By Disease Name > Epidermolysis Bullosa > Dystrophic Epidermolysis Bullosa

Dystrophic Epidermolysis Bullosa

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•cleavage beneath the lamina densa
•characterized by scarring, nail changes, and milia
•electron microscope:
•recessive dystrophic EB – complete absence of anchoring fibrils
•dominant dystrophic EB – reduced number and/or abnormal in appearance

 

autosomal recessive (Hallopeau-Siemens)

•etiology = type VII collagen (anchoring fibrils)  (same as epidermolysis bullosa acquisita)
•onset at birth
•large bullae heal with atrophic scars and milia:  pseudo-webbing = “mitten hands”
•mucous membranes often involved (may lead to esophageal stricture formation;  any epithelial lined organ)
•corneal erosions, cicatricial alopecia

 

autosomal dominant (Cockayne-Touraine)