ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genitourinary Involvement.

The article presents the case of a 24-month-old Chinese Han male who has suffered mechanically induced blistering, nail dystrophy and dysuria during his first 12 months. Based on transmission electron microscope examination, he showed hypoplastic, reduced hemidesmosomes (HD). He was eventually diagnosed with junctional epidermolysis bullosa (JEB), which is an autosomal recessive, clinically and genetically heterogeneous disorder.