107 results match your criteria Vohwinkel Syndrome


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
9 Reads

MicroRNA dysregulation in lung injury: the role of the miR-26a/EphA2 axis in regulation of endothelial permeability.

Am J Physiol Lung Cell Mol Physiol 2018 Oct 19;315(4):L584-L594. Epub 2018 Jul 19.

Cardiovascular Pulmonary Research Laboratories, University of Colorado Denver Anschutz Medical Center , Aurora, Colorado.

MicroRNAs (miRNAs) are noncoding RNAs that regulate gene expression in many diseases, although the contribution of miRNAs to the pathophysiology of lung injury remains obscure. We hypothesized that dysregulation of miRNA expression drives the changes in key genes implicated in the development of lung injury. To test our hypothesis, we utilized a model of lung injury induced early after administration of intratracheal bleomycin (0. Read More

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October 2018
3 Reads

Immune checkpoints PVR and PVRL2 are prognostic markers in AML and their blockade represents a new therapeutic option.

Oncogene 2018 Sep 31;37(39):5269-5280. Epub 2018 May 31.

Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Immune checkpoints are promising targets in cancer therapy. Recently, poliovirus receptor (PVR) and poliovirus receptor-related 2 (PVRL2) have been identified as novel immune checkpoints. In this investigation we show that acute myeloid leukemia (AML) cell lines and AML patient samples highly express the T-cell immunoreceptor with Ig and ITIM domains (TIGIT) ligands PVR and PVRL2. Read More

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September 2018
14 Reads

Capturing the multifactorial nature of ARDS - "Two-hit" approach to model murine acute lung injury.

Physiol Rep 2018 Mar;6(6):e13648

Organ Protection Program, School of Medicine, Department of Anesthesiology, University of Colorado, Aurora, Colorado.

Severe acute respiratory distress syndrome (ARDS) presents typically with an initializing event, followed by the need for mechanical ventilation. Most animal models of ALI are limited by the fact that they focus on a singular cause of acute lung injury (ALI) and therefore fail to mimic the complex, multifactorial pathobiology of ARDS. To better capture this scenario, we provide a comprehensive characterization of models of ALI combining two injuries: intra tracheal (i. Read More

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March 2018
8 Reads

TGF-β inhibits alveolar protein transport by promoting shedding, regulated intramembrane proteolysis, and transcriptional downregulation of megalin.

Am J Physiol Lung Cell Mol Physiol 2017 Nov 13;313(5):L807-L824. Epub 2017 Jul 13.

Department of Internal Medicine, Justus Liebig University, Universities of Giessen and Marburg Lung Center, Giessen, Germany;

Disruption of the alveolar-capillary barrier is a hallmark of acute respiratory distress syndrome (ARDS) that leads to the accumulation of protein-rich edema in the alveolar space, often resulting in comparable protein concentrations in alveolar edema and plasma and causing deleterious remodeling. Patients who survive ARDS have approximately three times lower protein concentrations in the alveolar edema than nonsurvivors; thus the ability to remove excess protein from the alveolar space may be critical for a positive outcome. We have recently shown that clearance of albumin from the alveolar space is mediated by megalin, a 600-kDa transmembrane endocytic receptor and member of the low-density lipoprotein receptor superfamily. Read More

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November 2017
14 Reads

Restoration of Megalin-Mediated Clearance of Alveolar Protein as a Novel Therapeutic Approach for Acute Lung Injury.

Am J Respir Cell Mol Biol 2017 11;57(5):589-602

1 Department of Internal Medicine, Justus Liebig University, Universities of Giessen and Marburg Lung Center, Member of the German Center for Lung Research, Giessen, Germany.

Acute respiratory distress syndrome constitutes a significant disease burden with regard to both morbidity and mortality. Current therapies are mostly supportive and do not address the underlying pathophysiologic mechanisms. Removal of protein-rich alveolar edema-a clinical hallmark of acute respiratory distress syndrome-is critical for survival. Read More

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November 2017
19 Reads

Niedrig dosiertes Isotretinoin verhindert Amputation bei Loricrin-Palmoplantarkeratose (Vohwinkel-Syndrom mit Ichthyose).

J Dtsch Dermatol Ges 2017 Jun;15(6):664-666

Department of Dermatology, Federal University of Bahia, Brasilien.

