• | blister formation within the lamina lucida (laminin 5 defect) |
Lethal junctional eb: (Herlitz)
• | generalized blistering and erosions at birth; most severe form of JEB |
• | pathognomonic clinical finding = thickened areas of exuberant granulation tissue (especially around mouth and nostrils, posterior neck) |
• | nails are involved and eventually shed |
• | oral mucosa often involved; any epithelial lined organ may be affected (mouth, esophagus, small intestine) |
• | eroded areas slow to heal; atrophic scars but no milia |
• | many infants die early with overwhelming infection |
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