Glycosaminoglycan alteration in the skin of children with classical Ehlers-Danlos syndrome.
Three children with classical Ehlers-Danlos syndrome were studied. Electron microscopic observation of the skin demonstrated a hyaluronic acid-dominant glycosaminoglycan structure in the intercellular matrix. Biochemical analysis showed a significant increase in hyaluronic acid content, as compared with the skin of sex- and age-matched children, including a non-affected brother of a patient. In addition, enhanced hyaluronic acid synthesis was demonstrated in vitro, using a patient's dermal fibroblasts. Analysis of the collagen showed no apparent abnormalities.
A
A
Yamakage
Y
Y
Uchiyama
Y
Y
Nihei
H
H
Ishikawa
D002648:Child; D002675:Child, Preschool; D003094:Collagen / Q000378:metabolism; D003871:Dermatan Sulfate / Q000096:biosynthesis; D004535:Ehlers-Danlos Syndrome / Q000378:metabolism* / Q000473:pathology; D005347:Fibroblasts / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism*; D006651:Histocytochemistry; D006801:Humans; D006820:Hyaluronic Acid / Q000096:biosynthesis; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000378:metabolism* / Q000648:ultrastructure
D006025:Glycosaminoglycans; D003871:Dermatan Sulfate; D006820:Hyaluronic Acid; D003094:Collagen