Epidermal transglutaminase in the ichthyoses.
Membrane-bound transglutaminase (TGm) is responsible for the cross-linking of proteins to form the cornified envelope. Since abnormalities have been reported in the envelope in certain ichthyoses, we have carried out a survey of TGm concentrations in scales from these disorders. Surprisingly, a striking and specific increase in enzyme activity was found in patients with non-erythrodermic autosomal recessive lamellar ichthyosis. It is not clear how this increase is related to the underlying recessive mutation.
Department of Dermatology, University Hospital, Nijmegen, The Netherlands.
C A
CA
van Hooijdonk
P M
PM
Steijlen
M
M
Bergers
P D
PD
Mier
H
H
Traupe
R
R
Happle
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004817:Epidermis / Q000201:enzymology*; D005260:Female; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000201:enzymology; D007057:Ichthyosis / Q000201:enzymology*; D016112:Ichthyosis Vulgaris / Q000201:enzymology; D016114:Ichthyosis, X-Linked / Q000201:enzymology; D007223:Infant; D008297:Male; D008875:Middle Aged; D011503:Transglutaminases / Q000378:metabolism*
D011503:Transglutaminases