| Title | A disease with features of cutis laxa and Ehlers-Danlos syndrome. Report of a mother and daughter. | | Author(s) | Tsukahara M, Shinkai H, Asagami C, Eguchi T, Kajii T | | Institution | Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan. | | Source | Hum Genet 1988 Jan; 78(1):9-12. | | MeSH | Adult
Child
Collagen
Cutis Laxa
Ehlers-Danlos Syndrome
Electrophoresis, Polyacrylamide Gel
Female
Genes, Dominant
Humans
Male
Pedigree
Skin
| | Abstract | A mother and daughter are described with light and electron microscopic, and biochemical abnormalities of their connective tissue characteristic of both cutis laxa and the Ehlers-Danlos syndrome. The mother was clinically normal, while her 8-year-old daughter exhibited loose, wrinkled skin and other clinical features of cutis laxa, and also fragility, bruisability and hyper-extensibility of the skin and poor healing of wounds, leaving "cigarette paper" scars, features characteristic of the Ehlers-Danlos syndrome. Light and electron microscopic studies of skin biopsy specimens and cultured skin fibroblasts from both individuals revealed reduced and distorted elastic fibres, a finding usually seen in cutis laxa. Electrophoretic studies of collagen excreted from cultured skin fibroblasts revealed in both individuals an alpha 2(I) chain with a molecular size smaller than usual. The father and elder daughter were normal by clinical, light and electron microscopic and electrophoretic studies. It was concluded from these findings that the mother and daughter represented a hitherto undescribed disease of the connective tissue with dominant inheritance and variable expressivity. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
| | PubMed ID | 3338795 |
|
