Junctional epidermolysis bullosa

rare

Junctional epidermolysis bullosa (JEB) is a form of inherited epidermolysis bullosa characterized by involvement of the skin and mucous membranes, and is defined by the formation of blistering lesions between the epidermis and the dermis at the lamina lucida level of the cutaneous basement membrane zone and by healing of lesions with atrophy and/or exuberant granulation tissue formation.

Identifiers: MONDO:0017612 Orphanet:305
Part of: Inherited epidermolysis bullosa
Also known as: EBJ · epidermolysis bullosa atrophicans · epidermolysis bullosa, junctional · JEB

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Junctional epidermolysis bullosa, non-Herlitz type	MONDO:0009180	2	LAMB3
Epidermolysis bullosa, junctional 2A, intermediate	MONDO:0030746		LAMA3
Epidermolysis bullosa, junctional 2B, severe	MONDO:0030747		LAMA3
Epidermolysis bullosa, junctional 3A, intermediate	MONDO:0030748		LAMC2
Epidermolysis bullosa, junctional 3B, severe	MONDO:0030749		LAMC2
Epidermolysis bullosa, junctional 4, intermediate	MONDO:0030750		COL17A1
Epidermolysis bullosa, junctional 5A, intermediate	MONDO:0030768		ITGB4
Epidermolysis bullosa, junctional 6, with pyloric atresia	MONDO:0859233		ITGA6
Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome	MONDO:0013881		ITGA3
Junctional epidermolysis bullosa Herlitz type	MONDO:0009182		LAMB3
Junctional epidermolysis bullosa inversa	MONDO:0019308
Junctional epidermolysis bullosa with pyloric atresia	MONDO:0009183		ITGB4
Laryngo-onycho-cutaneous syndrome	MONDO:0009513		LAMA3
Late-onset junctional epidermolysis bullosa	MONDO:0019309
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	MONDO:0009177

Rare disease

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