Pediatric Epidermolysis Bullosa

  • Etiology: Genetic condition characterized by blistering of the skin
  • Imaging Gastrointestinal:
    — Limited to muscosa of gastrointestinal tract and primarily the esophagus
    — Acutely see submucosal bullae and chronically see esophageal webs
  • Imaging Genitourinary:
    — Scarring of glans penis or vaginal vestibule with associated urethral strictures can cause urinary tract outflow obstruction and hydroureteronephrosis
  • Imaging Musculoskeletal:
    — Blistering and scarring of skin can case fusion of fingers and toes
    — Contractures of multiple joints
    — Acro-osteolysis
  • DDX:
  • Complications:
  • Treatment:
  • Clinical: Can be limited to palms of hands and soles of feet or can involve whole body

Radiology Cases of Epidermolysis Bullosa

Esophagram showing esophageal stricture due to epidermolysis bullosa
AP (left) and lateral (right) images from an esophagram show a persistent long narrowing in the mid esophagus.