Ehlers-Danlos syndrome type VIII: biochemical, stereological and immunocytochemical studies on dermis from a child with clinical signs of Ehlers-Danlos syndrome and a family history of premature loss of permanent teeth.
We studied collagen expressed by skin fibroblasts in culture, and performed immunocytochemical, ultrastructural and stereological analysis of dermis from a child with signs reminiscent of a mild Ehlers-Danlos syndrome (EDS) type IV and severe periodontitis. No alterations in types I and III [corrected] collagen synthesis and secretion, or serum levels of type III procollagen aminoterminal propeptide were found, and morphological studies revealed non-specific alterations of collagen and elastic components observed in many connective tissue disorders.
Department of Biochemistry, University of Pavia, Italy.
K M
KM
Dyne
L
L
Vitellaro-Zuccarello
L
L
Bacchella
G
G
Lanzi
G
G
Cetta
D016301:Alveolar Bone Loss / Q000150:complications; D002648:Child; D003094:Collagen / Q000096:biosynthesis; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D005190:Family; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D010375:Pedigree; D010518:Periodontitis / Q000150:complications; D011347:Procollagen / Q000096:biosynthesis; D012867:Skin / Q000648:ultrastructure; D016388:Tooth Loss / Q000209:etiology
D011347:Procollagen; D003094:Collagen