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Titolo:
Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis
Autore:
Schmuth, M; Yosipovitch, G; Williams, ML; Weber, F; Hintner, H; Ortiz-Urda, S; Rappersberger, K; Crumrine, D; Feingold, KR; Elias, PM;
Indirizzi:
Vet Affairs Med Ctr, Metab Sect, San Francisco, CA 94121 USA Vet Affairs Med Ctr San Francisco CA USA 94121 an Francisco, CA 94121 USA Vet Affairs Med Ctr, Serv Dermatol, San Francisco, CA 94121 USA Vet Affairs Med Ctr San Francisco CA USA 94121 an Francisco, CA 94121 USA Univ Calif San Francisco, Dept Dermatol, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Univ Calif San Francisco, Dept Internal Med, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Natl Skin Ctr, Singapore 1130, Singapore Natl Skin Ctr Singapore Singapore 1130 in Ctr, Singapore 1130, Singapore Gen Hosp Salzburg, Dept Dermatol, Salzburg, Austria Gen Hosp Salzburg Salzburg Austria rg, Dept Dermatol, Salzburg, Austria Innsbruck Univ, Dept Dermatol, A-6020 Innsbruck, Austria Innsbruck Univ Innsbruck Austria A-6020 matol, A-6020 Innsbruck, Austria Univ Vienna, Dept Dermatol, A-1010 Vienna, Austria Univ Vienna Vienna Austria A-1010 Dept Dermatol, A-1010 Vienna, Austria
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 4, volume: 117, anno: 2001,
pagine: 837 - 847
SICI:
0022-202X(200110)117:4<837:POTPBA>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
KERATIN INTERMEDIATE FILAMENTS; CORNIFIED ENVELOPE PROTEIN; STRATUM-CORNEUM; CELL-ENVELOPE; SPHINGOMYELINASE ACTIVITY; LAMELLAR ICHTHYOSIS; SQUAMOUS EPITHELIA; EPIDERMAL BARRIER; BULLOSA SIMPLEX; DEFICIENT MICE;
Keywords:
cornified envelope; intermedia filaments; keratin; stratum corneum; transepidermal water loss;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
59
Recensione:
Indirizzi per estratti:
Indirizzo: Schmuth, M Vet Affairs Med Ctr, Metab Sect 111F, 4150 Clement St, San Francisco, CA 94121 USA Vet Affairs Med Ctr 4150 Clement St San Francisco CA USA 94121
Citazione:
M. Schmuth et al., "Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosis", J INVES DER, 117(4), 2001, pp. 837-847

Abstract

Epidermolytic hyperkeratosis is a dominantly inherited ichthyosis, frequently associated with mutations in keratin 1 or 10 that result in disruption of the keratin filament cytoskeleton leading to keratinocyte fragility. In addition to blistering and a severe disorder of cornification, patients typically display an abnormality in permeability barrier function. The nature and pathogenesis of the barrier abnormality in epidermolytic hyperkeratosisare unknown, however. We assessed here, first, baseline transepidermal water loss and barrier recovery kinetics in patients with epidermolytic hyperkeratosis. Whereas baseline transepidermal water loss rates were elevated byapproximately 3-fold, recovery rates were faster in epidermolytic hyperkeratosis than in age-matched controls. Electron microscopy showed no defect in either the cornified envelope or the adjacent cornified-bound lipid envelope, i.e., a corneocyte scaffold abnormality does not explain the barrier abnormality. Using the water-soluble tracer, colloidal lanthanum, there was no evidence of tracer accumulation in corneocytes, despite the fragility ofnucleated keratinocytes. Instead, tracer, which was excluded in normal skin, moved through the extracellular stratum corneum domains. Increasing intercellular permeability correlated with decreased quantities and defective organization of extracellular lamellar bilayers. The decreased lamellar material, in turn, could be attributed to incompletely secreted lamellar bodieswithin granular cells, demonstrable not only by several morphologic findings, but also by decreased delivery of a lamellar body content marker, acid lipase, to the stratum corneum interstices. Yet, after acute barrier disruption a rapid release of preformed lamellar body contents was observed together with increased organelle contents in the extracellular spaces, accounting for the accelerated recovery kinetics in epidermolytic hyperkeratosis. Accelerated recovery, in turn, correlated with a restoration in calcium in outer stratum granulosum cells in epidermolytic hyperkeratosis after barrierdisruption. Thus, the baseline permeability barrier abnormality in epidermolytic hyperkeratosis can be attributed to abnormal lamellar body secretion, rather than to corneocyte fragility or an abnormal cornified envelope/cornified-bound lipid envelope scaffold, a defect that can be overcome by external applications of stimuli for barrier repair.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 20:33:26