Complete filaggrin deficiency in ichthyosis vulgaris is associated with only moderate changes in epidermal permeability barrier function profile

Journal of the European Academy of Dermatology and Venereology

Volumn 27, Issue 12, 2013, Pages 1552-1558

  Perusquia Ortiz A M ^a   Oji, V ^a   Sauerland, M C ^a   Tarinski, T ^a   Zaraeva, I ^a   Seller, N ^a   Metze, D ^a   Aufenvenne, K ^a   Hausser, I ^b   Traupe, H ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FILAGGRIN; KERATOHYALIN; MUTANT PROTEIN;

ADULT; AGED; ARTICLE; ATOPY; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTROLLED STUDY; EPIDERMAL PERMEABILITY BARRIER; FEMALE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYDRATION; ICHTHYOSIS VULGARIS; IN VIVO STUDY; MALE; PERMEABILITY BARRIER; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION MAPPING; SCHOOL CHILD; SKIN BIOPSY; SKIN STRUCTURE; SKIN SURFACE; SKIN WATER LOSS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EPIDERMIS; FEMALE; HUMANS; ICHTHYOSIS VULGARIS; INTERMEDIATE FILAMENT PROTEINS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; PERMEABILITY; YOUNG ADULT;

EID: 84888197987     PISSN: 09269959     EISSN: 14683083     Source Type: Journal    
DOI: 10.1111/jdv.12079     Document Type: Article

References (32)

1. Traupe H,. Autosomal dominant ichthyosis vulgaris. In:, Traupe H, ed. The ichthyosis: a guide to clinical diagnosis, genetic counseling, and therapy, 1st edn. Springer Verlag, Berlin, 1989: 45-53.
2. Wells RS, Kerr CB,. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1966; Apr 16; 1: 947-950.
3. Oji V, Traupe H,. Ichthyosis: clinical manifestations and practical treatment options. Am J Clin Dermatol 2009; 10: 351-364.
4. Brown SJ, Relton CL, Liao H, et al,. Filaggrin null mutations and childhood atopic eczema: a population-based case-control study. J Allergy Clin Immunol 2008; 121: 940-946.e3.
5. Akiyama M,. FLG mutations in ichthyosis vulgaris and atopic eczema: spectrum of mutations and population genetics. Br J Dermatol 2010; 162: 472-477.
6. Oji V, Seller N, Sandilands A, et al,. Ichthyosis vulgaris: novel FLG mutations in the German population and high presence of CD1a+ cells in the epidermis of the atopic subgroup. Br J Dermatol 2009; 160: 771-781.
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: 337-342.
8. Sandilands A, Terron-Kwiatkowski A, Hull PR, et al,. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet 2007; 39: 650-654.
9. Sandilands A, Smith FJ, Irvine AD, McLean WH,. Filaggrin's fuller figure: a glimpse into the genetic architecture of atopic dermatitis. J Invest Dermatol 2007; 127: 1282-1284.
10. O'Regan GM, Sandilands A, McLean WH, Irvine AD,. Filaggrin in atopic dermatitis. J Allergy Clin Immunol 2009; 124 (3 Suppl 2): R2-R6.
11. Osawa R, Akiyama M, Shimizu H,. Filaggrin gene defects and the risk of developing allergic disorders. Allergol Int 2011; 60: 1-9.
12. O'Regan GM, Kemperman PM, Sandilands A, et al,. Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. J Allergy Clin Immunol 2010; 126: 574-580.
13. Krug M, Oji V, Traupe H, Berneburg M,. Ichthyoses (Part 1): differential diagnosis of vulgar ichthyoses and therapeutic options. J Dtsch Dermatol Ges 2009; 7: 511-519.
14. O'Regan GM, Irvine AD,. The role of filaggrin loss-of-function mutations in atopic dermatitis. Curr Opin Allergy Clin Immunol 2008; 8: 406-410.
15. Schmid-Wendtner MH, Korting HC,. The pH of the skin surface and its impact on the barrier function. Skin Pharmacol Physiol 2006; 19: 296-302.
16. Palmer CN, Irvine AD, Terron-Kwiatkowski A, et al,. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet 2006; 38: 441-446.
17. Hüffmeier U, Traupe H, Oji V, et al,. Loss-of-function variants of the filaggrin gene are not major susceptibility factors for psoriasis vulgaris or psoriatic arthritis in German patients. J Invest Dermatol 2007; 127: 1367-1370.
18. Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M,. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet 2007; 15: 179-184.
19. McGrath JA, Uitto J,. The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med 2008; 14: 20-27.
20. Barker JN, Palmer CN, Zhao Y, et al,. Null mutations in the filaggrin gene (FLG) determine major susceptibility to early-onset atopic dermatitis that persists into adulthood. J Invest Dermatol 2007; 127: 564-567.
21. Gruber R, Elias PM, Crumrine D, et al,. Filaggrin genotype in ichthyosis vulgaris predicts abnormalities in epidermal structure and function. Am J Pathol 2011; 178: 2252-2263.
22. Seidenari S, Giusti G,. Objective assessment of the skin of children affected by atopic dermatitis: a study of pH, capacitance and TEWL in eczematous and clinically uninvolved skin. Acta Derm Venereol 1995; 75: 429-433.
23. Chamlin SL, Kao J, Frieden IJ, et al,. Ceramide-dominant barrier repair lipids alleviate childhood atopic dermatitis: changes in barrier function provide a sensitive indicator of disease activity. J Am Acad Dermatol 2002; 47: 198-208.
24. Sugarman JL, Fluhr JW, Fowler AJ, Bruckner T, Diepgen TL, Williams ML,. The objective severity assessment of atopic dermatitis score: an objective measure using permeability barrier function and stratum corneum hydration with computer-assisted estimates for extent of disease. Arch Dermatol 2003; 139: 1417-1422.
25. Moskowitz DG, Fowler AJ, Heyman MB, et al,. Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr 2004; 145: 82-92.
26. Voegeli R, Rawlings AV, Breternitz M, Doppler S, Schreier T, Fluhr JW,. Increased stratum corneum serine protease activity in acute eczematous atopic skin. Br J Dermatol 2009; 161: 70-77.
27. Nemoto-Hasebe I, Akiyama M, Nomura T, Sandilands A, McLean WHI, Shimizu H,. Clinical severity correlates with impaired barrier in filaggrin-related eczema. J Invest Dermatol 2009; 129: 682-689.
28. Grice KA, Bettley FR,. Skin water loss and accidental hypothermia in psoriasis, ichthyosis, and erythroderma. Br Med J 1967; 28: 4.
29. Frost P, Weinstein GD, Bothwell JW, Wildnauer R,. Ichthyosiform dermatoses. 3. Studies of transepidermal water loss. Arch Dermatol 1968; 98: 230-233.
30. Lavrijsen AP, Oestmann E, Hermans J, Boddé HE, Vermeer BJ, Ponec M,. Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate. Br J Dermatol 1993; 129: 547-554.
31. Öhman H, Vahlquist A,. The pH gradient over the stratum corneum differs in X-linked recessive and autosomal dominant ichthyosis: a clue to the molecular origin of the 'acid skin mantle'? J Invest Dermatol 1998; 111: 674-677.
32. Winge MC, Hoppe T, Berne B, et al,. Filaggrin genotype determines functional and molecular alterations in skin of patients with atopic dermatitis and ichthyosis vulgaris. PLoS ONE 2011; 6: e28254.