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Inherited Epidermolysis
Bullosa
Jo-David Fine, M.D.,
M.P.H., Eugene A. Bauer, M.D.,
and Tobias Gedde-Dahl Jr., M.D.
Edited by
Jo-David Fine, M.D., M.P.H., Eugene A. Bauer, M.D. Joseph McGuire, M.D. Alan
Moshell, M.D.
Published in 1999 by The Johns Hopkins University Press. ISBN
0-8018-6024-5
DebRA is grateful to the authors and publishers
for permission to reproduce extracts from this book to make information more widely
available to professionals families and carers.
DIAGNOSTIC TESTS
Ultrastructure |
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| In 1961, Pearson applied transmission
electron microscopy to the study of the skin basement membrane zone and subsequently
demonstrated that inherited EB could be separated into three major groups, based on the
ultra- structural level of skin cleavage present in spontaneous and trauma-induced
blisters. Over the next two decades a number of other investigators, most notably
Schnyder, Anton-Lamprecht, Hashimoto, and their colleagues, contributed greatly to the
description of the ultrastructural morphologic features present in skin of patients having
specific subtypes of simplex, junctional, and dystrophic EB. These included
abnormalities in the appearance and number of anchoring fibrils and hemidesmosomes in DEB
and JEB, respectively, and the presence of clumped tonofilaments in basilar keratinocytes
in Dowling-Meara EBS. In 1984, Tidman and Eady applied a rigorous
photomicrographic, ultrastructural, morphometric approach to the semiquantitation of
anchoring fibrils, hemidesmosomes, and subbasal dense plates in normal human skin and
subsequently confirmed the presence of quantitative differences in the density of specific
ultrastructures along the dermoepidermal junction in selected subtypes of inherited EB.
These semi-quantitative differences in anchoring fibril counts were more recently
correlated with the relative expression of type VII collagen by McGrath and colleagues in
1993. In 1985, Hashimoto identified and defined a uniquely self-limited type of DEB, for
which he coined the name transient bullous dermolysis of the newborn, by the
presence of electron-dense, perinuclear, stellate bodies in basilar keratinocytes. Fine
and colleagues subsequently demonstrated these stellate bodies to be intracytoplasmic
collections of type VII collagen and showed a normal reversion to linear type VII collagen
in the dermoepidermal junction in the skin from these patients after the cessation of
clinical disease activity. |
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