Genomes and Genes
Summary: A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by erythroderma and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas.
Publications159 found, 100 shown here
- Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1V P Sybert
Departments of Pediatrics, University of Washington School of Medicine, Children s Hospital and Medical Center, Division of Dermatology, CH 25, 4800 Sand Point Way NE, P O Box 5371, Seattle, WA 98105, USA Julie S
Am J Hum Genet 64:732-8. 1999..b>Epidermolytic hyperkeratosis is a hallmark feature of light and electron microscopy...
- R156C mutation of keratin 10 causes mild form of epidermolytic hyperkeratosisKunitaka Haruna
Department of Dermatology, Juntendo University School of Medicine, Tokyo, Japan
J Dermatol 34:545-8. 2007..Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case.
- Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogsK M Credille
Comparative Dermatology Laboratory, Texas A and M University, College Station, TX, USA
Br J Dermatol 153:51-8. 2005b>Epidermolytic hyperkeratosis in humans is caused by dominant-negative mutations in suprabasal epidermal keratins 1 and 10. However, spontaneous keratin mutations have not been confirmed in a species other than human.
- A novel substitution in keratin 10 in epidermolytic hyperkeratosisM J Arin
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA
J Invest Dermatol 112:506-8. 1999b>Epidermolytic hyperkeratosis is characterized by tonofilament clumping, cytolysis, and blister formation in suprabasal keratinocytes...
- Keratin 1 and keratin 10 mutations causing epidermolytic hyperkeratosis in Chinese patientsXiu Kun Sun
Department of Dermatology, Peking University First Hospital, Beijing 100034, PR China
J Dermatol Sci 29:195-200. 2002b>Epidermolytic hyperkeratosis (EHK) is a rare dominantly inherited skin disorder with erythroderma and hyperkeratosis. Mutations have been found in keratin 1 (K1) or keratin 10 (K10) gene...
- Epidermolytic hyperkeratosis with ricketsSurajit Nayak
Department of Dermatology, M K C G Medical College, Berhampur, Orissa, India
Indian J Dermatol Venereol Leprol 72:139-42. 2006..On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 and calcium supplements orally...
- A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosisKelly A McGowan
Departments of Genetics, Stanford University School of Medicine, Beckman Center B281, Stanford, CA 94305 5323, USA
J Invest Dermatol 126:1013-6. 2006..We describe a Dsk mutant, Dsk12, which models the human disease, epidermolytic hyperkeratosis (EHK)...
- Epidermolytic hyperkeratosis in nevi. A possible marker for atypiaB T Williams
Department of Dermatology, University of California, Irvine, Orange 92668, USA
Am J Dermatopathol 18:156-8. 1996b>Epidermolytic hyperkeratosis (EH) has been described as a reaction pattern in a variety of solitary skin lesions. We have noted that EH seems to occur more frequently in association with atypical than with typical acquired nevi...
- Epidermolytic hyperkeratosis as an incidental finding in drug-induced acneSeok Jong Lee
J Dermatol 32:686-7. 2005
- Incidental epidermolytic hyperkeratosis and focal acantholytic dyskeratosis in common acquired melanocytic nevi and atypical melanocytic lesionsAngela C S Hutcheson
Center for Health Care Research and Department of Medicine, Pathology and Laboratory Medicine, Medical University of South Carolina, 96 Jonathan Lucas Street, Charleston, SC 29425, USA
J Am Acad Dermatol 50:388-90. 2004b>Epidermolytic hyperkeratosis (EH) and focal acantholytic dyskeratosis (FAD) are distinct histologic patterns that have been observed incidentally in a variety of benign and malignant skin lesions, including melanocytic lesions.
- Linear nevus comedonicus with epidermolytic hyperkeratosisAmy K Schecter
Department of Dermatology, Brown Medical School, Providence, RI 02903, USA
J Cutan Pathol 31:502-5. 2004Nevus comedonicus (NC) is rarely associated with the histopathologic pattern of follicular epidermolytic hyperkeratosis (EHK). We found eight cases reported...
- Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin DisordersRustin Ross
Department of Dermatology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903, USA
J Am Acad Dermatol 59:86-90. 2008The clinical condition generalized epidermolytic hyperkeratosis, also known as bullous congenital ichthyosiform erythroderma, is an autosomal dominant disorder and presents as a bullous disease of the newborn followed by an ichthyotic ..
