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• W2997653242 abstract "Annular epidermolytic ichthyosis (AEI) is a rare subtype of epidermolytic ichthyosis (EI) characterized by recurrent flares of erythematous and scaly lesions alternating with periods of almost normal skin with or without associated palmoplantar keratoderma (PPK).1Oji V. Tadini G. Akiyama M. et al.Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.J Am Acad Dermatol. 2010; 63: 607-641Abstract Full Text Full Text PDF PubMed Scopus (527) Google Scholar We report on 2 different patients with AEI showing pathogenic variants in the KRT1 and KRT10 genes respectively, and review the main clinical, histologic and molecular findings of this exceptional subset of EI. A 6-month-old boy was brought for consultation because of blisters and erosions since birth. The child had been born at term by vaginal birth to a healthy mother. Maternal family background was unremarkable, and paternal family history could not be tracked. On physical examination, there were annular erythematous and scaly lesions on the diaper area and proximal lower extremities. There was mild hyperkeratosis on the armpits, elbows, and intergluteal fold, as well as superficial blisters on the palms and soles. Pathologic analysis showed hyperkeratosis with epidermal detachment within the granular layer and acantholysis in the upper spinous layers. Targeted DNA sequencing of the KRT1 gene from peripheral blood identified a heterozygous missense variant c.1436T>C; p.(Ile479Thr) in KRT1. After 2 years of follow-up, the patient developed diffuse PPK and continues to show recurrent crops of transient annular scaly lesions on the lower portion of the trunk (Figs 1 and 2).Fig 2Case 1: clinical findings when the patient was 2 years old, showing diffuse hyperkeratosis of the soles.View Large Image Figure ViewerDownload Hi-res image Download (PPT) A 3-month-old boy, born at term to healthy, nonconsanguineous parents, was brought for consultation for recurrent crops of cutaneous lesions. Large areas of blisters and erosions over the genital area and limbs were observed shortly after birth. On physical examination, there were transient annular polycyclic erythematous plaques over the trunk, knees, ankles, and lateral aspects of the feet and upper limbs (Figs 3 and 4). Palms and soles were uninvolved. Periods of almost complete clearing were observed. Biopsy of an erythematous and scaly lesion on the trunk showed thick hyperkeratosis with foci of parakeratosis, hypergranulosis with prominent and coarse keratohyalin granules, and vacuolar degeneration of the superficial spinous and granular layers. Targeted DNA sequencing from peripheral blood identified the pathogenic variant c.467G>A;p.Arg156His in the KRT10 gene in heterozygosis. After 1 year of follow-up, the boy continues to have waxing and waning annular and polycyclic erythematous scaly lesions and shows mild hyperkeratosis on knees, elbows, and major folds.Fig 4Case 2: annular hyperkeratotic and scaly lesions on the wrists. Preaxial polydactyly in the right first finger was observed.View Large Image Figure ViewerDownload Hi-res image Download (PPT) AEI was included as a minor variant of epidermolytic ichthyosis (EI) in the last consensus classification of congenital ichthyosis.1Oji V. Tadini G. Akiyama M. et al.Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.J Am Acad Dermatol. 2010; 63: 607-641Abstract Full Text Full Text PDF PubMed Scopus (527) Google Scholar The name was coined in 1992 by Sahn et al,2Sahn E.E. Weimer Jr., C.E. Garen P.D. Annular epidermolytic ichthyosis: a unique phenotype.J Am Acad Dermatol. 1992; 27: 348-355Abstract Full Text PDF PubMed Scopus (26) Google Scholar who reported the first family with AEI. Although the researchers did not provide genetic testing, their patient showed palmoplantar involvement consistent with a KRT1 gene variant. Since then, only 16 additional cases due to either KRT13Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar, 4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar, 5Michael E.J. Schneiderman P. Grossman M.E. et al.Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Exp Dermatol. 1999; 8: 501-503Crossref PubMed Scopus (20) Google Scholar or KRT106Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar, 7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar, 8Yoneda K. Morita E. Akiyama M. et al.Annular epidermolytic ichthyosis.Br J Dermatol. 1999; 141: 748-750Crossref PubMed Scopus (7) Google Scholar, 9Yang J.M. Yoneda K. Morita et al.An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.J Invest Dermatol. 1997; 109: 692-694Abstract Full Text PDF PubMed Scopus (19) Google Scholar gene pathogenic variants, belonging to 7 different families, have been published in the literature (Table I).Table IPhenotypic and genotypic findings of all reported cases of AEIReferenceCase NumberAge/SexClinical FeaturesMutationTreatmentBlistering at BirthMigratory Annular Erythematous Scaly PlaquesPPKKRT GeneGenetic Locus; ProteinSybert et al (1999)3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar123 (mother of case 2)4 (aunt of case 2)3 years/M18 years/MNS/FNS/F+---++-+++++KRT1 2B segment (case 1)KRT12B segment (cases 2, 3, and 4c.1436T>C; p.(Ile479Thr) (case 1)c.1435A>T; p.(Ile479Phe) (cases 2, 3, and 4)NSMichael et al (1999)5Michael E.J. Schneiderman P. Grossman M.E. et al.Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Exp Dermatol. 