Junctional epidermolysis bullosa: diagnosis and management of a patient with the Herlitz variant.
A case of Herlitz-type epidermolysis bullosa (EB) is reported. The baby was born after a normal, full-term pregnancy with blisters on his extremities. Over the next several months, progressive skin sloughing involving 95% of his body surface area developed, including gastrointestinal, laryngeal, tracheobronchial, and corneal involvement. The diagnosis of junctional EB, Herlitz type, was made using clinical, electron microscopic, and immunohistochemical criteria. Despite meticulous wound care, aggressive nutritional support, and continuous antimicrobial therapy, the baby died at 9 months of age. This report discusses the presentation, complications, and management of this unusual and tragic disease.
Goldstein
A M
AM
Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Davenport
T
T
Sheridan
R L
RL
D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D018450:Disease Progression; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018529:Nutritional Support
D000900:Anti-Bacterial Agents