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June 2017
5 Reads

Low-dose isotretinoin prevents digital amputation in loricrin keratoderma (Vohwinkel syndrome with ichthyosis).

J Dtsch Dermatol Ges 2017 Jun;15(6):665-667

Department of Dermatology, Federal University of Bahia, Brazil.

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June 2017
10 Reads

Combined inhibition of GLI and FLT3 signaling leads to effective anti-leukemic effects in human acute myeloid leukemia.

Oncotarget 2017 Apr;8(17):29187-29201

Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Activation of the Hedgehog pathway has been implicated in the pathogenesis of several tumor types including myeloid leukemia. Previously we demonstrated that overexpression of Hedgehog downstream mediators GLI1/2 confers an adverse prognosis to patients with acute myeloid leukemia (AML) and is correlated with a FLT3 mutated status. To analyze a possible non-canonical activation of the Hedgehog pathway via FLT3 and PI3K, we performed blocking experiments utilizing inhibitors for FLT3 (sunitinib), PI3K (PF-04691502) and GLI1/2 (GANT61) in FLT3-mutated and FLT3 wildtype AML cell lines and primary blasts. Read More

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April 2017
5 Reads

Detrimental ELAVL-1/HuR-dependent GSK3β mRNA stabilization impairs resolution in acute respiratory distress syndrome.

PLoS One 2017 14;12(2):e0172116. Epub 2017 Feb 14.

Department of Pediatrics, University of Colorado at Denver, Aurora, Colorado, United States of America.

A hallmark of acute respiratory distress syndrome (ARDS) is accumulation of protein-rich edema in the distal airspaces and its removal is critical for patient survival. Previous studies have shown a detrimental role of Glycogen Synthase Kinase (GSK) 3β during ARDS via inhibition of alveolar epithelial protein transport. We hypothesized that post-transcriptional regulation of GSK3β could play a functional role in ARDS resolution. Read More

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August 2017
7 Reads

Hydroxylation-independent HIF-1α stabilization through PKA: A new paradigm for hypoxia signaling.

Sci Signal 2016 May 31;9(430):fs11. Epub 2016 May 31.

Organ Protection Program, Department of Anesthesiology, University of Colorado School of Medicine, Aurora, CO, USA. Mucosal Inflammation Program, Department of Medicine, University of Colorado School of Medicine, Aurora, CO, USA.

In this issue of Science Signaling, Bullen et al demonstrate that protein kinase A (PKA) phosphorylates and stimulates the transcriptional activity of hypoxia-inducible transcription factor-1α (HIF-1α). This finding may have implications in diseases processes that occur at the interface of hypoxia and inflammation, where HIF-1α stabilization can function to dampen hypoxia-driven inflammation. Read More

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May 2016
3 Reads

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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April 2016
5 Reads

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
9 Reads

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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Deoxycytidine kinase is downregulated under hypoxic conditions and confers resistance against cytarabine in acute myeloid leukaemia.

Eur J Haematol 2016 Sep 28;97(3):239-44. Epub 2015 Dec 28.

Department of Oncology, Haematology and Bone Marrow Transplantation with section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Objectives: Leukaemia initiating cells reside within specialised niches in the bone marrow where they undergo complex interactions with different stromal cell types. The bone marrow niche is characterised by a low oxygen content resulting in high expression of hypoxia-inducible factor 1 α in leukaemic cells conferring a negative prognosis to patients with acute myeloid leukaemia (AML).

Methods And Results: In the current study, we investigated the impact of hypoxic vs. Read More

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September 2016
45 Reads

Acute respiratory distress syndrome following cardiovascular surgery: current concepts and novel therapeutic approaches.

Curr Opin Anaesthesiol 2016 Feb;29(1):94-100

aOrgan Protection Program, Department of Anesthesiology, University of Colorado School of Medicine, Aurora, Colorado, USA bDepartment of Anesthesiology and Comprehensive Pneumology Center Munich (CPC-M), German Center for Lung Research, University Hospital, Ludwig-Maximilians-University, Munich, Germany cDepartment of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.

Purpose Of Review: This review gives an update on current treatment options and novel concepts on the prevention and treatment of the acute respiratory distress syndrome (ARDS) in cardiovascular surgery patients.

