A case of junctional epidermolysis bullosa with prurigo-like lesions and reduction of collagen XVII and filaggrin

British Journal of Dermatology

Volumn 169, Issue 1, 2013, Pages 195-198

  Cifuentes, L ^a   Kiritsi, D ^b   Chen, W ^a   Pennino, J ^a   Ring, J ^a   Weidinger, S ^c   Has, C ^b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF KIEL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 17; FILAGGRIN; KALININ; AUTOANTIGEN; INTERMEDIATE FILAMENT PROTEIN; NONFIBRILLAR COLLAGEN;

ADULT; CASE REPORT; DERMOEPIDERMAL JUNCTION; EPIDERMOLYSIS BULLOSA; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LETTER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PRURIGO; COMPLICATION; DEFICIENCY; GENETICS; MUTATION; YOUNG ADULT;

AUTOANTIGENS; EPIDERMOLYSIS BULLOSA, JUNCTIONAL; FEMALE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MUTATION; NON-FIBRILLAR COLLAGENS; PRURIGO; YOUNG ADULT;

EID: 84879985490     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12241     Document Type: Letter

References (11)

1. Fine JD, Eady RA, Bauer EA, et al., The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008; 58: 931-50.
2. Pasmooij AM, Pas HH, Jansen GH, et al., Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands. Br J Dermatol 2007; 156: 861-70.
3. Kiritsi D, Kern JS, Schumann H, et al., Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet 2011; 48: 450-7.
4. Nishie W, Kiritsi D, Nystrom A, et al., Dynamic interactions of epidermal collagen XVII with the extracellular matrix: laminin 332 as a major binding partner. Am J Pathol 2011; 179: 829-37.
5. Almaani N, Liu L, Dopping-Hepenstal PJ, et al., Autosomal dominant junctional epidermolysis bullosa. Br J Dermatol 2009; 160: 1094-7.
6. Baralle D, Baralle M,. Splicing in action: assessing disease causing sequence changes. J Med Genet 2005; 42: 737-48.
7. Smith FJ, Irvine AD, Terron-Kwiatkowski A, et al., Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 2006; 38: 337-42.
8. Franzke CW, Has C, Schulte C, et al., C-terminal truncation impairs glycosylation of transmembrane collagen XVII and leads to intracellular accumulation. J Biol Chem 2006; 281: 30260-8.
9. Schumann H, Has C, Kohlhase J, et al., Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol 2008; 159: 464-9.
10. Mabuchi E, Umegaki N, Murota H, et al., Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation. Br J Dermatol 2007; 157: 596-8.
11. Irvine AD, McLean WH, Leung DY,. Filaggrin mutations associated with skin and allergic diseases. N Engl J Med 2011; 365: 1315-27.