Article
Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands.
The British journal of dermatology - 1 Dec 2011
Yuen W Y, Lemmink H H, van Dijk-Bos K K, Sinke R J, Jonkman M F
Abstract excerpt
BACKGROUND: Junctional epidermolysis bullosa, type Herlitz (JEB-H) is a lethal, autosomal recessive blistering disease caused by null mutations in the genes coding for the lamina lucida/densa adhesion protein laminin-332 (LAMB3, LAMA3 and LAMC2). OBJECTIVES: To present the diagnostic features and molecular analyses of all 22 patients with JEB-H in the Dutch Epidermolysis Bullosa Registry between 1988 and 2011,...
Topics
- Cell Adhesion Molecules
- Child, Preschool
- DNA Mutational Analysis
- Epidermolysis Bullosa, Junctional
- Female
- Fluorescent Antibody Technique
- Genotype
- Heterozygote
- Humans
- Incidence
- Infant
- Laminin
- Male
- Microscopy, Electron