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Article

Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.

The Journal of investigative dermatology - 1 Nov 2016

Hammersen Johanna, Has Cristina, Naumann-Bartsch Nora, Stachel Daniel, Kiritsi Dimitra, Söder Stephan, Tardieu Mathilde, Metzler Markus, Bruckner-Tuderman Leena, Schneider Holm

Abstract excerpt

Severe generalized junctional epidermolysis bullosa, a lethal hereditary blistering disorder, is usually treated by palliative care. Allogeneic stem cell transplantation (SCT) has been proposed as a therapeutic approach, yet without clinical evidence. Decision making was evaluated retrospectively in 76 patients with severe generalized junctional epidermolysis bullosa born in the years 2000-2015. The diagnosis was...

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Identifiers

PMID: 27375110
DOI: 10.1016/j.jid.2016.06.609

Genes

SCT
LAMB3

Variants

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