147 results match your criteria Erythrokeratodermia Variabilis


Annular epidermolytic ichthyosis: a case report and literature review.

An Bras Dermatol 2020 May 5. Epub 2020 May 5.

Dermatology Service, Santa Casa de Misericórdia de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address:

Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who developed migratory, erythematous, scaly plaques associated with palmoplantar keratoderma. The initial hypothesis was erythrokeratodermia variabilis et progressiva; however, the finding of epidermolytic hyperkeratosis in histopathological examination led to the diagnosis of annular epidermolytic ichthyosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.abd.2019.09.030DOI Listing

Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.

Int J Dermatol 2020 Jun 20;59(6):722-725. Epub 2020 Apr 20.

Department of Dermatology, Faculdade de Medicina do ABC, Santo André, SP, Brazil.

Background: Erythrokeratodermas are a heterogeneous group of keratinization disorders. They are inherited in both autosomal dominant and autosomal recessive pattern. Erythrokeratoderma variabilis et progressive (EKVP) is a disorder caused by variations in genes that codify connexins (GJA1, GJB3, GJB4). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.14894DOI Listing

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Neurol Genet 2020 Apr 20;6(2):e403. Epub 2020 Feb 20.

Department of Medicine (M.B., L.S., N.D.), Faculty of Medicine, Université Laval; Division of Neurosciences (M.B., L.M., N.D.), CHU de Québec - Université Laval; Clinique Interdisciplinaire de Mémoire (L.S., R.L.), CHU de Québec; Laval University Experimental Organogenesis Research Center/LOEX (C.M., L.T.-D., F.G.-L.), Division of Regenerative Medicine, CHU de Québec Research Center - Enfant-Jésus Hospital; Montreal Neurological Institute (G.H., G.A.R.), McGill University, Québec, Canada; CHU Grenoble-Alpes (L.M.), Grenoble, France; CIUSSS de la Mauricie-et-du-Centre-du-Québec (K.L.), Trois-Rivières; Centre universitaire d'ophtalmologie (A.L.), Department of Surgery, Faculty of Medicine, CHU de Québec - Université Laval; and Centre Mère-Enfant-Soleil (N.C.), Université Laval, Québec, Canada.

Objective: To better characterize the neurologic and cognitive profile of patients with spinocerebellar ataxia 34 (SCA34) caused by mutations and to demonstrate the presence of ELOVL4 cellular localization and distribution abnormalities in skin-derived fibroblasts.

Methods: We investigated a 5-generation French-Canadian kindred presenting with a late-onset cerebellar ataxia and recruited age- and education-matched controls to evaluate the presence of neurocognitive impairment. Immunohistochemistry of dermal fibroblasts derived from a patient's skin biopsy was performed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073455PMC

Erythrokeratodermia variabilis with hypertrichosis on the lesions.

Chin Med J (Engl) 2020 Feb;133(4):501-502

Department of Dermatology, Dermatology Hospital, Southern Medical University, Guangzhou, Guangdong 510091, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/CM9.0000000000000633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7046247PMC
February 2020

Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation.

J Dermatol 2020 Apr 7;47(4):e111-e113. Epub 2020 Jan 7.

Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.15206DOI Listing

Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva.

Indian J Dermatol Venereol Leprol 2020 Jan-Feb;86(1):87-90

Department of Dermatology, Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijdvl.IJDVL_926_18DOI Listing
December 2019

Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.

J Dermatol 2020 Jan 9;47(1):e30-e31. Epub 2019 Oct 9.

Department of Geriatric and Environmental Dermatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.15110DOI Listing
January 2020

The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.

J Invest Dermatol 2020 Mar 26;140(3):556-567.e9. Epub 2019 Aug 26.

