junctional epidermolysis bullosa with pyloric atresia

info · Genetic · ICD-10: Q81.8

A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes.

Signs and symptoms

Congenital pyloric atresia
Lamina lucida cleavage
Urethrovesical occlusion
Abnormal blistering of the skin
Aplasia cutis congenita on trunk or limbs
Oral mucosal blisters
Hypoplastic dermoepidermal hemidesmosomes
Milia
Polyhydramnios
Esophageal atresia

Also known as: Carmi syndrome; JEB-PA; epidermolysis bullosa junctionalis with pyloric atresia; junctional epidermolysis bullosa-pyloric atresia syndrome