Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression.
Clinical features and histological findings in two sibs who died from restrictive dermopathy in the neonatal period are described. Fibroblasts cultured from a skin biopsy from the second sib and fibroblasts from normal neonatal skin were studied using monoclonal antibodies to visualise integrin subunits by immunocytochemistry. Restrictive dermopathy fibroblasts displayed increased expression of the alpha-1 and alpha-2 subunits of integrin, those responsible for collagen binding. The increase was not matrix dependent. Integrins may play an important role in tissue differentiation, and our findings support the hypothesis that restrictive dermopathy is a disorder of skin differentiation.
Dean
J C
JC
Department of Medical Genetics, University of Aberdeen Medical School, UK.
Gray
E S
ES
Stewart
K N
KN
Brown
T
T
Lloyd
D J
DJ
Smith
N C
NC
Pope
F M
FM
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D000911:Antibodies, Monoclonal; D002448:Cell Adhesion; D002454:Cell Differentiation; D002478:Cells, Cultured; D003094:Collagen / Q000032:analysis / Q000378:metabolism; D005260:Female; D005315:Fetal Diseases / Q000235:genetics / Q000276:immunology / Q000473:pathology; D005347:Fibroblasts / Q000276:immunology / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D016023:Integrins / Q000032:analysis* / Q000235:genetics; D007797:Laminin / Q000378:metabolism; D008297:Male; D012867:Skin / Q000276:immunology / Q000473:pathology*; D012868:Skin Abnormalities; D012871:Skin Diseases / Q000235:genetics* / Q000276:immunology / Q000473:pathology
D000911:Antibodies, Monoclonal; D016023:Integrins; D007797:Laminin; D003094:Collagen