Recent Findings: The only proven beneficial therapeutic options in ARDS are those that help to prevent further ventilator-induced lung injury, such as prone position, use of lung-protective ventilation strategies, and extracorporeal membrane oxygenation. In the future also new approaches like mesenchymal cell therapy, activation of hypoxia-elicited transcription factors or targeting of purinergic signaling may be successful outside the experimental setting. Read More

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February 2016
7 Reads

Pediatric occult methanol intoxication with hyperammonemia.

Am J Emerg Med 2016 Feb 18;34(2):343.e5-6. Epub 2015 Jun 18.

Denver Health and Hospitals, Rocky Mountain Poison and Drug Center, Denver, CO; Children's Hospital Colorado, Aurora, CO. Electronic address:

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February 2016
1 Read

Hypoxia signaling during acute lung injury.

J Appl Physiol (1985) 2015 Nov 14;119(10):1157-63. Epub 2015 May 14.

Organ Protection Program, Department of Anesthesiology, University of Colorado School of Medicine, Aurora, Colorado;

Acute lung injury (ALI) is an inflammatory lung disease that manifests itself in patients as acute respiratory distress syndrome and thereby contributes significantly to the morbidity and mortality of patients experiencing critical illness. Even though it may seem counterintuitive, as the lungs are typically well-oxygenated organs, hypoxia signaling pathways have recently been implicated in the resolution of ALI. For example, functional studies suggest that transcriptional responses under the control of the hypoxia-inducible factor (HIF) are critical in optimizing alveolar epithelial carbohydrate metabolism, and thereby dampen lung inflammation during ALI. Read More

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November 2015
1 Read

Olmsted syndrome: clinical, molecular and therapeutic aspects.

Orphanet J Rare Dis 2015 Mar 17;10:33. Epub 2015 Mar 17.

INSERM UMR 1163, Laboratory of Genetic skin diseases, Imagine Institute, 2nd floor, 24 bld du Montparnasse, 75015, Paris, France.

Olmsted syndrome (OS) is a rare genodermatosis classically characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma (PPK) and periorificial keratotic plaques, but which shows considerable clinical heterogeneity. The disease starts usually at birth or in early childhood. About 73 cases have been reported worldwide. Read More

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March 2015
1 Read

Expression of Hedgehog Pathway Mediator GLI Represents a Negative Prognostic Marker in Human Acute Myeloid Leukemia and Its Inhibition Exerts Antileukemic Effects.

Clin Cancer Res 2015 May 5;21(10):2388-98. Epub 2015 Mar 5.

Department of Oncology, Hematology and Bone Marrow Transplantation with Section Pneumology, Hubertus Wald University Cancer Center, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Purpose: The Hedgehog pathway plays an important role in stem-cell biology and malignant transformation. Therefore, we investigated the expression and prognostic impact of Hedgehog pathway members in acute myeloid leukemia (AML).

Experimental Design: Pretreatment samples from 104 newly diagnosed AML patients (AMLSG 07-04 trial) were analyzed by qPCR, and expression of Hedgehog family members was correlated with clinical outcome. Read More

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May 2015
9 Reads

[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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March 2015
10 Reads

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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May 2016
19 Reads
1 Citation
1.320 Impact Factor

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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April 2015
1 Read

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
2 Reads

Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.

PLoS One 2014 12;9(8):e104742. Epub 2014 Aug 12.

Hubertus Wald University Cancer Centre, Department of Oncology, Hematology and Bone Marrow Transplantation with section Pneumology, University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.

Backgrounds: The Loeys-Dietz syndrome (LDS) is an inherited connective tissue disorder caused by mutations in the transforming growth factor β (TGF-β) receptors TGFBR1 or TGFBR2. Most patients with LDS develop severe aortic aneurysms resulting in early need of surgical intervention. In order to gain further insight into the pathophysiology of the disorder, we investigated circulating outgrowth endothelial cells (OEC) from the peripheral blood of LDS patients from a cohort of 23 patients including 6 patients with novel TGF-β receptor mutations. Read More

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February 2016
38 Reads

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
1 Read

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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April 2014
1 Read

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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May 2014
7 Reads

Efficient gene delivery to primary alveolar epithelial cells by nucleofection.

