Classification of classical epidermolysis bullosa

Level of skin cleavage	Epidermolysis bullosa type	Inheritance	Mutated gene(s)	Targeted protein(s)
Intraepidermal	Epidermolysis bullosa simplex	Autosomal dominant	KRT5, KRT14	Keratin 5, keratin 14
			PLEC	Plectin
			KLHL24	Kelch-like member 24
		Autosomal recessive	KRT5, KRT14	Keratin 5, keratin 14
			DST	Bullous pemphigoid antigen 230 (BP230) (syn. BPAG1e, dystonin)
			EXPH5 (syn. SLAC2B)	Exophilin-5 (syn. synaptotagmin-like protein homolog lacking C2 domains b, Slac2-b)
			PLEC	Plectin
			CD151 (syn. TSPAN24)	CD151 antigen (syn. tetraspanin 24)
Junctional	Junctional epidermolysis bullosa	Autosomal recessive	LAMA3, LAMB3, LAMC2	Laminin 332
			COL17A1	Type XVII collagen
			ITGA6, ITGB4	Integrin alpha-6 beta-4
			ITGA3	Integrin alpha-3 subunit
Dermal	Dystrophic epidermolysis bullosa	Autosomal dominant	COL7A1	Type VII collagen
Dermal	Dystrophic epidermolysis bullosa	Autosomal recessive	COL7A1	Type VII collagen
Mixed	Kindler epidermolysis bullosa	Autosomal recessive	FERMT1 (syn. KIND1)	Fermitin family homolog 1 (syn. kindlin-1)

From: Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020. https://onlinelibrary.wiley.com/doi/full/10.1111/bjd.18921. Copyright © 2020 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists. Reproduced with permission of John Wiley & Sons Inc. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email: [email protected] or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (https://onlinelibrary.wiley.com/).

Graphic 129124 Version 1.0

خرید پکیج

Classification of classical epidermolysis bullosa