A case of congenital pyloric atresia with dystrophic epidermolysis bullosa.
Pyloric atresia with epidermolysis bullosa (EB) dystrophica is a rare entity that may not be immediately recognized. We describe the fourth confirmed case of pyloric atresia associated with the dystrophic subtype of EB diagnosed by standard pathologic measures, and discuss the clinical disease features and recent advances in the pathophysiology.
Department of Pediatric Surgery, Children's Hospital Los Angeles, 4650 Sunset Blvd. MT#100, Los Angeles, CA, 90027, USA.
Scott S
SS
Short
Christa N
CN
Grant
Demetri
D
Merianos
Dana
D
Haydel
Henri R
HR
Ford
D001706:Biopsy; D003937:Diagnosis, Differential; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis* / Q000503:physiopathology; D017809:Fatal Outcome; D005260:Female; D017219:Gastric Outlet Obstruction / Q000151:congenital* / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D011708:Pylorus / Q000002:abnormalities* / Q000503:physiopathology