Search
epidermolysis bullosa, junctional
Blistering occurs at junction of dermis & epidermis.
Genetics:
1) mutations in laminin-5 gene (LAMC2)
2) mutations in LAMB3 (see Herlitz type)
3) mutation in COL17A1 gene (see Herlitz type)
Clinical manifestations:
- variable
- non-lethal, adult form of junctional epidermolysis bullosa characterized by life-long blistering of the skin, associated with hair & tooth abnormalities
Laboratory:
- LAMC2 gene mutation
Management:
- stem cell therapy may generate normal skin in patients with mutation in laminin-5 gene [2]
Specific
epidermolysis bullosa, junctional, Herlitz type
General
epidermolysis bullosa
genetic disease of the skin (genodermatosis)
Database Correlations
OMIM 226650
References
- Harrison's Principles of Internal Medicine, 14th ed.,
Fauci et al eds., 1998, p2193-4
- Mavilo F et al,
Correction of junctional epidermolysis bullosa by transplantation
of genetically modified epidermal stem cells,
Nat Med 2006, 12:1397
PMID: 17115047