epidermolysis bullosa simplex
Types
KRT14-associated epidermolysis bullosa simplex
- Koebner type epidermolysis bullosa simplex (MIM.131900)
- Dowling-Meara type epidermolysis bullosa simplex (MIM.131760)
- recessive epidermolysis bullosa simplex
- Weber-Cockayne type epidermolysis bullosa simplex (MIM.131800)
References
Schroder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Furst DO, Blumcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A. Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol. 2002 Jun;61(6):520-30. PMID: 12071635
Fuchs E, Coulombe P, Cheng J, Chan YM, Hutton E, Syder A, Degenstein L, Yu QC, Letai A, Vassar R. Genetic bases of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. J Invest Dermatol. 1994 Nov;103(5 Suppl):25S-30S. PMID: 7525738
Eady RA, Dunnill MG. Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology. Arch Dermatol Res. 1994;287(1):2-9. PMID: 7537032