epidermolysis bullosa, junctional
Jump to navigation
Jump to search
Introduction
Blistering occurs at junction of dermis & epidermis.
Genetics
- mutations in laminin-5 gene (LAMC2)
- mutations in LAMB3 (see Herlitz type)
- 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
Management
- stem cell therapy may generate normal skin in patients with mutation in laminin-5 gene[2]
More general terms
More specific terms
References
- ↑ Harrison's Principles of Internal Medicine, 14th ed., Fauci et al eds., 1998, p2193-4
- ↑ 2.0 2.1 Mavilo F et al, Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells, Nat Med 2006, 12:1397 PMID: https://www.ncbi.nlm.nih.gov/pubmed/17115047