48 results match your criteria Vohwinkel Syndrome
J Dtsch Dermatol Ges 2017 Jun;15(6):665-667
Department of Dermatology, Federal University of Bahia, Brazil.
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
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
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
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
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.
Br J Dermatol 2015 Apr 9;172(4):1158-62. Epub 2015 Mar 9.
Institute of Human Genetics, University Medical Center Freiburg, Freiburg, Germany.
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.
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
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
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
Indian J Dermatol Venereol Leprol 2013 Sep-Oct;79(5):725
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
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
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
Indian J Dermatol Venereol Leprol 2012 Sep-Oct;78(5):640-2
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
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
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
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
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
Int J Dermatol 2010 Jan;49(1):79-82
Unit of Plastic Surgery, University of Padua, Padua, Italy.
Background: Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood. Patients with this mutation present hyperkeratosis of the palms and soles, constricting bands of the digits, usually at the fifth, and starfish-shaped hyperkeratosis on the dorsal aspects of the hands and feet. The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ainhum). Read More
J Biol Chem 2010 May 17;285(21):16184-94. Epub 2010 Mar 17.
Department of Dermatology, Faculty of Medicine, Kagawa University, Kagawa 761-0793, Japan.
Loricrin is a major constituent of the epidermal cornified cell envelope. Recently, heterozygous loricrin gene mutations have been identified in two dominantly inherited skin diseases, Vohwinkel syndrome with ichthyosis and progressive symmetric erythrokeratoderma, collectively termed loricrin keratoderma. We generated stable HaCaT cell lines that express wild-type (WT) loricrin and a mutant form found in Vohwinkel syndrome with ichthyosis, using an ecdysone-inducible promoter system. Read More
Seizure 2010 Mar 19;19(2):129-31. Epub 2010 Jan 19.
Hospital Torrecardenas, Neurology and Neurophysiology Unit, Almeria, Spain.
Vohwinkel Syndrome (VS) is a type of diffuse hereditary palmoplantar keratodermas (DHPPK) accompanied by skeletal dimorphisms and sensorineural deafness. The most frequently reported genetic substrate in VS is a point mutation of GJB2 gene, responsible for encoding connexin 26, a gap-junction protein with a crucial role in neuronal migration in rats. We report the case of a 21-year-old male who is a second-generation member of a family with VS and developed cryptogenic focal epilepsy. Read More
Expert Rev Mol Med 2009 Nov 19;11:e35. Epub 2009 Nov 19.
Department of Physiology and Biophysics, Stony Brook University Medical Center, Stony Brook, New York 11794-8661, USA.
Gap junctions allow the exchange of ions and small molecules between adjacent cells through intercellular channels formed by connexin proteins, which can also form functional hemichannels in nonjunctional membranes. Mutations in connexin genes cause a variety of human diseases. For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis-ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix-ichthyosis deafness syndrome and Bart-Pumphrey syndrome. Read More
J Hand Surg Eur Vol 2009 Apr 12;34(2):235-7. Epub 2009 Mar 12.
Canniesburn Plastic Surgery Unit, Glasgow Royal Infirmary, Glasgow UK.
Keratoderma hereditarium mutilans, or Vohwinkel syndrome, is a very rare genetic skin condition which causes palmoplantar hyperkeratosis and constricting rings of the fingers and toes. Approximately 50 cases have been reported in the literature with only three having been managed surgically. All three had a high rate of recurrence and unfavourable results in the long term. Read More
Am J Med Genet A 2009 Feb;149A(4):685-8
Unit of Audiology, Department of Neurosciences, University of Naples Federico II, Naples, Italy.
The GJB2 gene located on chromosome 13q12 and encoding the connexin 26 (Cx26) protein, a transmembrane protein involved in cell-cell attachment of almost all tissues, including the skin, causes autosomal recessive and sometimes dominant nonsyndromic sensorineural hearing loss. GJB2 mutations have also been identified in syndromic disorders exhibiting hearing loss associated with skin problems. Recently, a new mutation, p. Read More
J Med Genet 2008 Mar 9;45(3):161-6. Epub 2007 Nov 9.
