161 results match your criteria Erythrokeratodermia Variabilis

Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review.

Am J Case Rep 2022 Feb 24;23:e935393. Epub 2022 Feb 24.

Department of Biological and Geographical Sciences, University of Huddersfield, Huddersfield, United Kingdom.

BACKGROUND Annular epidermolytic ichthyosis is a rare form of epidermolytic ichthyosis caused by specific pathogenic variants of KRT1 and KRT10. Classically, it manifests at birth with variable degrees of erythroderma and superficial erosions, which subsequently improve with time. Later, it is characterized by a cyclic history of annular hyperkeratotic erythematous plaques over the trunk and proximal extremities, with or without palmoplantar keratoderma. Read More

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February 2022

Interrogation of Carboxy-Terminus Localized Variants Associated with Erythrokeratodermia Variabilis et Progressiva.

Int J Mol Sci 2022 Jan 1;23(1). Epub 2022 Jan 1.

Department of Anatomy and Cell Biology, University of Western Ontario, London, ON N6A 5C1, Canada.

Although inherited (encoding Cx43) gene mutations most often lead to oculodentodigital dysplasia and related disorders, four variants have been linked to erythrokeratodermia variabilis et progressiva (EKVP), a skin disorder characterized by erythematous and hyperkeratotic lesions. While two autosomal-dominant EKVP-linked mutations have been shown to lead to augmented hemichannels, the consequence(s) of keratinocytes harboring a de novo P283L variant alone or in combination with a de novo T290N variant remain unknown. Interestingly, these variants reside within or adjacent to a carboxy terminus polypeptide motif that has been shown to be important in regulating the internalization and degradation of Cx43. Read More

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January 2022

Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.

Exp Dermatol 2022 04 7;31(4):594-599. Epub 2021 Nov 7.

Department of Dermatology, Shanghai Skin Disease Hospital, School of Medicine, Tongji University, Shanghai, China.

Erythrokeratodermia variabilis et progressiva (EKVP) is a rare genodermatosis of clinical and genetic heterogeneity, characterized by the manifestations of localized or disseminated persistent hyperkeratotic plagues and stationary to migratory transient erythematous patches. The majority of EKVP cases display an autosomal dominant mode of inheritance with incomplete penetrance, although recessive transmission has also been described. Mutations associated with EKVP have been primarily detected in connexin (Cx) genes. Read More

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Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.

PLoS One 2021 20;16(10):e0258777. Epub 2021 Oct 20.

Department of Dermatology, Genodermatosis and Cancers Laboratory LR12SP03, Habib Thameur Hospital, Tunis, Tunisia.

Erythrokeratodermia variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3. Genetic heterogeneity of EKV has already been suggested. Read More

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November 2021

Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.

Indian J Dermatol Venereol Leprol 2021 Jan-Feb;88(1):132

Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing, China.

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[Diagnosis and progress in the progressive symmetric erythrokeratodermia].

H J Wang Z M Lin

Zhonghua Yi Xue Za Zhi 2021 Apr;101(16):1128-1131

Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.

Progressive symmetric erythrokeratodermia (PSEK) comprises a group of clinically and genetically heterogeneous diseases. Previous research have identified 3 and 4 as the leading genetic causes of this disorder. With the rapid development of genetics, 1, , 83 and 4 have been identified as the new causative genes for PSEK, leading to a further understanding of its clinical features and genetic mechanisms. Read More

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The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.

Int J Mol Sci 2021 Mar 5;22(5). Epub 2021 Mar 5.

Biology Department, SUNY Buffalo State, 1300 Elmwood Ave, Buffalo, NY 14222, USA.

Glycine is an amino acid with unique properties because its side chain is composed of a single hydrogen atom. It confers conformational flexibility to proteins and conserved glycines are often indicative of protein domains involving tight turns or bends. All six beta-type connexins expressed in human epidermis (Cx26, Cx30, Cx30. Read More

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Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Iran J Public Health 2020 Nov;49(11):2128-2135

Department of Genetics, Tehran Medical Branch, Islamic Azad University, Tehran, Iran.

Background: Hearing loss (HL) is one of the most common heterogeneous congenital disabilities worldwide. Gap junction protein β-3 () gene encodes Connexin31 protein (Cx31). The hereditary type of hearing impairment in this gene are known to cause both autosomal recessive and autosomal dominant form. Read More

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November 2020

Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.

J Lipid Res 2021 6;62:100030. Epub 2021 Feb 6.

Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA; Dean A. McGee Eye Institute, Oklahoma City, OK, USA. Electronic address:

Lipids play essential roles in maintaining cell structure and function by modulating membrane fluidity and cell signaling. The fatty acid elongase-4 (ELOVL4) protein, expressed in retina, brain, Meibomian glands, skin, testes and sperm, is an essential enzyme that mediates tissue-specific biosynthesis of both VLC-PUFA and VLC-saturated fatty acids (VLC-SFA). These fatty acids play critical roles in maintaining retina and brain function, neuroprotection, skin permeability barrier maintenance, and sperm function, among other important cellular processes. Read More

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MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.

J Eur Acad Dermatol Venereol 2021 May 6;35(5):e345-e347. Epub 2021 Jan 6.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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Annular epidermolytic ichthyosis: a case report and literature review.

An Bras Dermatol 2020 Jul - Aug;95(4):484-489. 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

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Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.

Am J Med Genet A 2020 08 25;182(8):1933-1938. Epub 2020 May 25.

Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan.

Pathogenic germline variants in the gap junction protein alpha 1 (GJA1) gene have been identified in several congenital disorders affecting cutaneous, skeletal, and cardiac tissues. Here, we describe a 12-year-old patient with a GJA1 c.113G>A, p. Read More

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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

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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

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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.

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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.

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Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.

J Hum Genet 2020 Apr 7;65(4):397-410. Epub 2020 Jan 7.

Department of Dermatology, CHU La Rabta Tunis, 1007, Tunis, Tunisia.

Molecular diagnosis of rare inherited palmoplantar keratoderma (PPK) is still challenging. We investigated at the clinical and genetic level a consanguineous Tunisian family presenting an autosomal dominant atypical form of transgrediens and progrediens PPK to better characterize this ultrarare disease and to identify its molecular etiology. Whole-exome sequencing (WES), filtering strategies, and bioinformatics analysis have been achieved. Read More

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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.

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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.

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January 2020

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

J Invest Dermatol 2020 03 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

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A Case of Erythrokeratodermia Variabilis in Korean.

Ann Dermatol 2019 Aug 1;31(Suppl):S49-S51. Epub 2019 Jul 1.

Department of Dermatology, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea.

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[Progressive symmetric erythrokeratodermia: Activating mutations of TRPM4].

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:

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September 2019

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.

Br J Dermatol 2020 01 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

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January 2020

Pluripotent stem cell-derived bile canaliculi-forming hepatocytes to study genetic liver diseases involving hepatocyte polarity.

J Hepatol 2019 08 6;71(2):344-356. Epub 2019 Apr 6.

Department of Biomedical Sciences of Cells and Systems, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address:

Background & Aims: Hepatocyte polarity is essential for the development of bile canaliculi and for safely transporting bile and waste products from the liver. Functional studies of autologous mutated proteins in the context of the polarized hepatocyte have been challenging because of the lack of appropriate cell models. The aims of this study were to obtain a patient-specific hepatocyte model that recapitulated hepatocyte polarity and to employ this model to study endogenous mutant proteins in liver diseases that involve hepatocyte polarity. Read More

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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

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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.

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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

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January 2019

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.

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January 2019

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

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