Departments of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Robert H. Lurie Comprehensive Cancer Center, Northwestern University, Chicago, IL, USA. Electronic address:

An effective epidermal barrier requires structural and functional integration of adherens junctions, tight junctions, gap junctions (GJ), and desmosomes. Desmosomes govern epidermal integrity while GJs facilitate small molecule transfer across cell membranes. Some patients with severe dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome, caused by biallelic desmoglein 1 (DSG1) mutations, exhibit skin lesions reminiscent of erythrokeratodermia variabilis, caused by mutations in connexin (Cx) genes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2019.08.433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7039747PMC
March 2020
2 Reads

[Progressive symmetric erythrokeratodermia: Activating mutations of TRPM4].

Authors:
O Dereure

Ann Dermatol Venereol 2019 Sep 26;146(8-9):600-601. Epub 2019 Jul 26.

Département de dermatologie et Unité Inserm U1058, hôpital Saint-Eloi, université Montpellier I, 80, avenue Augustin-Fliche, 34295 Montpellier cedex 5, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2019.06.003DOI Listing
September 2019

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.

Br J Dermatol 2020 Jan 28;182(1):208-211. Epub 2019 Jul 28.

Department of Dermatology, Maastricht University Medical Center, Maastricht, the Netherlands.

We report the unique case of a 3-year-old girl who presented with linear erythematosquamous lesions following the lines of Blaschko, suggestive of genetic mosaicism in the skin. Single-candidate gene analyses were performed on DNA from blood, excluding Conradi-Hünermann-Happle syndrome, erythrokeratodermia variabilis and a mosaic presentation of pityriasis rubra pilaris. With whole-exome sequencing (WES) on DNA from the patient's blood, a heterozygous missense mutation in exon 25 of the ABCA12 gene was detected. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.18216DOI Listing
January 2020
8 Reads

Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.

Mol Genet Genomic Med 2019 06 29;7(6):e670. Epub 2019 Mar 29.

Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, China.

Background: Erythrokeratodermia variabilis et progressiva (EKVP, OMIM 133200) is a rare hereditary disorder characterized by varies from transient, fast moving erythema to persistent brown hyperkeratotic plaques. Recently, mutations in the genes gap junction alpha 1 gene (GJA1), GJB3, and GJB4 have been reported to cause EKVP. Here, we report the identification of two de novo missense mutations in the GJA1 gene in two unrelated individuals with EKVP. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.670DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565561PMC
June 2019
5 Reads

Chronic symmetrically distributed hyperpigmented plaques in a middle-age woman.

JAAD Case Rep 2019 Mar 27;5(3):249-251. Epub 2019 Feb 27.

Department of Dermatology at the Medical College of Georgia at Augusta University, Augusta, Georgia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jdcr.2018.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6396089PMC
March 2019
2 Reads

Connexin43 mutations linked to skin disease have augmented hemichannel activity.

Sci Rep 2019 01 10;9(1):19. Epub 2019 Jan 10.

Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY, 11794, USA.

Mutations in the gene (GJA1) encoding connexin43 (Cx43) are responsible for several rare genetic disorders, including non-syndromic skin-limited diseases. Here we used two different functional expression systems to characterize three Cx43 mutations linked to palmoplantar keratoderma and congenital alopecia-1, erythrokeratodermia variabilis et progressiva, or inflammatory linear verrucous epidermal nevus. In HeLa cells and Xenopus oocytes, we show that Cx43-G8V, Cx43-A44V and Cx43-E227D all formed functional gap junction channels with the same efficiency as wild-type Cx43, with normal voltage gating and a unitary conductance of ~110 pS. Read More

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41598-018-37221-2
Publisher Site
http://dx.doi.org/10.1038/s41598-018-37221-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328547PMC
January 2019
35 Reads

A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive.

Chin Med J (Engl) 2019 Jan;132(1):86-88

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/CM9.0000000000000011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6629316PMC
January 2019
6 Reads
1.016 Impact Factor

A20 and ABIN1 Suppression of a Keratinocyte Inflammatory Program with a Shared Single-Cell Expression Signature in Diverse Human Rashes.