- Epidermolytic hyperkeratosis within infundibular cystsChynna L Steele
University of Chicago, Section of Dermatology, Chicago, IL 60637, USA
J Cutan Pathol 34:360-2. 2007b>Epidermolytic hyperkeratosis (EH) is a well-described histopathologic pattern characteristic of bullous congenital ichthyosiform erythroderma, an autosomal dominant genodermatosis...
- Epidermolytic hyperkeratosis associated with melanocytic nevi: a report of 53 casesPhillip A Conlin
Department of Pathology, Texas Tech Medical Center, Lubbock, Texas 79430, USA
Am J Dermatopathol 24:23-5. 2002b>Epidermolytic hyperkeratosis (EH) is a unique histopathologic alteration of the skin characterized by hyperkeratosis with perinuclear vacuolization of keratinocytes primarily in the stratum granulosum and the stratum malpighii...
- Pathogenesis of the permeability barrier abnormality in epidermolytic hyperkeratosisM Schmuth
Internal Medicine, University of California, San Francisco, USA
J Invest Dermatol 117:837-47. 2001b>Epidermolytic hyperkeratosis is a dominantly inherited ichthyosis, frequently associated with mutations in keratin 1 or 10 that result in disruption of the keratin filament cytoskeleton leading to keratinocyte fragility...
- A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosisJ A Rothnagel
Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030
Hum Mol Genet 2:2147-50. 1993b>Epidermolytic hyperkeratosis (EHK), (bullous congenital ichthyosiform erythroderma), is an autosomal dominant human skin disorder...
- Keratin 9 gene mutations in five Korean families with epidermolytic palmoplantar keratodermaJoo Heung Lee
Department of Dermatology, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Korea
Exp Dermatol 12:876-81. 2003..Accordingly, these mutations compromise the structural integrity of the keratin intermediate filaments leading to the pathology of EPPK...
- Lessons from keratin transgenic and knockout miceT M Magin
Department of Molecular Genetics, University of Bonn, Germany
Subcell Biochem 31:141-72. 1998
- Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literatureT Basarab
St John s Institute of Dermatology, St Thomas Hospital, London SE1 7EH, U K
Br J Dermatol 140:689-95. 1999..Sequencing of genomic DNA revealed a mutation (E493K) in keratin 2e. A review of the literature on IBS indicates that E493K is the most commonly reported mutation to date and might represent a mutational hotspot for this disease...
- Enlightened therapy of the disorders of cornificationMary L Williams
Department of Dermatology, University of California School of Medicine, San Francisco 94143, USA
Clin Dermatol 21:269-73. 2003
- Phenotypes, genotypes and their contribution to understanding keratin functionRebecca M Porter
Cancer Research UK Cell Structure Research Group, School of Life Sciences, MSI WTB complex, University of Dundee, Dundee DD1 5EH, UK
Trends Genet 19:278-85. 2003..Evidence is emerging that the great diversity of keratins might be required to enable cells to adapt their structure in response to different signalling pathways...
- A patient with congenital ichthyosis hystrix (disseminated congenital naevus) and acute lymphoblastic leukaemiaW Y Au
Department of Medicine, Queen Mary Hospital, University of Hong Kong, 4 F, Professorial Block, Pokfulam Road, Hong Kong, People s Republic of China
Leuk Lymphoma 44:209-12. 2003..There are four reports of acute leukaemia complicating ichthyosis, all involving paediatric acute lymphoblastic leukaemia. The possible mechanisms involved are discussed...
- Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expressionM Virtanen
Department of Medical Sciences, Section of Dermatology, Uppsala University, Sweden
Acta Derm Venereol 81:163-70. 2001Dominant-negative mutations in the KRT1 and KRT10 genes cause epidermolytic hyperkeratosis, a rare form of ichthyosis sometimes associated with palmoplantar keratoderma...
- Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5Eli Sprecher
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, Israel
J Invest Dermatol 120:623-6. 2003..that are predicted to alter the tail of keratin 1 or keratin 5, leading to an atypical form of epidermolytic hyperkeratosis and a mild form of epidermolysis bullosa simplex, respectively...
- KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformationI Eerola
Laboratory of Human Molecular Genetics, Institute of Cellular Pathology ICP and Université Catholique de Louvain UCL, Avenue Hippocrate 75 4, B 1200 Brussels, Belgium
Hum Mol Genet 9:1351-5. 2000..Another novel mutation, KRIT1(IVS2+2(T-->C)), was found in a family with only cerebral capillary-venous malformations...