Gap junctions are intercellular channels that mediate rapid intercellular communication. They consist of connexins, small transmembrane proteins that belong to a large family found throughout the animal kingdom. In the skin, several connexins are expressed and are involved in the regulation of epidermal growth and differentiation. Read More
Clin Genet 2008 Jan 22;73(1):85-8. Epub 2007 Oct 22.
Dermatol Online J 2006 Dec 10;12(7):10. Epub 2006 Dec 10.
Combined Military Hospital, Muzaffarabad, AJK, Pakistan.
Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare, diffuse, honeycombed, palmar and plantar keratosis usually accompanied by pseudoainhum near the distal interphalangeal creases. The syndrome is reported in three out of five siblings (two brothers and one sister), who developed this problem in early childhood. Read More
Acta Derm Venereol 2006 ;86(6):503-8
Department of Genetics and Pathology, University of Uppsala, Sweden.
Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. We report here two patients, one with KID and one with Vohwinkel syndrome. Read More
Australas J Dermatol 2005 Aug;46(3):127-41; quiz 142
Department of Dermatology, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.
The term 'erythrokeratodermas' or 'erythrokeratodermias' has been applied to a group of inherited disorders characterized by well-demarcated erythematous lesions and hyperkeratotic plaques. Connexin mutations have been demonstrated to be responsible for most cases of erythrokeratoderma variabilis but there remain some cases without demonstrated connexin mutations, suggesting genetic heterogeneity. The position of progressive symmetric erythrokeratoderma has become rather unclear. Read More
Hum Mutat 2005 Jul;26(1):60-1
Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium.
Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. Read More
J Invest Dermatol 2004 Nov;123(5):856-63
Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Bart-Pumphrey syndrome (BPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability. The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship. We report here a novel GJB2 mutation N54K segregating in a family with BPS, which was not detected in 110 control individuals of Northern European ancestry. Read More
J Invest Dermatol 2004 May;122(5):1108-13
Division of Dermatology, Department of Medicine, University of Washington, Seattle, WA, USA.
Connexins are integral membrane proteins forming aqueous gap junction channels that allow the diffusional exchange of ions and small metabolites between cells, thus coordinating metabolic activities in multicellular tissues. Dominant mutations in the Cx26 gene GJB2 have been shown to cause keratitis-ichthyosis-deafness (KID) syndrome, palmoplantar keratoderma associated with hearing loss, and Vohwinkel syndrome. Missense mutations in the closely related Cx30 gene GJB6 underlie Clouston syndrome (autosomal dominant hidrotic ectodermal dysplasia). Read More
J Invest Dermatol 2004 Apr;122(4):909-22
Dermatology and Metabolism (Medicine) Services, Veterans Affairs Medical Center, San Francisco, USA.
Although loricrin is the predominant protein of the cornified envelope (CE) in keratinocytes, loss or gain of loricrin function in mouse models produces only modest skin phenotypes. In contrast, insertional mutations resulting in a frameshift in the C-terminal domain of loricrin produce the characteristic ichthyosis of loricrin keratoderma in mouse and man. To ascertain the basis for the loricrin keratoderma phenotype, we assessed epidermal structure and stratum corneum (SC) function in a previously genotyped human loricrin keratoderma kindred. Read More
Cell Commun Adhes 2003 Jul-Dec;10(4-6):359-64
Division of Cancer Sciences and Molecular Pathology, University of Glasgow, Glasgow, Scotland, United Kingdom.
To elucidate the mode of action of dominant mutant connexins in causing inherited skin diseases, transgenic mice were produced that express the true Vohwinkel syndrome-associated mutant Cx26 (D66H), from a keratin 10 promoter, specifically in the suprabasal epidermal keratinocytes. Following birth, the transgenic mice developed keratoderma similar to that of human carriers of Cx26 (D66H). Expression of the transgene resulted in a loss of Cx26 and Cx30 at intercellular junctions of epidermal keratinocytes and accumulation of these connexins in the cytoplasm. Read More
Hum Mol Genet 2003 Jul;12(14):1737-44
Section of Squamous Cell Biology and Dermatology, Division of Cancer Sciences and Molecular Pathology, Robertson Building, University of Glasgow, Glasgow G12 8QQ, Scotland, UK.
