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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
Dystrophic EB
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inherited EB was directed toward DEB. In 1969, Eisen postulated that excessive fibroblast
collagenase activity was the underlying cause of subepidermal blister formation and dermal
collagenolysis in patients with DEB. Subsequent in vitro studies in the 1970s by Lazarus
and Bauer and co-workers suggested that this mechanism was correct. The possible
pathogenicity of skin collagenase in RDEB was further supported by the intriguing
observation by Bauer and colleagues in 1980 that the treatment of a series of RDEB
patients with systemic phenytoin led both to a reduction in blister counts and to the
reduced synthesis of collagenase by dermal fibroblasts from these patients. Interest in
collagenase as a primary cause of RDEB waned by the late 1980s as data increasingly
suggested type VII collagen as a more likely primary target. In 1992, Hovnanian and
colleagues provided the final evidence against tissue collagenase being the underlying
basis for RDEB by demonstrating, using molecular techniques, a lack of linkage between the
collagenase gene and the RDEB phenotype. |
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