J Invest Dermatol 2019 06 10;139(6):1264-1273. Epub 2018 Dec 10.

Department of Dermatology, University of California, San Francisco and Veterans Affairs Medical Center, San Francisco, California, USA. Electronic address:

Genetic variation in the NF-κB inhibitors, ABIN1 and A20, increase risk for psoriasis. While critical for hematopoietic immune cell function, these genes are believed to additionally inhibit psoriasis by dampening inflammatory signaling in keratinocytes. We dissected ABIN1 and A20's regulatory role in human keratinocyte inflammation using an RNA sequencing-based comparative genomic approach. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2018.10.046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642632PMC
June 2019
8 Reads

Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.

J Invest Dermatol 2019 05 5;139(5):1089-1097. Epub 2018 Dec 5.

Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing, China. Electronic address:

Transient receptor potential (TRP) channels respond to various chemical and physical stimuli by mediating cation influx. The skin expresses abundant TRP channels of different subtypes, which play an essential role in the maintenance of skin functionality. Here, we report cases of mutations in TRPM4, which encodes TRPM4, a Ca-activated monovalent cation channel, as a cause of an autosomal dominant form of progressive symmetric erythrokeratodermia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2018.10.044DOI Listing
May 2019
5 Reads

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

Haematologica 2019 05 22;104(5):1036-1045. Epub 2018 Nov 22.

NIHR BioResource, Cambridge University Hospitals, Cambridge Biomedical Campus, UK

Sphingolipids are fundamental to membrane trafficking, apoptosis, and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for sphingolipid synthesis, and pathogenic mutations in result in the severe skin disorder Four of the eight reported cases also had thrombocytopenia but the underlying mechanism has remained unexplored. Here we expand upon the phenotypic spectrum of KDSR deficiency with studies in two siblings with novel compound heterozygous variants associated with thrombocytopenia, anemia, and minimal skin involvement. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3324/haematol.2018.204784DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6518879PMC
May 2019
12 Reads

A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.

Pediatr Dermatol 2018 Nov 28;35(6):e414-e415. Epub 2018 Aug 28.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

Annular epidermolytic ichthyosis (AEI; Online Mendelian Inheritance in Man [OMIM]# 607602) is a rare subtype of epidermolytic ichthyosis that is characterized by polycyclic, migratory erythematous and scaly plaques. It typically results from dominant mutations in the keratin 1 or keratin 10 genes. We present the case of a 5-year-old girl who developed intermittent eruptions of pink, round, scaly, migratory plaques with palmoplantar keratoderma and was originally diagnosed with erythrokeratodermia variabilis et progressiva (EKVP). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pde.13643DOI Listing
November 2018
11 Reads
1.520 Impact Factor

Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva.

Australas J Dermatol 2019 Feb 10;60(1):e87-e89. Epub 2018 Jul 10.

Department of Dermatology & STD, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ajd.12887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585696PMC
February 2019
8 Reads

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.

Exp Dermatol 2019 10 10;28(10):1106-1113. Epub 2018 May 10.

Department of Life Sciences, School of Health and Life Sciences, Glasgow Caledonian University, Glasgow, UK.

Erythrokeratodermia variabilis et progressiva (EKV-P) is caused by mutations in either the GJB3 (Cx31) or GJB4 genes (Cx30.3). We identified a rare GJB3 missense mutation, c. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/exd.13542DOI Listing
October 2019
10 Reads

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

Ann Hum Genet 2018 Jan 17;82(1):23-34. Epub 2017 Oct 17.

Laboratório de Otorrinolaringologia/LIM32, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brasil.

We investigated 313 unrelated subjects who presented with hearing loss to identify the novel genetic causes of this condition in Brazil. Causative GJB2/GJB6 mutations were found in 12.7% of the patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ahg.12213DOI Listing
January 2018
15 Reads

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of and is allelic with dominant monilethrix.

J Med Genet 2017 03 13;54(3):186-189. Epub 2016 Dec 13.

Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.

Background: Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although a few cases exhibit apparent autosomal recessive inheritance.

Objective: To identify the gene underlying autosomal recessive PSEK in a large Pakistani kindred. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2016-104107DOI Listing
March 2017
16 Reads
6.335 Impact Factor

Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva.

J Invest Dermatol 2017 04 24;137(4):967-970. Epub 2016 Nov 24.

Department of Dermatology, Keio University School of Medicine, Tokyo, Japan. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jid.2016.11.016DOI Listing
April 2017
16 Reads

Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.

Acta Derm Venereol 2017 03;97(3):399-401

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2553DOI Listing
March 2017
19 Reads

Erythrokeratodermia variabilis et progressiva.

J Dermatol 2016 Mar;43(3):280-5

Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan.

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare inherited skin disease characterized by fixed hyperkeratotic plaques and transient erythematous patches. EKVP is most often transmitted in an autosomal dominant manner. Causal mutations were found in the GJB3, GJB4 and GJA1 genes encoding connexins 31, 30. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.13220DOI Listing
March 2016
8 Reads

Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family?

J Dermatol 2016 Jul 30;43(7):830-1. Epub 2016 Jan 30.

Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.13277DOI Listing
July 2016
3 Reads

Herpes simplex virus in erythrokeratoderma variabilis.

Dermatol Online J 2016 Dec 15;22(12). Epub 2016 Dec 15.

Ronald O. Perelman Department of Dermatology, NYU School of Medicine, NYU Langone Medical Center.

We report a 48 -year-old woman witherythrokeratoderma variabilis, which is a rarehereditary disorder of keratinization, who developednew, painful, blisters within her skin lesions. Thediagnosis of herpes simplex virus infection was madebased on the clinical history and histopathologicfeatures. She was successfully treated withprophylactic valacyclovir, and her herpetic outbreakshave halted. Read More

View Article

Download full-text PDF

Source
December 2016
9 Reads

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

Acta Derm Venereol 2016 May;96(4):557-9

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2340/00015555-2307DOI Listing
May 2016
11 Reads

Case of erythrokeratodermia variabilis successfully treated with oral vitamin A.

J Dermatol 2015 Nov 18;42(11):1124-5. Epub 2015 Aug 18.

Department of Dermatology, Integrated Health Sciences, Institute of Biomedical and Health Sciences, Hiroshima University, Hiroshima, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/1346-8138.13056DOI Listing
November 2015
12 Reads

Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

Hum Mol Genet 2015 Nov 6;24(21):6054-65. Epub 2015 Aug 6.

Institute of Precision Medicine, the Third Xiangya Hospital, and the State Key Laboratory of Medical Genetics,

Mutations in connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis (EKV). The pathogenic mechanism of EKV-associated Cx31 mutants remains largely elusive. Here, we show that EKV-pathogenic Cx31 mutants are un/misfolded and temperature sensitive. Read More

View Article

Download full-text PDF

Source
http://hmg.oxfordjournals.org/content/early/2015/08/26/hmg.d
Web Search
http://hmg.oxfordjournals.org/content/early/2015/08/05/hmg.d
Web Search
http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
Publisher Site
http://dx.doi.org/10.1093/hmg/ddv317DOI Listing
November 2015
15 Reads

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

JAMA Neurol 2015 Jul;72(7):797-805

Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Bunkyo, Tokyo, Japan.

Importance: Although mutations in 26 causative genes have been identified in the spinocerebellar ataxias (SCAs), the causative genes in a substantial number of families with SCA remain unidentified.

Objective: To identify the causative gene of SCA in 2 Japanese families with distinct neurological symptoms and radiological presentations.

Design, Setting, And Participants: Clinical genetic study at a referral center of 11 members from 2 Japanese families, which started in 1997. Read More

View Article

Download full-text PDF

Source
http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
Publisher Site
http://dx.doi.org/10.1001/jamaneurol.2015.0610DOI Listing
July 2015
48 Reads

Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.