- Expression of transglutaminase 5 in normal and pathologic human epidermisEleonora Candi
Department of Experimental Medicine and Biochemical Sciences, University of Rome Tor Vergata, Italy
J Invest Dermatol 119:670-7. 2002..In Darier's disease, transglutaminase 5 expression, as well as transglutaminase 3, is completely missregulated, being overexpressed or totally absent in different areas of the same lesion...
- Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null miceJulia Reichelt
Institute of Physiological Chemistry and Bonner Forum Biomedizin, University of Bonn, Nussallee 11, 53115 Bonn, Germany
J Cell Sci 115:2639-50. 2002..While those experiments were performed in human cultured keratinocytes, our data establish, that in vivo, K10 acts by an indirect control mechanism in trans...
- HID and KID syndromes are associated with the same connexin 26 mutationM van Geel
Department of Dermatology, University Hospital Nijmegen, The Netherlands
Br J Dermatol 146:938-42. 2002..These disorders are distinguished mainly on the basis of electron microscopic findings. We hypothesized that KID and HID syndromes may be genetically related...
- The molecular genetics of keratin disordersFrances Smith
Epithelial Genetics Group, Human Genetics Unit, University of Dundee, Ninewells Hospital and Medical School, Dundee, UK
Am J Clin Dermatol 4:347-64. 2003..This review article describes the discovery of, to date, mutations in 18 keratin genes associated with inherited human diseases...
- A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythrodermaY Suga
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, USA
J Invest Dermatol 111:1220-3. 1998..Molecular analysis of this family revealed a novel mutation resulting in an isoleucine to threonine substitution at residue 107 (codon 446) within the highly conserved helix termination motif at the end of the rod domain of keratin 10...
- A glutamate to lysine mutation at the end of 2B rod domain of keratin 2e gene in ichthyosis bullosa of SiemensJ M Yang
Department of Dermatology, College of Medicine, Sungkyunkwan University, Samsung Medical Centre, Seoul, Republic of Korea
Acta Derm Venereol 78:417-9. 1998..is a rare autosomal dominant skin disorder whose clinical findings are quite similar to those of epidermolytic hyperkeratosis. The differences between those two diseases include absence of erythroderma and different distributions ..
- Inducible mouse models for inherited skin diseases: implications for skin gene therapyMeral J Arin
Department of Dermatology, University of Koln, Koln, Germany
Cells Tissues Organs 177:160-8. 2004..skin disorders, we generated inducible mouse models for two autosomal dominant keratin disorders, epidermolytic hyperkeratosis (EHK) and epidermolysis bullosa simplex (EBS), that enable activation of the respective mutation in ..
- A novel keratin 9 gene mutation (Met156Arg) in a Japanese patient with epidermolytic palmoplantar keratodermaKiyo Shimazu
Int J Dermatol 45:1128-30. 2006
- Ichthyosis bullosa of Siemens--a disease involving keratin 2eW H McLean
Department of Anatomy and Physiology, University of Dundee, U K
J Invest Dermatol 103:277-81. 1994..congenital ichthyosiform erythroderma (BCIE), there is a relatively mild involvement of the skin and epidermolytic hyperkeratosis (EHK) is restricted to the upper suprabasal layers of the epidermis...
- Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvementAndrea Math
Division of Immunology, Allergy and Infectious Diseases, Medical University of Vienna, Waehringer Guertel 18 20, A 1090 Vienna, Austria
Eur J Dermatol 16:507-10. 2006b>Epidermolytic hyperkeratosis (EHK) (OMIM 113800) is a generalized skin disease with mostly autosomal dominant inheritance, caused by mutations in keratin 1 or keratin 10...
- Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosisJ M Bonifas
Department of Dermatology, University of California School of Medicine, San Francisco
J Invest Dermatol 103:474-7. 1994..One of the histologic patterns underlying palmoplantar hyperkeratosis is that of epidermolytic hyperkeratosis. Because that histologic pattern has been found in its generalized form to be due to keratin gene ..
- A human keratin 10 knockout causes recessive epidermolytic hyperkeratosisFelix B Müller
Department of Dermatology, University of Cologne, 50924 Köln, Germany
Hum Mol Genet 15:1133-41. 2006b>Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait...
- Clinical and genetic heterogeneity of erythrokeratoderma variabilisJohn E A Common
Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, UK
J Invest Dermatol 125:920-7. 2005..These genetic studies further demonstrate the heterogeneous nature of the erythrokeratodermas as not all individuals that were clinically diagnosed with EKV harbor Cx31 or Cx30.3 mutations...
