57 results match your criteria Vohwinkel Syndrome


What's the resolutive surgery for pseudo-ainhum in Vohwinkel syndrome? A case report and review of the literature.

Orthop Rev (Pavia) 2020 Dec 1;12(4):8868. Epub 2021 Feb 1.

Department of Orthopaedic Surgery (DICHIRONS), Università degli Studi di Palermo.

Vohwinkel Syndrome, also known as Keratoderma Hereditarium Mutilans, is an extremely rare dominant autosomal keratosis. It typically presents with "starfish" keratoses on the knuckles, palmoplantar keratoderma (PPK), hearing impairment and mutilating digital constriction bands (pseudoainhum) that cause strangulation, often leading to autoamputation of the affected digit. Both medical and surgical treatment haven't shown to date consistent results, in the treatment of pseudoainhum. Read More

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December 2020

A heterozygous mutation in GJB2 (Cx26F142L) associated with deafness and recurrent skin rashes results in connexin assembly deficiencies.

Exp Dermatol 2020 10 22;29(10):970-979. Epub 2020 Sep 22.

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

Mutations in GJB2 encoding Connexin 26 (CX26) are associated with hearing loss and hyperproliferative skin disorders of differing severity including keratitis-ichthyosis-deafness (KID) and Vohwinkel syndrome. A 6-year-old Caucasian girl who presented with recurrent skin rashes and sensorineural hearing loss harboured a heterozygous point mutation in GJB2 (c.424T > C; p. Read More

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October 2020

Classical Vohwinkel syndrome with heterozygous p.Asp66His mutation in GJB2 gene: Second Asian case.

J Dermatol 2020 Oct 23;47(10):e352-e354. Epub 2020 Jul 23.

Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

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October 2020

Recombination-induced revertant mosaicism in ichthyosis with confetti and loricrin keratoderma.

Authors:
Toshifumi Nomura

J Dermatol Sci 2020 Feb 31;97(2):94-100. Epub 2019 Dec 31.

Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan. Electronic address:

Revertant mosaicism refers to a condition in which a pathogenic germline mutation is spontaneously corrected in somatic cells, resulting in the presence of two or more cell populations with different genotypes in an organism arising from a single fertilized egg. If the revertant cells are clonally expanded due to a survival advantage over the surrounding mutant cells, patients benefit from this self-healing phenomenon which leads to the development of milder-than-expected clinical phenotypes; in genetic skin diseases, patients with revertant mosaicism present with small islands of healthy skin. To date, revertant mosaicism has been reported in ∼50 genetic diseases involving the skin, blood, liver, muscle, and brain. Read More

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February 2020

Somatic recombination underlies frequent revertant mosaicism in loricrin keratoderma.

Life Sci Alliance 2019 02 4;2(1). Epub 2019 Feb 4.

Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.

Revertant mosaicism is a phenomenon in which pathogenic mutations are rescued by somatic events, representing a form of natural gene therapy. Here, we report on the first evidence for revertant mosaicism in loricrin keratoderma (LK), an autosomal dominant form of ichthyosis caused by mutations in on 1q21.3. Read More

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February 2019

G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome.

J Dermatol 2019 Feb 19;46(2):154-157. Epub 2018 Dec 19.

Department of Dermatology, The First Affiliated Hospital of Huzhou University, Huzhou, China.

Vohwinkel syndrome (VS) is a rare autosomal dominant condition, also known as mutilating palmoplantar keratoderma accompanied by sensorineural deafness. The LOR and GJB2 genes are reported to be responsible for VS. The GJB2 gene encodes connexin 26, a component of intercellular gap junctions expressed in various tissues. Read More

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February 2019

Loricrin palmoplantar keratoderma: full-thickness skin grafting for pseudoainhum.

Authors:
M Zamiri S Watson

Clin Exp Dermatol 2019 Jun 27;44(4):444-446. Epub 2018 Sep 27.

Department of Plastic Surgery, Canniesburn Unit, Glasgow Royal Infirmary, Glasgow, UK.

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Vohwinkel syndrome: ichthyosiform variant in a family.

An Bras Dermatol 2018 Sep-Oct;93(5):723-725

Department of Dermatology, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre (RS), Brazil.

Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured areas. Family evaluation revealed that his mother and other family members were affected. Read More

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October 2018

Ainhum - A Rare Case Report.

J Clin Diagn Res 2016 Apr 1;10(4):PD17-8. Epub 2016 Apr 1.

Assistant Professor, Department of General Surgery, Mahatma Gandhi Medical College & Research Institute, Sri Balaji Vidyapeeth , Pondicherry, India .