1999; 8: 501-503Crossref PubMed Scopus (20) Google Scholar5, 6, 7, 8 (same family)NS+++KRT12B segmentc.1435A>T; p.(Ile479Phe)EmollientsZaki et al (2018)4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar95 years/F+++KRT12B segmentc.1436T-C; p.(Ile479Thr)Emollients + topical keratolytics + topical steroidsCase 1176 months/M+++KRT12B segmentc.1436T>C; p.(Ile479Thr)Emollients + topical keratolyticsJoh et al (1997)6Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar10 (father of case 11)11 (daughter of case 10)33 years/M2 months/F++++--KRT102B segmentc.1264_1265delinsGA;p.(Arg422Glu)Emollients + acitretinSuga et al (1998)7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar1213 (mother of case 12)14 (sister of case 12)11 years/MNS/FNS/F---+-----KRT102B segmentc.1337T>C; p.(Ile446Thr)NSYoneda et al (1999)9Yang J.M. Yoneda K. Morita et al.An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.J Invest Dermatol. 1997; 109: 692-694Abstract Full Text PDF PubMed Scopus (19) Google Scholar1516 (mother of 15)18 years/M48 years/F++++--KRT101A segmentc.472G>C;p.(Ala158Pro)Emollients, etretinateCase 2183.5 months/M++-KRT101A segmentc.467G>A; (p.Arg156His)EmollientsAEI, Annular epidermolytic ichthyosis; F, female; KRT, keratin; M, male; NS, not stated; PPK, palmoplantar keratoderma. Open table in a new tab AEI, Annular epidermolytic ichthyosis; F, female; KRT, keratin; M, male; NS, not stated; PPK, palmoplantar keratoderma. AEI clinical findings are distinctive and relatively easy to recognize. The condition is characterized by intermittent flares of annular and polycyclic erythematous and scaly plaques over the trunk and extremities from early infancy3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar,4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar,6Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar or, more rarely, from childhood or adult life.7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar,8Yoneda K. Morita E. Akiyama M. et al.Annular epidermolytic ichthyosis.Br J Dermatol. 1999; 141: 748-750Crossref PubMed Scopus (7) Google Scholar Blistering and superficial erosions are commonly present at birth, with3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar,6Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar or without accompanying erythema.2Sahn E.E. Weimer Jr., C.E. Garen P.D. Annular epidermolytic ichthyosis: a unique phenotype.J Am Acad Dermatol. 1992; 27: 348-355Abstract Full Text PDF PubMed Scopus (26) Google Scholar,4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar,5Michael E.J. Schneiderman P. Grossman M.E. et al.Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Exp Dermatol. 1999; 8: 501-503Crossref PubMed Scopus (20) Google Scholar,7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar,8Yoneda K. Morita E. Akiyama M. et al.Annular epidermolytic ichthyosis.Br J Dermatol. 1999; 141: 748-750Crossref PubMed Scopus (7) Google Scholar Inconstant diffuse hyperkeratosis in the flexural areas and extensor surfaces is seen.3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar,4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar,6Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar,7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar KRT1 gene variants are associated with PPK,3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar, 4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar, 5Michael E.J. Schneiderman P. Grossman M.E. et al.Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Exp Dermatol. 1999; 8: 501-503Crossref PubMed Scopus (20) Google Scholar whereas KRT10 variants result in sparing of the palms and soles.6Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar, 7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar, 8Yoneda K. Morita E. Akiyama M. et al.Annular epidermolytic ichthyosis.Br J Dermatol. 1999; 141: 748-750Crossref PubMed Scopus (7) Google Scholar, 9Yang J.M. Yoneda K. Morita et al.An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.J Invest Dermatol. 1997; 109: 692-694Abstract Full Text PDF PubMed Scopus (19) Google Scholar Unlike major forms of EI, periods of almost complete clearing are possible, except for PPK in patients with KRT1 gene variants.3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar, 4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar, 5Michael E.J. Schneiderman P. Grossman M.E. et al.Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Exp Dermatol. 1999; 8: 501-503Crossref PubMed Scopus (20) Google Scholar,7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar Histologically, orthokeratotic hyperkeratosis, prominent acantholysis, and a thickened granular layer with coarse keratohyalin granules are common findings, whereas vacuolar degeneration appears in both in AEI and major forms of EI, in EAI it appears in upper layers of the epidermis.3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar, 4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar, 5Michael E.J. Schneiderman P. Grossman M.E. et al.Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Exp Dermatol. 1999; 8: 501-503Crossref PubMed Scopus (20) Google Scholar, 6Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar, 7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar, 8Yoneda K. Morita E. Akiyama M. et al.Annular epidermolytic ichthyosis.Br J Dermatol. 1999; 141: 748-750Crossref PubMed Scopus (7) Google Scholar, 9Yang J.M. Yoneda K. Morita et al.An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.J Invest Dermatol. 