J Invest Dermatol 2015 Jun;135(6):1475-1478

INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Imagine Institute for Genetic Diseases, Paris, France; University Paris Descartes, Sorbonne Paris Cité, Paris, France; Department of Genetics, Necker Enfants Malades Hospital, Paris, France. Electronic address:

Erythrokeratodermia variabilis et progressiva (EKVP) is a genodermatosis with clinical and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S0022202X153726
Publisher Site
http://dx.doi.org/10.1038/jid.2014.535DOI Listing
June 2015
16 Reads

The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.

Br J Dermatol 2015 Jul 28;173(1):309-11. Epub 2015 May 28.

Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466-8550, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjd.13641DOI Listing
July 2015
3 Reads

Can you identify the genodermatosis?

Actas Dermosifiliogr 2015 Oct 12;106(8):667-8. Epub 2014 Dec 12.

Servicio de Dermatología, Hospital de Navarra, Complejo Hospitalario de Navarra, Pamplona, Navarra, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ad.2014.11.002DOI Listing
October 2015
7 Reads

[Saying no].

Ann Dermatol Venereol 2014 Dec 13;141(12):790-8. Epub 2014 Oct 13.

30, avenue Victor-Cresson, 92130 Issy-les-Moulineaux, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2014.09.022DOI Listing
December 2014
10 Reads

Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.

J Invest Dermatol 2015 Jun 14;135(6):1540-1547. Epub 2014 Nov 14.

Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA. Electronic address:

Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by transient figurate patches of erythema, localized or generalized scaling, and frequent palmoplantar keratoderma. By using exome sequencing, we show that de novo missense mutations in GJA1 (gap junction protein alpha 1) cause EKVP. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jid.2014.485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430428PMC
June 2015
43 Reads

Radiotherapy for breast cancer and erythrokeratodermia variabilis.

Cancer Radiother 2014 Dec 8;18(8):767-9. Epub 2014 Oct 8.

Département d'oncologie radiothérapie, Institut Curie, 26, rue d'Ulm, 75248 Paris cedex 05, France.

We report the first case report indicating that locoregional radiotherapy provide acceptable early and late toxicities in patient with erythrokeratodermia variabilis after 2 years of follow-up. However, preclinical data showing radiation-induced tumor genesis in case of deficiency of some connexins point out the need of a careful surveillance of these patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.canrad.2014.06.026DOI Listing
December 2014
3 Reads

Symmetrical erythematosquamous figurate plaques in a young man.

Clin Exp Dermatol 2014 Oct 5;39(7):850-1. Epub 2014 Sep 5.

Department of Dermatology, Tri-Service General Hospital, National Defence Medical Center, Taipei, Taiwan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ced.12418DOI Listing
October 2014
4 Reads

Progressive symmetric erythrokeratoderma with dermatophytosis.

Indian J Dermatol Venereol Leprol 2014 Jul-Aug;80(4):345-7

Department of Dermatology, Jinling Hospital, Nanjing University, School of Medicine, Nanjing, China.

View Article

Download full-text PDF

Source
http://www.ijdvl.com/text.asp?2014/80/4/345/136917
Publisher Site
http://dx.doi.org/10.4103/0378-6323.136917DOI Listing
April 2015
9 Reads

No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum.

Int J Dermatol 2014 Sep 25;53(9):1111-3. Epub 2014 Jun 25.

Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China; Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui, China; State Key Laboratory of Dermatology Incubation, Ministry of Science and Technology, Hefei, Anhui, China.

Objective: Progressive symmetric erythrokeratodermia (PSEK) is characterized by symmetric and growing erythematous hyperkeratotic patches over the body shortly after birth, particularly trunk and limbs, the buttocks, and the face, sometimes together with palmoplantar keratoderma (PPK). The GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR gene mutation might contribute to PSEK manifestation. This study aimed to identify sequence alteration of these genes in a Chinese PSEK patient with pseudoainhum. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.12494DOI Listing
September 2014
17 Reads

Both low-dose arotinoid ethylester and acitretin are effective in the treatment of familial erythrokeratodermia variabilis.

