Pretibial epidermolysis bullosa: is this case a new subtype with loss of types IV and VII collagen?
Pretibial epidermolysis bullosa (PEB) is an extremely rare subtype of dominant dystrophic epidermolysis bullosa (DDEB), in which recurrent blistering with scarring predominantly involves the pretibial skin. Nail dystrophy, albopapuloid lesions, and hypertrophic scars may also occur. In PEB, immunohistochemical and electron microscopic studies demonstrate the complete or partial loss of the anchoring fibril (AF) in the basement membrane zone, suggesting disturbed synthesis or excessive degradation of collagen VII, the main component of AF. Interestingly, we report a case of PEB with unusual results of joint loss of types IV and VII collagen.
Lee
Hong-sun
HS
Department of Dermatology, College of Medicine, Eulji University, Seoul, South Korea.
Park
Kun
K
Son
Sook-ja
SJ
Song
Kye-yong
KY
Kim
Seong Eon
SE
D001706:Biopsy; D024141:Collagen Type IV / Q000235:genetics* / Q000378:metabolism; D024143:Collagen Type VII / Q000235:genetics* / Q000378:metabolism; D004820:Epidermolysis Bullosa / Q000145:classification / Q000235:genetics / Q000473:pathology; D019085:Fluorescent Antibody Technique, Direct; D006801:Humans; D008297:Male; D046529:Microscopy, Electron, Transmission; D009262:Nails / Q000473:pathology; D012867:Skin / Q000473:pathology / Q000648:ultrastructure; D013977:Tibia; D055815:Young Adult
D024141:Collagen Type IV; D024143:Collagen Type VII