix laxa. Presse Med. 1954 Dec 25;62(86):1799–1801. [PubMed] [Google Scholar]
- Goltz R. W., Hult A. M., Goldfarb M., Gorlin R. J. Cutis laxa. A manifestation of generalized elastolysis. Arch Dermatol. 1965 Oct;92(4):373–387. doi: 10.1001/archderm.92.4.373. [DOI] [PubMed] [Google Scholar]
- Nanko H., Jepsen L. V., Zachariae H., Søgaard H. Acquired cutis laxa (generalized elastolysis): light and electron microscopic studies. Acta Derm Venereol. 1979;59(4):315–324. [PubMed] [Google Scholar]
- Turner-Stokes L., Turton C., Pope F. M., Green M. Emphysema and cutis laxa. Thorax. 1983 Oct;38(10):790–792. doi: 10.1136/thx.38.10.790. [DOI] [PMC free article] [PubMed] [Google Scholar]