Book ChapterDOI
Disorders of Keratinization
Ronald Marks,Arthur Knight,P. Laidler +2 more
- pp 41-44
TLDR
This term is used to describe disorders in which there is a primary fault in the process of epidermal differentiation and (or) desquamation and includes the ichthyotic disorders.Abstract:
This term is used to describe disorders in which there is a primary fault in the process of epidermal differentiation and (or) desquamation. It includes the ichthyotic disorders and a number of other quite uncommon disorders in which there is scaling and hyperkeratosis.read more
Citations
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Journal ArticleDOI
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
Frances J.D. Smith,Alan D. Irvine,Ana Terron-Kwiatkowski,Aileen Sandilands,Linda E. Campbell,Yiwei Zhao,Haihui Liao,Alan Evans,David Goudie,Sue Lewis-Jones,Gehan Arseculeratne,Colin S. Munro,Ann Sergeant,Grainne M. O'Regan,Sherri J. Bale,John G. Compton,John J. DiGiovanna,John J. DiGiovanna,Richard B. Presland,Philip Fleckman,W.H. Irwin McLean +20 more
TL;DR: It is found that loss or reduction of this major structural protein, filaggrin, leads to varying degrees of impaired keratinization.
Journal ArticleDOI
Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema.
Aileen Sandilands,Ana Terron-Kwiatkowski,Peter R. Hull,Grainne M. O'Regan,Timothy H Clayton,Rosemarie Watson,Thomas Carrick,Alan Evans,Haihui Liao,Yiwei Zhao,Linda E. Campbell,Matthias Schmuth,Robert Gruber,Andreas R. Janecke,Peter M. Elias,Maurice A.M. van Steensel,Ivo F Nagtzaam,Michel van Geel,Peter M. Steijlen,Colin S. Munro,Daniel G. Bradley,Colin N. A. Palmer,Frances J.D. Smith,W.H. Irwin McLean,Alan D. Irvine,Alan D. Irvine +25 more
TL;DR: It is shown that the common filaggrin (FLG) null mutations that cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases are ancestral variants carried on conserved haplotypes, and a strategy for full sequencing of this large, highly repetitive gene is reported.
Journal ArticleDOI
One remarkable molecule: Filaggrin
Sara J. Brown,W.H. Irwin McLean +1 more
TL;DR: This review aims to highlight the key milestones in filaggrin research over the past 25 years, to discuss the mechanistic, clinical and therapeutic implications and to consider possible future directions for ongoing investigation.
Journal ArticleDOI
Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
Caroline Lefèvre,Stéphanie Audebert,Florence Jobard,Bakar Bouadjar,Hakima Lakhdar,Omar Boughdene-Stambouli,Claudine Blanchet-Bardon,Roland Heilig,Mario Foglio,Jean Weissenbach,Mark Lathrop,Jean-François Prud'homme,Judith Fischer +12 more
TL;DR: The identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2 are reported, which are localized in the first ATP-binding domain (nucleotide-binding fold), which is highly conserved in all ABC proteins.
Journal ArticleDOI
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3
Caroline Lefèvre,Bakar Bouadjar,Véronique Ferrand,Gianluca Tadini,André Mégarbané,Mark Lathrop,Jean François Prud'homme,Judith Fischer +7 more
TL;DR: The identification of mutations in a non-syndromic autosomal recessive congenital ichthyosis (ARCI) in a new gene mapping within a previously identified locus on chromosome 19p12-q12, which has been defined as LI3 in the OMIM database, is reported.
References
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Journal ArticleDOI
Epidermal lipids, barrier function, and desquamation.
TL;DR: A heterogeneous two-compartment model of the stratum corneum that ascribes a special role for intercellular lipids in the regulation of stratum Corneum barrier function and desquamation is proposed.
Journal ArticleDOI
Studies on contact sensitivity to chromium in the guinea pig. The role of valence in the formation of the antigenic determinant.
TL;DR: From the failure to select lymphocytes directed specifically against a chromium determinant of a particular valence it is concluded that by sensitization with chromium salts of different valences a common determinant or closely related determinants are formed.
Journal ArticleDOI
Heterogeneity in autosomal recessive ichthyosis. Clinical and biochemical differentiation of lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.
Mary L. Williams,Peter M. Elias +1 more
TL;DR: These clinical, histologic, and biochemical findings provide useful guidelines to differentiate CIE from LI and strongly suggest that autosomal recessive primary ichthyosis comprises two distinct diseases.
Journal ArticleDOI
Clinical, histologic, and cell kinetic discriminants between lamellar ichthyosis and nonbullous congenital ichthyosiform erythroderma.
Michael Hazell,Ronald Marks +1 more
TL;DR: Patients described as having lamellar ichthyosis (LI) may not all have the same disorder, and the hypothesis that LI and CIE are separate disorders is supported.
Journal ArticleDOI
Localized epidermolytic hyperkeratosis. A form of keratoderma of the palms and soles.
TL;DR: Nine patients with a familial type of diffuse hyperkeratosis of the palms and soles are reported, and skin biopsies and epidermal kinetic studies showed the changes of epidermolytic hyperker atosis.