Mucopolysacchariduria in genetic dermatoses: hereditary epidermolysis bullosa, congenital ichthyosis and ectodermal dysplasia
László, A.; Havass, Z.
Zeitschrift für Hautkrankheiten 60(3): 254-256
1985
ISSN/ISBN: 0301-0481 PMID: 3993142 Document Number: 262425
4 patients suffering from epidermolysis bullosa, 11 persons with genetically determined ichthyosis, as well as 3 cases of x-linked recessive ectodermal dysplasia were investigated with regard to glycosaminoglycane(GAG)uria; the GAG fractions were analysed by means of GAG thin-layer chromatography. All three groups of patients showed increased GAG-uria. The GAG fractions proved to be chondroitin-6-sulphate, chondroitin-4-sulphate, and heparan-sulphate. The pathomechanism of the increased GAG-uria is supposed to be an increased GAG degradation process.