- Stratum corneum hydration and flexibility are useful parameters to indicate clinical severity of congenital ichthyosisYuki Tomita
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Exp Dermatol 14:619-24. 2005..We conclude that stratum corneum hydration, flexibility and thickness measured by the corneometer, and TEWL on the arm may be a useful indicator of the severity of ichthyosis phenotype...
- Epidermolytic hyperkeratosis with a rare digital contractureSudip Das
Department of Skin, STD and Leprosy, NRS Medical College and Hospital, Kolkata, India
Indian J Dermatol Venereol Leprol 73:280. 2007..Digital contracture with palmoplantar keratoderma was present. Histopathology showed characteristic vacuolar degeneration of the upper epidermis and suprabasilar keratinocytes with hyperkeratosis...
- Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testingM Akiyama
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo 060 8638, Japan
Br J Dermatol 152:1353-6. 2005..The present results indicate that IBS is not such a rare entity as was previously thought, and accurate diagnosis is now available by mutation analysis...
- A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilisS M Morley
Department of Dermatology, Ninewells Hospital, Dundee, UK
Br J Dermatol 152:1143-8. 2005..3, respectively. Twelve distinct mutations identified to date cluster either at the cytoplasmic amino-terminus or in the four transmembrane domains...
- A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratodermaReuven Bergman
Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion Israel, Institute of Technology, Haifa, Israel
Am J Dermatopathol 30:101-5. 2008..b>Epidermolytic hyperkeratosis (EHK) and epidermolytic palmoplantar keratoderma (Voerner type) (EPPK) are 2 types of autosomal ..
- A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythrodermaG Y Joh
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030, U S A
J Invest Dermatol 108:357-61. 1997..Histologic examination showed the typical pathology of epidermolytic hyperkeratosis, and ultrastructural analysis revealed abnormal keratin filament networks and tonofilament clumping ..
- A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratodermaH Endo
Department of Dermatology, Chiba University School of Medicine, Chuo Ku, Japan
J Invest Dermatol 109:113-5. 1997..autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic hyperkeratosis histologically...
- A novel threonine --> proline mutation at the end of 2B rod domain in the keratin 2e chain in ichthyosis bullosa of SiemensJ M Yang
Department of Dermatology, College of Medicine, Sungkyunkwan University, Kangnam Ku, Seoul, Republic of Korea
J Invest Dermatol 109:116-8. 1997....
- Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1O Tal
Department of Dermatology and Laboratory of Molecular Dermatology, Rambam Medical Center, Haifa, and Mohs Surgery Unit, Assuta Medical Center, Tel Aviv, Israel
Clin Exp Dermatol 30:64-7. 2005Mutations in the keratin 1 (KRT1) gene underlie epidermolytic hyperkeratosis (EHK). This autosomal dominant disorder is characterized by phenotypic heterogeneity...
- Keratins and skin disordersE B Lane
Cancer Research UK Cell Structure Research Group, Division of Cell and Developmental Biology, University of Dundee School of Life Sciences, MSI WTB complex, Dow Street, Dundee DD1 5EH, UK
J Pathol 204:355-66. 2004..This review article reflects on the variety of phenotypes arising from mutations in keratins and the reasons for this variation...
- Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE)W H McLean
Department of Anatomy and Physiology, University of Dundee, U K
J Invest Dermatol 102:24-30. 1994..Insertional polymorphism (in the V2 subdomains of the non-helical tails of K1 and K10) was excluded as the cause of the phenotypic heterogeneity observed within one family...
- Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosisM J Arin
Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030, USA
Exp Dermatol 9:16-9. 2000b>Epidermolytic hyperkeratosis (EHK) is a hereditary skin disorder typified by blistering due to cytolysis. One in 100,000 individuals is affected by this autosomal-dominant disease. The onset of the disease phenotype is typically at birth...
- Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 geneP B Cserhalmi-Friedman
Departments of Dermatology, and Genetics and Development, Columbia University, College of Physicians and Surgeons, New York 10032, USA
Clin Exp Dermatol 25:241-3. 2000b>Epidermolytic hyperkeratosis (EHK; bullous congenital ichthyosiform erythroderma) is a genodermatosis resulting from mutations in either the keratin 1 (K1) or keratin 10 (K10) genes...
