134 results match your criteria Erythrokeratodermia Variabilis


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

Connexin43 mutations linked to skin disease have augmented hemichannel activity.

Sci Rep 2019 Jan 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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http://www.nature.com/articles/s41598-018-37221-2
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http://dx.doi.org/10.1038/s41598-018-37221-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328547PMC
January 2019
9 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.

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http://dx.doi.org/10.1097/CM9.0000000000000011DOI Listing
January 2019
2 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 2018 Dec 10. 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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http://dx.doi.org/10.1016/j.jid.2018.10.046DOI Listing
December 2018
1 Read

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

Haematologica 2018 Nov 22. Epub 2018 Nov 22.

University of Leuven;

Sphingolipids are fundamental to membrane trafficking, apoptosis and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR result in the severe skin disorder erythrokeratodermia variabilis et progressiva-4. Four of the eight reported cases also had thrombocytopenia but the underlying mechanism has remained unexplored. Read More

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http://dx.doi.org/10.3324/haematol.2018.204784DOI Listing
November 2018
3 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

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http://dx.doi.org/10.1111/pde.13643DOI Listing
November 2018
6 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.

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http://dx.doi.org/10.1111/ajd.12887DOI Listing
February 2019
4 Reads

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

Exp Dermatol 2018 Mar 23. Epub 2018 Mar 23.

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

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http://dx.doi.org/10.1111/exd.13542DOI Listing
March 2018
5 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

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http://dx.doi.org/10.1111/ahg.12213DOI Listing
January 2018
8 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

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http://dx.doi.org/10.1136/jmedgenet-2016-104107DOI Listing
March 2017
9 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:

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http://dx.doi.org/10.1016/j.jid.2016.11.016DOI Listing
April 2017
9 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.

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http://dx.doi.org/10.2340/00015555-2553DOI Listing
March 2017
13 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

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http://dx.doi.org/10.1111/1346-8138.13220DOI Listing
March 2016
3 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.

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http://dx.doi.org/10.1111/1346-8138.13277DOI Listing
July 2016
1 Read

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

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December 2016
3 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.

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http://dx.doi.org/10.2340/00015555-2307DOI Listing
May 2016
6 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.

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http://dx.doi.org/10.1111/1346-8138.13056DOI Listing
November 2015
2 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

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http://hmg.oxfordjournals.org/content/early/2015/08/26/hmg.d
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http://hmg.oxfordjournals.org/content/early/2015/08/05/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddv
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http://dx.doi.org/10.1093/hmg/ddv317DOI Listing
November 2015
2 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

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2015.0610DOI Listing
July 2015
19 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

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X153726
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http://dx.doi.org/10.1038/jid.2014.535DOI Listing
June 2015
7 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.

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http://dx.doi.org/10.1111/bjd.13641DOI Listing
July 2015
1 Read

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.

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http://dx.doi.org/10.1016/j.ad.2014.11.002DOI Listing
October 2015
3 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:

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http://dx.doi.org/10.1016/j.annder.2014.09.022DOI Listing
December 2014
5 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

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http://dx.doi.org/10.1038/jid.2014.485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4430428PMC
June 2015
27 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

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http://dx.doi.org/10.1016/j.canrad.2014.06.026DOI Listing
December 2014
1 Read

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.

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http://dx.doi.org/10.1111/ced.12418DOI Listing
October 2014
2 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.

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http://www.ijdvl.com/text.asp?2014/80/4/345/136917
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http://dx.doi.org/10.4103/0378-6323.136917DOI Listing
April 2015
6 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

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http://dx.doi.org/10.1111/ijd.12494DOI Listing
September 2014
2 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

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http://dx.doi.org/10.1111/dth.12127DOI Listing
April 2015
34 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.

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http://dx.doi.org/10.1111/ijd.12334DOI Listing
May 2014
3 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

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http://dx.doi.org/10.1001/jamaneurol.2013.6337DOI Listing
April 2014
37 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

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

[Clinicopathologic analysis on symmetric acral keratoderma].

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

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August 2013
6 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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699941PMC
December 2013
8 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

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

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0032531PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3290583PMC
July 2012
2 Reads

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

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http://dx.doi.org/10.1684/ejd.2011.1617DOI Listing
June 2012
4 Reads

Visual diagnosis: a 10-year-old boy with a persistent rash since birth.

Pediatr Rev 2011 Nov;32(11):e102-4

University of Florida, Gainesville, FL, USA.

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http://dx.doi.org/10.1542/pir.32-11-e102DOI Listing
November 2011
2 Reads

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

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http://dx.doi.org/10.1016/j.bbamem.2011.09.004DOI Listing
August 2012
2 Reads

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

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http://dx.doi.org/10.1016/j.devcel.2011.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200231PMC
September 2011
5 Reads

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

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http://dx.doi.org/10.1111/j.1365-2230.2010.03986.xDOI Listing
June 2011
11 Reads