Herlitz junctional epidermolysis bullosa.
Junctional epidermolysis bullosa type Herlitz (JEB-H) is the autosomal recessively inherited, more severe variant of "lucidolytic" JEB. Characterized by generalized, extensive mucocutaneous blistering at birth and early lethality, this devastating condition is most often caused by homozygous null mutations in the genes LAMA3, LAMB3, or LAMC2, each encoding for 1 of the 3 chains of the heterotrimer laminin-332. The JEB-H subtype usually presents as a severe and clinically diverse variant of the EB group of mechanobullous genodermatoses. This article outlines the epidemiology, presentation, and diagnosis of JEB-H. Morbidity and mortality are high, necessitating optimized protocols for early (including prenatal) diagnosis and palliative care. Gene therapy remains the most promising perspective.
Laimer
Martin
M
Division of Molecular Dermatology, Department of Dermatology, General Hospital Salzburg, Paracelsus Medical University Salzburg, Muellner Hauptstrasse 48, A-5020 Salzburg, Austria. m.laimer@salk.at
Lanschuetzer
Christoph M
CM
Diem
Anja
A
Bauer
Johann W
JW
D015815:Cell Adhesion Molecules / Q000235:genetics; D016109:Epidermolysis Bullosa, Junctional / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007797:Laminin / Q000235:genetics*; D012867:Skin / Q000473:pathology; D000097794:Kalinin
D015815:Cell Adhesion Molecules; D007797:Laminin; D000097794:Kalinin; C400567:LAMC2 protein, human; C095567:laminin alpha 3