Pretibial epidermolysis bullosa: is this case a new subtype with loss of types IV and VII collagen?

• Published in: International journal of dermatology Vol. 48; no. 8; pp. 879 - 881
• Main Authors: Lee, Hong‐sun, Park, Kun, Son, Sook‐ja, Song, Kye‐yong, Kim, Seong Eon
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.08.2009; Blackwell
• Subjects: Biological and medical sciences; Biopsy; Bullous diseases of the skin; Collagen Type IV - genetics; Collagen Type IV - metabolism; Collagen Type VII - genetics; Collagen Type VII - metabolism; Dermatology; Epidermolysis Bullosa - classification; Epidermolysis Bullosa - genetics; Epidermolysis Bullosa - pathology; Fluorescent Antibody Technique, Direct; Humans; Male; Medical sciences; Microscopy, Electron, Transmission; Nails - pathology; Skin - pathology; Skin - ultrastructure; Tibia; Young Adult; Bullous dermatosis; Immunopathology; Skin disease; Microbiological investigation; Typing; Epidermolysis bullosa; Dermatology; Collagen; Autoimmune disease; Subtype
• ISSN: 0011-9059; 1365-4632
• DOI: 10.1111/j.1365-4632.2008.03983.x

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.