The term 'AINHUM' is derived from the African word meaning 'to saw or cut'. True ainhum otherwise called dactylolysis spontanea is a condition involving soft tissue or digits with constricting rings commonly presenting in fifth toes, usually bilateral. It is to be differentiated from Pseudo-ainhum that occurs secondary to some hereditary and nonhereditary diseases that lead to annular constriction of digits. Read More

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Using a Distant Abdominal Skin Flap to Treat Digital Constriction Bands: A Case Report for Vohwinkel Syndrome.

Medicine (Baltimore) 2016 Feb;95(6):e2762

From the Department of Plastic Surgery, Peking Union Medical College Hospital, Beijing (MZ, KS, YW); Department of Neurosurgery, Qingdao Huangdao District Hospital of Traditional Chinese Medicine, Qingdao, Shandong (ND); and Department of Dermatology, Peking Union Medical College Hospital, Beijing, China (CS).

In this study, a Vohwinkel syndrome case is presented where in 5th digit constriction bands in the right hand were reconstructed using a distant abdominal skin flap. Vohwinkel syndrome, or keratoderma hereditarium mutilans, is a rare, autosomal dominant genetic skin condition that causes palmoplantar hyperkeratosis and constricts finger and/or toe bands. In a typical manifestation, the finger and toe constriction bands lead to progressive strangulation and autoamputation, which requires immediate clinical treatment. Read More

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February 2016

A Deletion Mutation of the Connexin 26 (Gjb2) Gene in a Turkish Patient with Vohwinkel Syndrome .

Genet Couns 2016;27(2):187-91

Vohwinkel syndrome (VS), also known as keratoderma hereditaria mutilans, is a rare keratinization genetic disorder characterized by palmoplantar keratoderma, skeletal dysmorphisms and varying degrees of sensorineural deafness. Its mode of inheritance is autosomal-dominant, with mutations in loricrin and connexin 26 (GJB2) genes that manifest during infancy and boceme more evident during adulthood. We herein report a case of VS in a 23-year-old female exhibiting sensorineural hearing loss, palmar keratoderma and homozygous deletion mutation delE120 (c. Read More

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[Ainhum and "African acral keratoderma": three cases].

Ann Dermatol Venereol 2015 Mar 23;142(3):170-5. Epub 2015 Jan 23.

Service de dermatologie, hôpital Saint-Louis, AP-HP, 1, avenue Claude-Vellefaux, 75010 Paris, France. Electronic address:

Background: Ainhum, or spontaneous dactylitis, involves the formation of a gradual constriction in the digital-plantar fold of the fifth toe that leads, after several years, to autoamputation of the digit. This condition is classically distinguished from "true" ainhum, of unknown aetiology and affecting only subjects of African origin, from "pseudo-ainhum", resulting from different causes such as inflammatory constriction or constriction by a foreign body, and finally from ainhumoid palmoplantar keratoderma, which is of genetic origin and occurs for instance in Vohwinkel syndrome. Herein, we report three cases of ainhum in women of sub-Saharan African origin; in addition, all three subjects were also presenting various forms of hyperkeratosis of the hands and feet known to primarily affect subjects of African origin. Read More

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Reversal of pseudo-ainhum with acitretin in Camisa's syndrome.

Indian J Dermatol Venereol Leprol 2014 Nov-Dec;80(6):572-4

Department of Dermatology, Venereology and Leprosy, Grant Government Medical College, Mumbai, Maharashtra, India.

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Two novel mutations in the LOR gene in three families with loricrin keratoderma.

Br J Dermatol 2015 Apr 9;172(4):1158-62. Epub 2015 Mar 9.

Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany.

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A novel microdeletion in LOR causing autosomal dominant loricrin keratoderma.

Br J Dermatol 2015 Jan 9;172(1):262-4. Epub 2014 Dec 9.

Genetics and Genomic Medicine, UCL Institute of Child Health, 30 Guilford St, London, WC1N 1EJ, U.K; Paediatric Dermatology, Great Ormond St Hospital for Children, London, U.K.

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January 2015

Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.

J Invest Dermatol 2015 Jan 22;135(1):170-180. Epub 2014 Aug 22.

Department of Biochemistry and Molecular Biology, University of Maryland School of Medicine, Baltimore, Maryland, USA; Department of Dermatology, University of Maryland School of Medicine, Baltimore, Maryland, USA; Department of Obstetrics and Gynecology and Reproductive Sciences, University of Maryland School of Medicine, Baltimore, Maryland, USA. Electronic address:

Keratodermas comprise a heterogeneous group of highly debilitating and painful disorders characterized by thickening of the skin with marked hyperkeratosis. Some of these diseases are caused by genetic mutation, whereas other forms are acquired in response to environmental factors. Our understanding of signaling changes that underlie these diseases is limited. Read More

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January 2015

Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.

