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epidermolysis bullosa, junctional, Herlitz type
a group of blistering skin diseases
Pathology:
- tissue separation occurs within the dermo-epidermal basement membrane
Genetics:
- associated with defects in LAMA3 & LAMB3
- spontaneous reversion to normal phenotype by spontaneous correcting mutation reported [2]
- mutations found in COL17A1 gene
Clinical manifestations:
- severe, infantile & lethal form of epidermolysis bullosa
- death generally occurs within the first 6 months of life
- occasionally, children survive to teens
- marked by bullous lesions at birth
- extensive denudation of skin & mucous membranes that may be hemorrhagic
Laboratory:
- LAMA3 gene mutation
- LAMB3 gene mutation
Related
collagen 17 alpha-1; bullous pemphigoid antigen 2 (COL17A1, BPAG2, BP180)
General
epidermolysis bullosa, junctional
Database Correlations
OMIM correlations
References
- UniProt :accession Q16787
- Pasmooij AM, Pas HH, Bolling MC, Jonkman MF.
Revertant mosaicism in junctional epidermolysis bullosa due
to multiple correcting second-site mutations in LAMB3.
J Clin Invest. 2007 May;117(5):1240-8.
PMID: 17476356