TY - JOUR
T1 - Severe Infantile Epidermolysis Bullosa Simplex
T2 - Dowling-Meara Type
AU - Buchbinder, Ligaya H.
AU - Lucky, Anne W.
AU - Ballard, Edgar
AU - Stanley, John R.
AU - Stolar, Edward
AU - Tabas, Maxine
AU - Bauer, Eugene A.
AU - Paller, Amy S.
PY - 1986/2
Y1 - 1986/2
N2 - We encountered eight patients with epidermolysis bullosa (EB) simplex of the Dowling-Meara type, who presented in infancy with severe blistering and were originally clinically thought to have recessive dystrophic EB. One infant died in the neonatal period, and the others have had reduced blistering with advancing age. However, in two of the three older patients, the development of severe disabling hyperkeratosis of the palms and soles has been a prominent feature. The correct diagnosis of EB simplex was initially not made in five patients, because, on routine histologic examination, the blister was apparently subepidermal. Electron microscopy confirmed the correct diagnosis of EB simplex by demonstration of basal cell cytolysis. There was clumping of tonofilaments in seven patients. Immunofluorescence demonstrated a cleft above the basal layer in three cases. The findings of severe extensive blistering at birth that improves with age, milia formation, acral distribution with herpetiform groups of blisters in older children, intraoral lesions, absence of scarring, and intraepidermal clefting due to basal cell cytolysis and clumping of tonofilaments within these basal cells as seen on electron microscopic examination present a subtype of EB simplex similar to that described by Dowling and Meara. This has been recognized in the European but not in the American literature and is probably more frequent than has been previously reported.
AB - We encountered eight patients with epidermolysis bullosa (EB) simplex of the Dowling-Meara type, who presented in infancy with severe blistering and were originally clinically thought to have recessive dystrophic EB. One infant died in the neonatal period, and the others have had reduced blistering with advancing age. However, in two of the three older patients, the development of severe disabling hyperkeratosis of the palms and soles has been a prominent feature. The correct diagnosis of EB simplex was initially not made in five patients, because, on routine histologic examination, the blister was apparently subepidermal. Electron microscopy confirmed the correct diagnosis of EB simplex by demonstration of basal cell cytolysis. There was clumping of tonofilaments in seven patients. Immunofluorescence demonstrated a cleft above the basal layer in three cases. The findings of severe extensive blistering at birth that improves with age, milia formation, acral distribution with herpetiform groups of blisters in older children, intraoral lesions, absence of scarring, and intraepidermal clefting due to basal cell cytolysis and clumping of tonofilaments within these basal cells as seen on electron microscopic examination present a subtype of EB simplex similar to that described by Dowling and Meara. This has been recognized in the European but not in the American literature and is probably more frequent than has been previously reported.
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U2 - 10.1001/archderm.1986.01660140080023
DO - 10.1001/archderm.1986.01660140080023
M3 - Article
C2 - 3511860
AN - SCOPUS:84943984730
VL - 122
SP - 190
EP - 198
JO - A. M. A. archives of dermatology and syphilology
JF - A. M. A. archives of dermatology and syphilology
SN - 2168-6068
IS - 2
ER -