Epidermolysis bullosa-related disorders

Level of skin cleavage	Disorder name	Inheritance	Mutated gene(s)	Targeted protein(s)
Peeling skin disorders
Intraepidermal	Peeling skin disorders	Autosomal recessive	TGM5	Transglutaminase 5
			CSTA	Cystatin A
			CTSB	Cathepsin B
			SERPINB8	Serpin protease inhibitor 8
			FLG2	Filaggrin 2
			CDSN	Corneodesmosin
			CAST	Calpastatin
			DSG1*	Desmoglein 1
			SPINK5	LEKTI
Erosive disorders
Intraepidermal	Erosive skin fragility disorders	Autosomal recessive	DSP	Desmoplakin
			JUP	Plakoglobin
			PKP1	Plakophilin 1
			DSC3	Desmocollin 3
			DSG3	Desmoglein 3
Hyperkeratotic disorders with skin fragility
Intraepidermal	Keratinopathic ichthyoses	Autosomal dominant	KRT1, KRT10, KRT2	Keratin 1, 10, 2
	Keratinopathic ichthyoses	Autosomal recessive	KRT10	Keratin 10
	Pachyonychia congenita	Autosomal dominant	KRT6A, KRT6B, KRT6C, KRT16, KRT17	Keratin 6A, 6B, 6C, 16, 17
Connective tissue disorder with skin fragility
Dermal	Syndromic connective tissue disorder with skin fragility	Autosomal recessive	PLOD3	Lysyl hydroxylase 3

* Also hyperkeratotic features.

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/).

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Epidermolysis bullosa-related disorders