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Titolo:
Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential
Autore:
Shemanko, CS; Horn, HM; Keohane, SG; Hepburn, N; Kerr, AIG; Atherton, DJ; Tidman, MJ; Lane, EB;
Indirizzi:
Georg Speyer Haus, Inst Biomed Res, Frankfurt, Germany Georg Speyer Haus Frankfurt Germany Inst Biomed Res, Frankfurt, Germany Univ Dundee, Dept Anat & Physiol, Canc Res Campaign Labs, Dundee DD1 5EH, Scotland Univ Dundee Dundee Scotland DD1 5EH paign Labs, Dundee DD1 5EH, Scotland Royal Infirm Edinburgh, Dept Dermatol, Edinburgh, Midlothian, Scotland Royal Infirm Edinburgh Edinburgh Midlothian Scotland idlothian, Scotland Royal Infirm Edinburgh, ENT Dept, Edinburgh, Midlothian, Scotland Royal Infirm Edinburgh Edinburgh Midlothian Scotland idlothian, Scotland St Marys Univ, Milford Dermatol Unit, Portsmouth PO3 6AD, Hants, England St Marys Univ Portsmouth Hants England PO3 6AD th PO3 6AD, Hants, England Lincoln Cty Hosp, Dept Dermatol, Lincoln LN2 5Y, England Lincoln Cty HospLincoln England LN2 5Y ermatol, Lincoln LN2 5Y, England Great Ormond St Hosp Children, Dept Dermatol, London WC1N 3JH, England Great Ormond St Hosp Children London England WC1N 3JH WC1N 3JH, England
Titolo Testata:
BRITISH JOURNAL OF DERMATOLOGY
fascicolo: 2, volume: 142, anno: 2000,
pagine: 315 - 320
SICI:
0007-0963(200002)142:2<315:LIITDV>2.0.ZU;2-T
Fonte:
ISI
Lingua:
ENG
Soggetto:
HOMOZYGOUS NONSENSE MUTATION; ELEVATED ALPHA-FETOPROTEIN; HELIX TERMINATION PEPTIDE; ROD DOMAIN; INTERMEDIATE FILAMENTS; CHAIN GENE; MUSCULAR-DYSTROPHY; CONSENSUS SEQUENCE; EXPRESSION; LAMININ-5;
Keywords:
Dowling-Meara; epidermolysis bullosa simplex; hoarseness; junctional epidermolysis bullosa; keratin 14; keratin 5; laryngeal blisters;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Shemanko, CS Inst Biomed Res, Georg Speyer Haus,Paul Ehrlich Str 42-44, D-60596 Frankfurt, Germany Inst Biomed Res Georg Speyer Haus,Paul Ehrlich Str42-44 Frankfurt Germany D-60596
Citazione:
C.S. Shemanko et al., "Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential", BR J DERM, 142(2), 2000, pp. 315-320

Abstract

The clinical features of the Dowling-Meara variant of epidermolysis bullosa simplex (EBS-DM) can, in an infant, be indistinguishable from other severe forms of epidermolysis bullosa (EBS), Two unrelated infants with no family history of skin disease are described who, within hours of birth, developed extensive blistering of skin and oral mucosae and who both subsequently developed hoarse cries. Despite this superficial resemblance to other formsof EB, electron microscopy revealed a basal cell rupture and keratin aggregates characteristic of EBS-DM in the skin of both infants and in the vocalcord epithelium of one. Molecular analysis confirmed the diagnosis by identification of mis-sense point mutations in basal cell Keratin genes in bothcases, One patient carries a point mutation in keratin 14 (converting arginine at position 125 to histidine) and the other has a novel paint mutationin keratin 5 (converting serine at position 181 to proline), Hoarseness isnot a well documented feature of EBS-DM and is usually associated with junctional EB, These two patients demonstrate that the presence of a hoarse cry in an infant affected by severe EB does not necessarily indicate a poor prognosis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/04/20 alle ore 04:58:51