EB type or subtype United States Italy Australia Norway Japan Croatia Others EBS 4.6 10.5 42.0 2.9–4.0 1.5 28.6a EBS-loc 3.1 14.5 0.4 EBS-K 1.4 1.1 EBS-loc/K 5.5 JEB 0.4 …
Fig. 10.1 Distribution and domain structure of kindlin-1. (a) Kindlin-1 (green, arrows) is demonstrated in keratinocytes at focal adhesions and in the epidermis at the dermal-epidermal junction by indirect immunofluorescence…
Fig. 21.1 Relative incidence of pemphigus vulgaris in different populations. The percentage of pemphigus vulgaris in relation to all pemphigus cases is shown 21.2.1 Incidence The incidence of pemphigus considerably…
Fig. 9.1 Molecular organisation of laminin 332 in the dermal–epidermal junction. (a) Structure of human laminin 332 (Modified from Rousselle and Beck [85]). Laminin 332 is composed of three subunits:…
Mutation (cDNA level)a Mutation (protein level) Other designations used in original publications Exon Genotype EBS-MD 954_956dupGCT L319dup 956ins3, 1008ins3, 1287ins3 9 c.het. (Q1408X) 968G>A R323Q 9 c.het. (E1614X) 1530_1531ins36 A510_I511ins12…
© Springer-Verlag Berlin Heidelberg 2015Dédée F. Murrell (ed.)Blistering Diseases10.1007/978-3-662-45698-9_20 20. Prenatal Diagnosis of Epidermolysis Bullosa: Current Aspects and Perspectives Araksya Izmiryan1 and Alain Hovnanian2 (1) INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Hôpital Necker Enfants…
Fig. 4.1 (a) By transmission electron microscopy numerous desmosome cell-cell junctions are present between adjacent keratinocytes; (b) higher magnification of boxed area in (a) shows intracellular and extracellular desmosome morphology;…
Fig. 2.1 Schematic structure of the skin and immune cells. Various immune cells reside in the two major compartments of the skin, the dermis and the epidermis. Epidermal dendritic cells…
Fig. 14.1 Pemphigus, p38, acantholysis, and apoptosis. (a) Model for the temporal relationship of pemphigus IgG-mediated activation of p38MAPK to blistering and apoptosis. Two peaks of p38 phosphorylation occur subsequent…
Non-endemic pemphigus foliaceus Region Patients/controls Alleles Publication year Japan [116] 7/525 DRB1*04; DRB1*0403, DRB1*0406; DRB1*14; DRB1*1401, DRB1*1405, DRB1*1406 1997 Italy [117] 26/128 DRB1*04; DRB1*1404; DQB1*0503 1999 France [118] 20/106 DRB1*0404;…
