Herlitz junctional epidermolysis bullosa.

[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 LAMA 3 , LAMB 3 , or LAMC 2 , 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 .

Diseases
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Diseases presenting "clinically diverse variant" symptom

junctional epidermolysis bullosa

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