Am J Physiol Lung Cell Mol Physiol 2013 Dec 27;305(11):L786-94. Epub 2013 Sep 27.

Dept. of Internal Medicine, Justus Liebig Univ., Universities of Giessen and Marburg Lung Center, Klinikstrasse 33, 35392 Giessen, Germany.

Primary alveolar epithelial cells play a pivotal role in lung research, particularly when focusing on gas exchange, barrier function, and transepithelial transport processes. However, efficient transfection of primary alveolar epithelial cells continues to be a major challenge. In the present study, we applied nucleofection, a novel method of gene and oligonucleotide delivery to the nucleus of cells by electroporation, to achieve highly efficient transfection of primary alveolar epithelial type II (ATII) cells. Read More

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December 2013
7 Reads

Hypercapnia impairs lung neutrophil function and increases mortality in murine pseudomonas pneumonia.

Am J Respir Cell Mol Biol 2013 Nov;49(5):821-8

1 Division of Pulmonary and Critical Care Medicine, Department of Medicine.

Hypercapnia, an elevation of the level of carbon dioxide (CO2) in blood and tissues, is a marker of poor prognosis in chronic obstructive pulmonary disease and other pulmonary disorders. We previously reported that hypercapnia inhibits the expression of TNF and IL-6 and phagocytosis in macrophages in vitro. In the present study, we determined the effects of normoxic hypercapnia (10% CO2, 21% O2, and 69% N2) on outcomes of Pseudomonas aeruginosa pneumonia in BALB/c mice and on pulmonary neutrophil function. Read More

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November 2013
4 Reads

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
2 Reads

[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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April 2013
4 Reads

[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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July 2013
2 Reads

Megalin mediates transepithelial albumin clearance from the alveolar space of intact rabbit lungs.

J Physiol 2012 Oct 23;590(20):5167-81. Epub 2012 Jul 23.

Department of Internal Medicine, Justus Liebig University, Universities of Giessen and Marburg Lung Center, Klinikstrasse 33, 35392 Giessen, Germany

The alveolo-capillary barrier is effectively impermeable to large solutes such as proteins. A hallmark of acute lung injury/acute respiratory distress syndrome is the accumulation of protein-rich oedema fluid in the distal airspaces. Excess protein must be cleared from the alveolar space for recovery; however, the mechanisms of protein clearance remain incompletely understood. Read More

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October 2012
8 Reads

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
2 Reads

Elevated CO(2) levels cause mitochondrial dysfunction and impair cell proliferation.

J Biol Chem 2011 Oct 8;286(43):37067-76. Epub 2011 Sep 8.

Division of Pulmonary and Critical Care Medicine, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA.

Elevated CO(2) concentrations (hypercapnia) occur in patients with severe lung diseases. Here, we provide evidence that high CO(2) levels decrease O(2) consumption and ATP production and impair cell proliferation independently of acidosis and hypoxia in fibroblasts (N12) and alveolar epithelial cells (A549). Cells exposed to elevated CO(2) died in galactose medium as well as when glucose-6-phosphate isomerase was knocked down, suggesting mitochondrial dysfunction. Read More

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October 2011
2 Reads

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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March 2011
5 Reads

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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June 2011
3 Reads

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
1 Read

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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July 2010
5 Reads

Vohwinkel syndrome: treatment of pseudo-ainhum.

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

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January 2010
5 Reads

Activation of vascular endothelial growth factor receptor 2 in a cellular model of loricrin keratoderma.

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

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May 2010
1 Read

Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations.

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

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March 2010
1 Read

Connexin-26 mutations in deafness and skin disease.

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

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November 2009
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TAE226-mediated inhibition of focal adhesion kinase interferes with tumor angiogenesis and vasculogenesis.

Invest New Drugs 2010 Dec 26;28(6):825-33. Epub 2009 Sep 26.

University Medical Center Hamburg-Eppendorf, Hubertus Wald University Cancer Center Hamburg, Dept. of Oncology/Hematology with sections BMT and Pneumology, Hamburg, Germany.

Neoangiogenesis plays an important role in tumor growth and metastasis. Evaluation of new anti-angiogenic targets may broaden the armament for future therapeutic concepts. Focal adhesion kinase (FAK), expressed in endothelial and tumor cells, is essential for adhesion and mobility of adherent cells. Read More

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December 2010
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