Glycosaminoglycans production by cultured skin fibroblasts from the Pasini and Cockayne-Touraine forms of dominant dystrophic epidermolysis bullosa.
Qualitative and quantitative comparisons of glycosaminoglycans e (GAG) production were made on fibroblast lines cultured from the skin of six patients with the Pasini (albopapuloid) form of dominant dystrophic epidermolysis bullosa, six with the non-albopapuloid form (Cockayne-Touraine), eight lines from patients with simplex or recessive dystrophic epidermolysis bullosa and eight lines from normal individuals. A reasonable match of donor age and gender, site, and passage number was achieved. Contrary to an earlier report, the lines from the Pasini group were unexceptional in the amount of GAG they secreted and the proportions of sulfated and nonsulfated GAG showed no consistent difference from the Cockayne-Touraine or control lines. The Pasini lines secreted 77 +/- 18 (SEM) microgram GAG-uronic acid per 10(7) cells and the Cockayne-Touraine lines 81 +/- 12 micrograms at equivalent cells densities. Sulfated GAG represented averages of 19 +/- 4+ in Pasini lines, 17 +/- 5% in Cockayne-Touraine, and 14 +/- 3% in controls. These findings are consistent with current views of albopapuloid lesions as an unreliable clinical sign in epidermolysis bullosa and bring into question the validity of the Pasini entity.
Priestley
G C
GC
Department of Dermatology, University of Edinburgh, Royal Infirmary, Scotland.
D000293:Adolescent; D000328:Adult; D002455:Cell Division; D002460:Cell Line; D002478:Cells, Cultured; D046508:Culture Techniques / Q000379:methods; D016108:Epidermolysis Bullosa Dystrophica / Q000145:classification / Q000235:genetics / Q000378:metabolism*; D005347:Fibroblasts / Q000166:cytology / Q000378:metabolism; D005799:Genes, Dominant; D005808:Genes, Recessive; D006025:Glycosaminoglycans / Q000096:biosynthesis* / Q000302:isolation & purification; D006801:Humans; D012016:Reference Values; D012867:Skin / Q000378:metabolism*
D006025:Glycosaminoglycans