Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferredby mutations in the 2B domain of keratin K1
Autore:
Sybert, VP; Francis, JS; Corden, LD; Smith, LT; Weaver, M; Stephens, K; McLean, WHI;
Indirizzi:
Childrens Hosp & Med Ctr, Div Dermatol, Dept Pediat, Seattle, WA 98105 USAChildrens Hosp & Med Ctr Seattle WA USA 98105 diat, Seattle, WA 98105 USA Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 , Dept Pediat, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Med, Seattle, WA 98195 USA Univ WashingtonSeattle WA USA 98195 Med, Dept Med, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Biol Struct, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 t Biol Struct, Seattle, WA 98195 USA Univ Washington, Sch Med, Dept Lab Med, Seattle, WA 98195 USA Univ Washington Seattle WA USA 98195 Dept Lab Med, Seattle, WA 98195 USA Univ Dundee, Dept Anat & Physiol, Dundee DD1 4HN, Scotland Univ Dundee Dundee Scotland DD1 4HN & Physiol, Dundee DD1 4HN, Scotland Ninewells Med Sch, Dept Mol & Cellular Pathol, Dundee, Scotland Ninewells Med Sch Dundee Scotland l & Cellular Pathol, Dundee, Scotland
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 64, anno: 1999,
pagine: 732 - 738
SICI:
0002-9297(199903)64:3<732:CIWEHA>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
BULLOSA SIMPLEX PATIENTS; GENE; DIFFERENTIATION; ERYTHRODERMA; FAMILIES; DISORDER; SIEMENS; 2E;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Sybert, VP ChildrensWaysp & Med Ctr, Div Dermatol, Dept Pediat, CH-25,4800Sand Point Childrens Hosp & Med Ctr CH-25,4800 Sand Point Way NE,POB 5371 Seattle WA USA 98105
Citazione:
V.P. Sybert et al., "Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferredby mutations in the 2B domain of keratin K1", AM J HU GEN, 64(3), 1999, pp. 732-738

Abstract

Bullous congenital ichthyosiform erythroderma (BCIE) is characterized by blistering and erythroderma in infancy and by erythroderma and ichthyosis thereafter. Epidermolytic hyperkeratosis is a hallmark feature of light and electron microscopy. Here we report on Tour individuals from two families with a unique clinical disorder with histological findings of epidermolytic hyperkeratosis; Manifesting erythema and superficial erosions at birth, which improved during the first few months of life, affected individuals later developed palmoplantar hyperkeratosis with patchy erythema and scale elsewhere on the body. Three affected individuals exhibit dramatic episodic flares of annular, polycyclic erythematous plaques with scale, which coalesce toinvolve most of the body surface. The flares last weeks to months. In the interim periods the skin may be normal, except for palmoplantar hyperkeratosis. Abnormal keratin-filament aggregates were observed in suprabasal keratinocytes from both probands, suggesting that the causative mutation might reside in keratin K1 or keratin K10. In one proband, sequencing of K1 revealed a heterozygous mutation, 1436T-->C, predicting a change of isoleucine tothreonine in the highly conserved helix-termination motif. In the second family, a heterozygous mutation, 1435A-->T, was found in K1, predicting an isoleucine-to-phenylalanine substitution in the same codon. Both mutations were excluded in both a control population and all unaffected family memberstested. These findings reveal that a clinical phenotype distinct from classic BCIE but with similar histology can result from K1 mutations and that mutations at this codon give rise to a clinically unique condition.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 06:07:20