Coexistence of KRT14 and KRT5 mutations in a Polish patient with epidermolysis bullosa simplex

British Journal of Dermatology

Volumn 170, Issue 2, 2014, Pages 468-469

  Wertheim Tysarowska, K ^a   Sota, J ^a   Kutkowska Kazmierczak A ^a   Wozniak K ^b   Bal, J ^a   Kowalewski, C ^b  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

CHILD, PRESCHOOL; EPIDERMOLYSIS BULLOSA SIMPLEX; HUMANS; KERATIN-14; KERATIN-5; MALE; MUTATION; PEDIGREE;

EID: 84894265949     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12624     Document Type: Letter

References (10)

1. Fine JD,. Inherited epidermolysis bullosa. Orphanet J Rare Dis 2010; 28: 5-12.
2. Bolling MC, Lemmink HH, Jansen GH, Jonkman MF,. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol 2011; 164: 637-44.
3. Coulombe PA, Lee CH,. Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath. J Invest Dermatol 2012; 132: 763-75.
4. Muller FB, Kuster W, Wodecki K,. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. Hum Mutat 2006; 27: 719-20.
5. Ołdak M, Szczecińska W, Przybylska D, et al,. Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex. J Dermatol Sci 2011; 61: 64-7.
6. Arin MJ, Grimberg G, Schumann H, et al,. Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. Br J Dermatol 2010; 162: 1365-9.
7. Rugg EL, Horn HM, Smith FJ, et al,. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations. J Invest Dermatol 2007; 127: 574-80.
8. Yasukawa K, Sawamura D, McMillan JR, et al,. Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. J Biol Chem 2002; 277: 23670-4.
9. Padalon-Brauch G, Ben Amitai D, Vodo D, et al,. Digenic inheritance in epidermolysis bullosa simplex. J Invest Dermatol 2012; 132: 2852-4.
10. Chamcheu JC, Wood GS, Siddiqui IA, et al,. Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise. Exp Dermatol 2012; 21: 481-9.