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    123 results match your criteria Erythrokeratodermia Variabilis

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    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


    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

    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

    Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.
    J Invest Dermatol 2015 Jun;135(6):1475-8
    1] INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Imagine Institute for Genetic Diseases, Paris, France [2] University Paris Descartes, Sorbonne Paris Cité, Paris, France [3] Department of Genetics, Necker Enfants Malades Hospital, Paris, France.
    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

    Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.
    J Invest Dermatol 2015 Jun 14;135(6):1540-7. Epub 2014 Nov 14.
    1] Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA [2] Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut, USA [3] Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.
    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

    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


    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

    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

    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

    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

    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

    [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

    Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.
    PLoS One 2012 29;7(2):e32531. Epub 2012 Feb 29.
    The State Key Laboratory of Medical Genetics, Xiangya Medical School, Central South University, Changsha, Hunan, China.
    Mutations in Connexin-31 (Cx31) are associated with multiple human diseases including erythrokeratodermia variabilis (EKV). The molecular action of Cx31 pathogenic mutants remains largely elusive. We report here that expression of EKV pathogenic mutant Cx31R42P induces cell death with necrotic characteristics. Read More

    Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3.
    Eur J Dermatol 2012 Mar-Apr;22(2):182-6
    Department of Genetics, Aghia Sophia Children's Hospital, Athens, Greece.
    Erythrokeratodermia variabilis (EKV) is characterized by migrating red patches resembling a geographical map, and by localized or generalized hyperkeratosis with scaling of the skin. The onset is usually at birth or during infancy, and the disease persists throughout life. EKV is mainly inherited as an autosomal dominant disease, although recessive transmission has occasionally been reported. Read More

    Connexins in epidermal homeostasis and skin disease.
    Biochim Biophys Acta 2012 Aug 10;1818(8):1952-61. Epub 2011 Sep 10.
    Queen Mary University of London, London, UK.
    The expression of multiple connexin (Cx) types in the epidermis, their differential expression during wound closure and the association of skin pathology with specific Cx gene mutations, are indicative of important functions for Cxs in the skin. In this review, we focus on the role of Cx proteins in the epidermis and during wound healing and discuss mutations in Cx genes which cause skin disease. This article is part of a Special Issue entitled: The Communicating junctions, composition, structure and characteristics. Read More

    p63 mediates an apoptotic response to pharmacological and disease-related ER stress in the developing epidermis.
    Dev Cell 2011 Sep;21(3):492-505
    Department of Pediatric Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA 02115, USA.
    Endoplasmic reticulum (ER) stress triggers tissue-specific responses that culminate in either cellular adaptation or apoptosis, but the genetic networks distinguishing these responses are not well understood. Here we demonstrate that ER stress induced in the developing zebrafish causes rapid apoptosis in the brain, spinal cord, tail epidermis, lens, and epiphysis. Focusing on the tail epidermis, we uncover an apoptotic response that depends on Puma, but not on p53 or Chop. Read More

    Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.
    Clin Exp Dermatol 2011 Jun;36(4):406-11
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
    Background: Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis.

    Aim: To identify the molecular basis of recessive EKV in a consanguineous family of Middle Eastern origin. Read More

    Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia.
    Clin Exp Dermatol 2011 Jun 24;36(4):399-405. Epub 2010 Dec 24.
    Department of Dermatology, Zhujiang Hospital, Nanfang Medical University, Guangzhou, China.
    Background: Progressive symmetrical erythrokeratodermia (PSEK) is a rare inherited cornification disorder characterized by symmetrical erythematous hyperkeratotic plaques. The genetic basis for PSEK is not clear. PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4. Read More

    Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis.
    Clin Exp Dermatol 2011 Jan;36(1):88-90
    Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
    Erythrokeratoderma variabilis (EKV) is characterized by fixed hyperkeratotic plaques and transient erythema. Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV. Read More

    Familial erythrokeratodermia variabilis with pustular lesions: a new variant?
    Acta Derm Venereol 2010 May;90(3):274-8
    State Key Department of Dermatology, No.1 Hospital of China Medical University, Shenyang 110001, China.
    We report here a Chinese family with erythrokeratodermia variabilis which had 30 affected members. The patients had characteristic clinical features of stationary and migratory lesions. Some of the patients had adult onset of the disease. Read More

    Erythrokeratoderma variabilis responding to low-dose isotretinoin.
    Pediatr Dermatol 2010 Jan-Feb;27(1):111-3
    Jawaharlal Institute of Postgraduate Medical Education and Research, Department of Dermatology and Sexually Transmitted Diseases, Pondicherry, India.
    A 2-year-old male child was diagnosed with erythrokeratoderma variabilis, and showed an excellent response to low-dose isotretinoin, with remarkable improvement in all the affected areas within just 2 weeks of treatment. Read More

    The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron.
    Am J Med Genet A 2009 Feb;149A(4):657-61
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands.
    Progressive symmetric erythrokeratoderma of Gottron (PSEK) is commonly distinguished from erythrokeratodermia variabilis Mendes da Costa (EKV). However, conclusive proof that the disorders are identical is still lacking. We performed mutation analysis and microsatellite haplotyping in two independently referred patients with PSEK and three patients from a previously published family with EKV. Read More

    Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex Dupré erythema.
    Rom J Morphol Embryol 2007 ;48(4):443-7
    Department of Pediatry, Filantropia University Hospital of Craiova, University of Medicine and Pharmacy of Craiova, Romania.
    Erythrokeratodermia represents a group of rare genetic diseases characterized through disorders of keratinization. Clinically, they are presenting themselves with erythematous and hyperkeratosic lesions that can be persistent or variable as to their aspect and localization. They were classified in erythrokeratodermia variabilis (EKV) and erythrokeratodermia symmetric progressive (EKSP). Read More

    The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV).
    Hum Mol Genet 2007 May 19;16(10):1216-24. Epub 2007 Apr 19.
    Institut für Genetik, Abteilung Molekulargenetik, Universität Bonn, Bonn 53117, Germany.
    Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant human genodermatosis. Its clinical appearance varies from transient, fast moving erythemas to persistent brown hyperkeratoses. So far, several mutations in the Cx31 or Cx30. Read More

    Erythrokeratodermia variabilis with adult onset: report of a sporadic case unresponsive to systemic retinoids.
    J Dermatolog Treat 2006 ;17(3):187-9
    Departments of DermatologyPathology, Gaziantep University Medical Faculty, Gaziantep, Turkey.
    Erythrokeratodermia variabilis is a rare autosomal-dominant genodermatosis characterized by migratory and erythematous patches changing over the course of hours to days, and fixed keratotic plaques. The disease begins mostly at birth or within the first year of life; it very rarely starts after childhood. We present herein a sporadic case with adult onset that was unusually resistant to both isotretinoin and acitretin. Read More

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