Article
Dermatosparaxis in children. A case report and review of the newly recognized phenotype.
Archives of dermatology - 1 Oct 1993
Petty E M, Seashore M R, Braverman I M, Spiesel S Z, Smith L T, Milstone L M
Abstract excerpt
BACKGROUND: Dermatosparaxis is an autosomal recessive connective tissue disorder in animals that is caused by abnormal processing of type I procollagen and results in skin laxity and fragility. Only three humans with characteristic biochemical and electronmicroscopic findings have been recognized...
Topics
- Abnormalities, Multiple
- Collagen
- Ehlers-Danlos Syndrome
- Humans
- Infant
- Male
- Phenotype
- Skin
- Skin Diseases