Pretibial epidermolysis bullosa.
A 47-year-old Vietnamese woman presented with dystrophic fingernails and toenails that had been present since infancy. She also had developed, in the third decade, pretibial pruritus with vesicle formation and progressive localized papules and scars. Multiple family members were similarly affected. Physical examination showed lichenoid papules that coalesced into large plaques that were studded with milia over the pretibial areas and 20 nail dystrophy. A biopsy specimen showed milia-like structures and dermal fibrosis. Pretibial epidermolysis bullosa is a rare variant of dystrophic epidermolysis bullosa that shows appreciable clinical overlap with dystrophic epidermolysis bullosa pruginosa. Both disease subsets are characterized by the late age of onset, nail dystrophy, and predominantly pretibial pruritic lichenoid skin lesion; they are associated with glycine substitution mutations in COL7A1.
Rizzo
Carina
C
Department of Dermatology, New York University, USA.
Anandasabapathy
Niroshana
N
Walters
Ruth F
RF
Rosenman
Karla
K
Kamino
Hideko
H
Prystowsky
Steven
S
Schaffer
Julie V
JV
D024143:Collagen Type VII / Q000172:deficiency / Q000235:genetics; D003951:Diagnostic Errors; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007866:Leg; D008010:Lichen Planus / Q000175:diagnosis; D008875:Middle Aged; D009264:Nails, Malformed / Q000209:etiology
D024143:Collagen Type VII