ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges

MeSH terms

• Epidermolysis Bullosa*
• Epidermolysis Bullosa, Junctional* / diagnosis
• Epidermolysis Bullosa, Junctional* / genetics
• Epidermolysis Bullosa, Junctional* / therapy
• Gastric Outlet Obstruction*
• Humans
• Integrin beta4 / genetics
• Pylorus / abnormalities
• Skin