Dermatol Ther 2014 Jul-Aug;27(4):240-3. Epub 2014 Apr 22.

Department of Dermatology, No.1 Hospital of China Medical University, Shenyang, China.

We previously reported a large Chinese pedigree of erythrokeratodermia variabilis (EKV). A unique feature was that some of the affected members experienced transitory pustules on the border of classic lesions. Here we prescribed oral arotinoid ethylester and acitretin to two of the affected members in the pedigree, at starting dosage of 0. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dth.12127DOI Listing
April 2015
69 Reads

Progressive symmetric erythrokeratoderma: report of an Indian family.

Int J Dermatol 2014 May 6;53(5):e317-9. Epub 2014 Mar 6.

Department of Dermatology, venereology and leprosy, Rabindra Nath Tagore Medical College, Udaipur, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijd.12334DOI Listing
May 2014
9 Reads

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.

JAMA Neurol 2014 Apr;71(4):470-5

Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Notre Dame Hospital, University of Montreal, Montreal, Quebec, Canada.

Importance: The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of neurodegenerative disorders with significant genetic heterogeneity. Despite the identification of 20 SCA genes, the cause of the disorder in a significant proportion of families with SCA remains unexplained. In 1972, a French-Canadian family segregating a combination of SCA and erythrokeratodermia variabilis (EKV) in an autosomal dominant fashion was described. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaneurol.2013.6337DOI Listing
April 2014
54 Reads

Erythrokeratodermia variabilis: Two case reports.

Indian Dermatol Online J 2013 Oct;4(4):340-3

Department of Pathology, Faculty of Medicine, Yuzuncu Yil University, Van, Turkey.

Erythrokeratodermia variabilis (EKV) is a rare heterogeneous skin disorder. The classical EKV first described by Mendes da Costa is characterized by two types of skin lesions: (1) figurate hyperkeratotic plaques, and (2) transient erythematous areas. Herein, we report two patients presenting with erythematous and hyperkeratotic lesions that were histopathologically diagnosed with EKV. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/2229-5178.120674DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853906PMC
October 2013
6 Reads

[Clinicopathologic analysis on symmetric acral keratoderma].

Zhonghua Bing Li Xue Za Zhi 2013 Aug;42(8):549-50

E-mail:

View Article

Download full-text PDF

Source
August 2013
11 Reads

Progressive symmetrical erythrokeratodermia -- case report.

An Bras Dermatol 2013 Jan-Feb;88(1):109-12

Naval Hospital Marcílio Dias (Hospital Naval Marcílio Dias - HNMD), Rio de Janeiro (RJ), Brazil.

Progressive symmetrical erythrokeratodermia is a rare autosomal dominant genodermatosis with variable penetrance described by Darier in 1911. It is characterized by erythematous and keratotic plaques, sharply defined and symmetrically distributed along the extremities, buttocks and, more rarely, on the face. We report a case of a 55-year-old patient with lesions on the dorsum of the hands, interphalangeal pads, wrists, groin and back feet. Read More

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699941PMC
http://dx.doi.org/10.1590/s0365-05962013000100016DOI Listing
December 2013
13 Reads

[Erythrokeratodermia variabilis].

Ann Dermatol Venereol 2013 Feb 9;140(2):129-33. Epub 2013 Jan 9.

Service de dermatologie, centre hospitalier Victor-Dupouy, 69, rue du Lieutenant-Colonel-Prudhon, 95100 Argenteuil, France.

Background: Erythrokeratodermia variabilis (EKV) is a rare genodermatosis associated with keratinisation disorders. Mutations are found in genes encoding connexin 31 and 30.3 mapped to chromosome 1 p34-35. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.annder.2012.12.006DOI Listing
February 2013
72 Reads