1997; 109: 692-694Abstract Full Text PDF PubMed Scopus (19) Google Scholar Like all keratins, KRT1 and K1RT0 are composed of a globular head and a tail domain with an alpha helical central rod domain composed of 4 distinct segments (1A, 1B, 2A, and 2B) separated by nonhelical linkers (Fig 5). Pathogenic variants in KRT10 are located in the 2B segment of KRT106Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar,7Suga Y. Duncan K.O. Heald P.W. et al.A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1998; 111: 1220-1223Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar and in the 1A rod domain of the gene.8Yoneda K. Morita E. Akiyama M. et al.Annular epidermolytic ichthyosis.Br J Dermatol. 1999; 141: 748-750Crossref PubMed Scopus (7) Google Scholar Keratin gene variants affecting the residues at the ends of the central rod domains of the keratin proteins (helix initiation and termination motifs), such as the variant c.467G>A (p.Arg156His) in the 1A rod domain found in our patient (case 2), interfere with proper keratin intermediate filament assembly and function, resulting in skin fragility and/or hyperkeratosis. Although this pathogenic variant has previously been reported in patients with major forms of EI,10Arin M.J. Oji V. Emmert S. et al.Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.Br J Dermatol. 2011; 164: 442-447Crossref PubMed Scopus (61) Google Scholar to our knowledge, our patient is the first to show an AEI phenotype. Only 2 different keratin (KRT) 1 (KRT1) gene pathogenic variants resulting in the AEI phenotype have been reported to date3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar, 4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar, 5Michael E.J. Schneiderman P. Grossman M.E. et al.Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Exp Dermatol. 1999; 8: 501-503Crossref PubMed Scopus (20) Google Scholar: c.1435A>T; p.(Ile479Phe) and c.1436T>C; p.(Ile479Thr). Both pathogenic variants are located in the 2B segment of KRT1 and predict a change of amino acids located in the same codon (codon 479) in the highly conserved 2B helix-termination motif.3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar, 4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar, 5Michael E.J. Schneiderman P. Grossman M.E. et al.Epidermolytic hyperkeratosis with polycyclic psoriasiform plaques resulting from a mutation in the keratin 1 gene.Exp Dermatol. 1999; 8: 501-503Crossref PubMed Scopus (20) Google Scholar Interestingly, the c.1436T>C; (p.Ile479Thr) pathogenic variant has also been reported in multiple families with major forms of EI,3Sybert V.P. Francis J.S. Corden L.D. et al.Cyclic ichthyosis with epidermolytic hyperkeratosis: a phenotype conferred by mutations in the 2B domain of keratin K1.Am J Hum Genet. 1999; 64: 732-738Abstract Full Text Full Text PDF PubMed Scopus (61) Google Scholar,10Arin M.J. Oji V. Emmert S. et al.Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis.Br J Dermatol. 2011; 164: 442-447Crossref PubMed Scopus (61) Google Scholar suggesting a lack of direct correlation between genotype and phenotype. Because 14 of the 16 previously reported cases occurred in children, no conclusions can be drawn about the course of the disease. Although nearly all patients show large blisters and erosions at birth, making them indistinguishable from those with major forms of EI, it seems that the degree of cutaneous involvement is considerably milder in AEI except for the palms and soles, which show progressive thickening in patients with KRT1 pathogenic variants. The variable phenotypic expression of similar KRT1 and KRT10 variants led us to hypothesize that patients with major forms of EI might have additional cis- or trans-regulatory changes affecting the expression of the wild-type allele. However, tissue expression studies are needed to further investigate this hypothesis. There is no definitive therapy for AEI. Symptomatic therapy includes daily use of emollients, topical keratolytics, and systemic retinoids, but treatment response varies considerably among patients and families.4Zaki T.D. Yoo K.Y. Kassardjian M. et al.A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.Pediatr Dermatol. 2018; 35: e414-e415Crossref PubMed Scopus (4) Google Scholar,6Joh G.Y. Traupe H. Metze D. et al.A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.J Invest Dermatol. 1997; 108: 357-361Abstract Full Text PDF PubMed Scopus (46) Google Scholar,8Yoneda K. Morita E. Akiyama M. et al.Annular epidermolytic ichthyosis.Br J Dermatol. 1999; 141: 748-750Crossref PubMed Scopus (7) Google Scholar Thus, although retinoid therapy is particularly effective in patients with KRT10 pathogenic variants, those with KRT1 variants may experience an exacerbation.11Virtanen M. Gedde-Dahl T. Mörk J.N. Leigh I. Bowden P.E. Vahlquist A. Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression.Acta Derm Venereol. 2001; 81: 163-170Crossref PubMed Scopus (69) Google Scholar In summary, we add to the phenotypic and genotypic findings of all reported cases of AEI, an extremely uncommon subtype of EI, and we add 2 new cases of AEI due to mutations in KRT1 and KRT10, respectively. The lack of genotype and phenotype correlation supports the idea that AEI is a milder phenotype of EI rather than a true subtype, an important fact that must be addressed when providing genetic counseling." @default.
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• W2997653242 title "Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation" @default.
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