Treatment of two patients with Herlitz junctional epidermolysis bullosa with artificial skin bioequivalents.
OBJECTIVE
To evaluate the effects of a treatment with artificial skin bioequivalents in Herlitz junctional epidermolysis bullosa (H-JEB).


METHODS
Two infants, both homozygous for the Herlitz mutation R635X in the LAMB3 gene, who had refractory anemia and hypoproteinemia as a result of a continuous loss of body fluids through multiple large erosions, were treated with artificial skin bioequivalents.


RESULTS
In the first patient, 10 of 13 acute or chronic wounds were found healed 3 to 6 weeks after the treatment, and the protein, iron, and hemoglobin levels normalized. Normal weight gain and marked improvement of the quality of life for this patient's family have been evident since. Nine treated wounds remained healed for at least 18 weeks and appeared to be more resistant to trauma. In a skin biopsy from a treated site obtained after 9 weeks, DNA of the graft was still detectable by polymerase chain reaction. In the second patient, who was treated at a late stage of the disease, only 2 of 18 chronic wounds were found healed at 3 weeks after the treatment. One site remained healed completely, and some additional islets of the grafts persisted for longer. There were no adverse events.


CONCLUSIONS
Early treatment with artificial skin substitutes may improve the clinical course of H-JEB. However, a true cure of the cutaneous manifestations of H-JEB would require gene therapy of autologous epidermal stem cells, which could then be transplanted by using this or a similar cultured skin bioequivalent.
Jiang
Qiu-Jie
QJ
Children's Hospital and Department of Experimental Medicine, Nikolaus-Fiebiger-Center for Molecular Medicine, University of Erlangen-Nuernberg, Germany.
Izakovic
Jan
J
Zenker
Martin
M
Fartasch
Manige
M
Meneguzzi
Guerrino
G
Rascher
Wolfgang
W
Schneider
Holm
H
D001706:Biopsy; D015815:Cell Adhesion Molecules / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D005091:Exons / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007229:Infant Welfare; D009154:Mutation / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics; D011788:Quality of Life; D017422:Sequence Analysis, DNA; D012867:Skin / Q000473:pathology; D016038:Skin Transplantation; D017768:Skin, Artificial; D013810:Therapeutic Equivalency; D016896:Treatment Outcome; D014945:Wound Healing; D000097794:Kalinin
D015815:Cell Adhesion Molecules; D000097794:Kalinin