Epidermolysis bullosa of the Dowling-Meara type: clinical and ultrastructural findings in five patients.
Clinical and pathologic features of five cases of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), are described. Four patients were children, and two were related (father and daughter). Clinical history revealed blistering at birth in three patients; in all of them the signs and symptoms improved with age. Histopathologic and ultrastructural examinations showed cytolysis of the basal cells and clumping of the tonofilaments within the cytoplasm of keratinocytes. Two distinct types of clumps were observed: round (3 patients) and whisklike (2 patients). Two patients had both types of clumps. The presence of both types in the same patient suggests that subtyping of the disease is still premature.
Puddu
P
P
IDI-IRCCS, Rome, Italy.
Angelo
C
C
Faraggiana
T
T
Onetti Muda
A
A
Colonna
L
L
Paradisi
M
M
D002648:Child; D002675:Child, Preschool; D016110:Epidermolysis Bullosa Simplex / Q000175:diagnosis / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D015603:Keratinocytes / Q000648:ultrastructure; D008297:Male; D012867:Skin / Q000648:ultrastructure