To investigate the role of connexins in dominantly inherited skin disease, transgenic mice were produced which expressed mutant connexin 26 [gjb2/connexin 26(D66H)], from a keratin 10 promoter, exclusively in the suprabasal epidermis (the cells in which Connexin 26 is up-regulated in epidermal hyperproliferative states). From soon after birth, the mice exhibited a keratoderma similar to that in humans carrying the Connexin 26(D66H) mutation (true Vohwinkel syndrome). Transgene expression was associated with loss of Connexin 26 and Connexin 30 from epidermal keratinocyte intercellular junctions and accumulation in cytoplasm. Read More
Clin Exp Dermatol 2002 May;27(3):243-6
Stepping Hill Hospital, Stockport NHS Trust, UK.
Vohwinkel syndrome (VS) is a family of genodermatoses which exhibits extensive clinical and genetic heterogeneity. Here, we studied a pedigree originating from the UK with typical features of the ichthyotic variant of VS and identified a recurrent insertion mutation in the loricrin gene resulting in a mutant polypeptide with an unusual C terminus. Functional studies in transgenic mice have shown that the accumulation of mutant loricrin in the nucleus appears to interfere with the later stages of epidermal differentiation, thereby explaining the clinical manifestations of ichthyosis, keratoderma and pseudoainhum. Read More
Br J Dermatol 2001 Oct;145(4):657-60
Department of Dermatology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
A group of hereditary palmoplantar keratodermas due to heterozygous mutation in the loricrin gene has recently been identified. Of five reported pedigrees, four presented as mutilating keratoderma with ichthyosis (variant Vohwinkel syndrome), and one as progressive symmetric erythrokeratoderma. We report a new Japanese pedigree of loricrin keratoderma. Read More
Plast Reconstr Surg 2001 Oct;108(5):1276-80
Department of Plastic and Reconstructive Surgery, Gazi University, Medical Faculty, Ankara, Turkey.
J Invest Dermatol 2000 Dec;115(6):1088-94
Department of Dermatology, Asahikawa Medical College, Asahikawa, Japan.
Loricrin is a major constituent of the epidermal cornified cell envelope. We have recently identified heterozygous loricrin gene mutations in two dominantly inherited skin diseases, the ichthyotic variant of Vohwinkel syndrome and progressive symmetric erythrokeratoderma, collectively termed loricrin keratoderma. In order to see whether the mutant loricrin molecules predicted by DNA sequencing are expressed in vivo and to define their pathologic effects, we raised antibodies against synthetic peptides corresponding to the mutated sequences of loricrin. Read More
J Cell Biol 2000 Oct;151(2):401-12
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA.
Mutations in the cornified cell envelope protein loricrin have been reported recently in some patients with Vohwinkel syndrome (VS) and progressive symmetric erythrokeratoderma (PSEK). To establish a causative relationship between loricrin mutations and these diseases, we have generated transgenic mice expressing a COOH-terminal truncated form of loricrin that is similar to the protein expressed in VS and PSEK patients. At birth, transgenic mice (ML. Read More
J Hand Surg Br 1995 Jun;20(3):338-41
Department of Orthopaedics and Traumatology, Hopital Bichat, Paris, France.
Vohwinkel syndrome or hereditary mutilating keratodermatitis is a rare condition producing palmoplantar hyperkeratosis and constricting rings of the fingers and toes which can progress to compromise neurovascular function and mobility. Medical treatment with oral retinol derivatives is recommended when its use is not contra-indicated. This paper describes surgical correction of the constricting rings on both hands in a 33-year-old woman affected by this condition. Read More
Am J Med Genet 1994 Apr;50(2):201-3
Istituto di Genetica Medica, Università di Ferrara-Arcispedale S. Anna, Italy.
We describe a female patient with Vohwinkel syndrome (mutilating palmoplantar keratoderma), who in addition showed cleft lip and palate, microcephaly, facial asymmetry, and other anomalies. Read More
Neurologia 1992 Jan;7(1):39
Indian J Dermatol Venereol Leprol 1977 Jul-Aug;43(4):214-215
Ann Dermatol Syphiligr (Paris) 1975 ;102(1):41-5
Four cases of keratoma hereditaria mutilans (Vohwinkel syndrome) are reported in two families, whereas clinic, metabolic, radiologic, histologic and cytogenetic aspects, the association with other processes, and therapeutic possibilities. Read More