154 results match your criteria Erythrokeratodermia Variabilis

[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

View Article and Full-Text PDF

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

View Article and Full-Text PDF

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

View Article and Full-Text PDF
November 2020

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

J Lipid Res 2021 Feb 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

View Article and Full-Text PDF
February 2021

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

View Article and Full-Text PDF

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 and Full-Text PDF

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 and Full-Text PDF

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 and Full-Text PDF
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 and Full-Text PDF

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

View Article and Full-Text PDF

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 and Full-Text PDF

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 and Full-Text PDF
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

View Article and Full-Text PDF

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.

View Article and Full-Text PDF

[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:

View Article and Full-Text PDF
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

View Article and Full-Text PDF
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

View Article and Full-Text PDF

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 and Full-Text PDF

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 and Full-Text PDF

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 and Full-Text PDF
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.

View Article and Full-Text PDF
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

View Article and Full-Text PDF

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 and Full-Text PDF

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 and Full-Text PDF

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 and Full-Text PDF
November 2018

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 and Full-Text PDF
February 2019

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 and Full-Text PDF
October 2019

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 and Full-Text PDF
January 2018

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 and Full-Text PDF