Epidermolysis Bullosa in the Netherlands

This article includes a list of resources for patients with epidermolysis bullosa in the Netherlands.

Epidermolysis Bullosa Expert Center

Center for Blistering Diseases, Department of Dermatology, University Medical Center Groningen, the Netherlands. Director: Prof. Dr M.F. Jonkman, P.O. Box 30.001, 9700 RB Groningen, the Netherlands; telephone: +31 50 3 612 520; e-mail address: m.f.jonkman@derm.umcg.nl ( Tables 1 and 2 ).

Table 1

Registrations in Dutch EB Database

Major EB Type + nrs	Subtype + nrs	Mutation	Numbers
Suprabasal EBS (14)	Plakophilin (4)	PP1	4
	Lethal acantholytic (1)	DSP	1
		Unknown yet	9
Basal EBS (120)	EBS localized (60)	KRT5	20
		KRT14	16
		PLEC1	5
		Unknown yet	19
	EBS generalized (18)	KRT5	10
		Unknown yet	18
	EBS, Dowling Meara (24)	KRT5	3
		KRT14	11
		Unknown yet	10
	EBS, autosomal recessive (7)	KRT14	7
	EBS other (11)	KRT5	4
		PLEC1	2
		Unknown yet	5
JEB (66)	JEB, Herlitz (22)	LAMA3	2
		LAMB3	14
		Unknown yet	6
	JEB, non-Herlitz (39)	LAMA3	2
		LAMB3	5
		COL17A1	15
		ITGB4	1
		Unknown yet	16
	JEB-pyloric atresia (5)	ITGB4	1
		Unknown yet	4
DEB (99)	dominant DEB (64)	COL7A1	50
		Unknown yet	14
	Recessive DEB, severe generalized (18)	COL7A1	15
		Unknown yet	3
	Recessive DEB, other (17)	COL7A1	16
		Unknown yet	1
Kindler syndrome (2)	(2)	FERMT1	1
		Unknown yet	1
Unknown subtypes (15)	(15)		15
Total numbers (316)			316