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)