J Cell Sci 2014 Apr 12;127(Pt 8):1751-64. Epub 2014 Feb 12.

Department of Physiology and Pharmacology, University of Western Ontario, London, ON N6A 5C1, Canada.

Connexin 30 (Cx30), a member of the large gap-junction protein family, plays a role in the homeostasis of the epidermis and inner ear through gap junctional intercellular communication (GJIC). Here, we investigate the underlying mechanisms of four autosomal dominant Cx30 gene mutations that are linked to hearing loss and/or various skin diseases. First, the T5M mutant linked to non-syndromic hearing loss formed functional gap junction channels and hemichannels, similar to wild-type Cx30. Read More

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Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.

An Bras Dermatol 2013 Nov-Dec;88(6 Suppl 1):206-8

Santa Casa de Misericórdia de Porto Alegre, Porto AlegreRS, Brazil.

Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis, which manifests in infants and becomes more evident in adulthood. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually on the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. Read More

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Overview of skin diseases linked to connexin gene mutations.

Int J Dermatol 2014 Feb 15;53(2):192-205. Epub 2013 May 15.

Clinical Dermatology, Private Practice, Valley Stream, NY, USA.

Mutations in skin-expressed connexin genes, such as connexins 26, 30, 30.3, 31, and 43, have been linked to several human hereditary diseases with multiple organ involvement. Mutations in connexin 26 are linked to diseases including Vohwinkel syndrome, keratitis-ichthyosis deafness, and hystrix-like ichthyosis deafness syndromes, palmoplantar keratoderma with deafness, deafness with Clouston-like phenotype, and Bart-Pumphrey syndrome. Read More

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February 2014

[Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2013 Apr;30(2):203-6

Guangzhou Institute of Dermatology, Guangdong 510095, P.R. China.

Objective: To detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome.

Methods: Polymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls. Read More

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[Vohwinkel syndrome. Hearing loss and keratoderma on the hands and feet].

HNO 2013 Jul;61(7):617-9

Hals-, Nasen-, Ohrenklinik und Poliklinik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz.

The combination of sensorineural hearing loss and keratoderma on the hands and feet is rare. We report the case of a child that failed newborn hearing screening and also showed keratoderma on both hands and feet. The child's father exhibited the same constellation of symptoms, which is typical for mutilating keratoderma with deafness (Vohwinkel syndrome). Read More

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The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.

Biochim Biophys Acta 2013 Jan 13;1828(1):167-78. Epub 2012 Jul 13.

Department of Physiology, University of California, Los Angeles, CA 90095, USA.

Defects in several different connexins have been associated with several different diseases. The most common of these is deafness, where a few mutations in connexin (Cx) 26 have been found to contribute to over 50% of the incidence of non-syndromic deafness in different human populations. Other mutations in Cx26 or Cx30 have also been associated with various skin phenotypes linked to deafness (palmoplanta keratoderma, Bart-Pumphrey syndrome, Vohwinkel syndrome, keratitis-ichthyosis-deafness syndrome, etc. Read More

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January 2013

A new variant of Vohwinkel syndrome: a case report.

Dermatol Online J 2011 Mar 15;17(3). Epub 2011 Mar 15.

Department of Dermatology, Razi skin hospital, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome. Read More

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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

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A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome.

Br J Dermatol 2011 Jan;164(1):197-9

Department of Dermatology, Maastricht University Medical Center, PO Box 5800, 6202 AZ Maastricht, The Netherlands.

Gap junctions are intercellular channels which are permeable to ions and small molecules up to about 1 kDa in size. They are prominent in the skin, but their precise function there is largely unknown. Mutations in skin-expressed gap junction genes disrupt epidermal growth and differentiation. Read More

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January 2011

Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.

Am J Med Genet A 2010 Jul;152A(7):1798-802

Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Medical Center Freiburg, Freiburg, Germany.

About one to three of a 1,000 neonates are afflicted at birth with a serious hearing impairment, with about half of the cases due to genetic causes. Genetic causes of hearing impairment are very heterogeneous. About half of all cases of genetically caused nonsyndromic hearing loss can be ascribed to mutations in the GJB2 gene (connexin 26) and to deletions in the GJB6 gene(connexin 30). Read More

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