- DNA-based prenatal exclusion of bullous congenital ichthyosiform erythroderma at the early stage, 10 to 11 weeks' of pregnancy, in two consequent siblingsYukiko Tsuji-Abe
Department of Dermatology at Hokkaido University Graduate School of Medicine, Sapporo, Japan
J Am Acad Dermatol 51:1008-11. 2004....
- Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophyChristine Liang
DNA Repair Section, National Cancer Institute, Bethesda, Maryland, USA
J Am Acad Dermatol 52:224-32. 2005..Tiger tail banding under polarizing light microscopy and hair shaft abnormalities are associated with trichothiodystrophy (TTD), a rare disorder with a wide spectrum of clinical presentations...
- Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12qJ G Compton
Skin Biology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Nat Genet 1:301-5. 1992We investigated the molecular genetics of epidermolytic hyperkeratosis (EHK), a dominant disorder characterized by epidermal blistering, hyperkeratosis, vacuolar degeneration and clumping of keratin filaments...
- Focal activation of a mutant allele defines the role of stem cells in mosaic skin disordersM J Arin
Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, Texas 77030, USA
J Cell Biol 152:645-9. 2001..basis of mosaicism, we established a mouse model for the autosomal-dominant skin blistering disorder, epidermolytic hyperkeratosis (MIM 113800), which is caused by mutations in either keratin K1 or K10...
- Impaired cutaneous permeability barrier function, skin hydration, and sphingomyelinase activity in keratin 10 deficient miceJ M Jensen
Department of Dermatology and Institute of Immunology, University of Kiel, Germany
J Invest Dermatol 115:708-13. 2000..cytokeratins 1 (K1) or 10 (K10) in humans have been shown to be the cause of the congenital ichthyosis epidermolytic hyperkeratosis. Recently, a K10 deficient mouse model was established serving as a model for epidermolytic ..
- Sequential reorganization of cornified cell keratin filaments involving filaggrin-mediated compaction and keratin 1 deiminationAkemi Ishida-Yamamoto
Department of Dermatology, Asahikawa Medical College, Midorigaoka Higashi Asahikawa, Japan
J Invest Dermatol 118:282-7. 2002..Abnormal keratin aggregation in bullous congenital ichthyosiform erythroderma is likely to disturb the normal deimination of K1...
- Retinoids in disorders of keratinization: their use in adultsR Happle
Department of Dermatology, University of Nijmegen, The Netherlands
Dermatologica 175:107-24. 1987..Papillomatous epidermal nevi should also be excluded because they do not respond to the drug. Hailey-Hailey disease may even be worsened by this treatment. According to our experience, oral retinoid therapy has no effect in monilethrix...
- Disorders of keratinization: diagnosis and managementTor Shwayder
Pediatric Dermatology, Henry Ford Hospital, Detroit, Michigan 48202 2689, USA
Am J Clin Dermatol 5:17-29. 2004..Throughout the article pearls from my practice are included to assist the clinician in the day-to-day handling of these patients. A short section on genetic counseling concludes this article...
- Structural changes in epidermal scale and appendages as indicators of defective TGM1 activityRobert H Rice
Department of Environmental Toxicology, University of California, One Shields Avenue, Davis, CA 95616 8588, USA
Arch Dermatol Res 297:127-33. 2005..visible in extracted epidermal scale from patients with ichthyosis vulgaris, loricrin keratoderma and epidermolytic hyperkeratosis.) Electron microscopy confirmed the paucity of intact CEs, and revealed further that hair cuticle cells ..
- Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from NorwayM Pigg
Department of Genetics and Pathology, University Hospital, Uppsala, Sweden
Eur J Hum Genet 6:589-96. 1998..The mutation was previously observed in one family with a resulting cDNA that included the entire intron 5. These results suggest that the mutation can result in variant transcripts in different individuals...
- Ichthyoses: differential diagnosis and molecular geneticsVinzenz Oji
Department of Dermatology, University Hospital, Von Esmarch Str 58, 48149 Munster, Germany
Eur J Dermatol 16:349-59. 2006..The different pathomechanisms causing ichthyosis provide a fascinating insight into the role of various proteins, enzymes, lipids and metabolic pathways involved in terminal epidermal differentiation/keratinisation...
- Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplexY M Chan
Department of Molecular Genetics and Cell Biology, Howard Hughes Medical Institute, University of Chicago, IL 60637
J Cell Sci 107:765-74. 1994..the genetic bases of two major classes of human skin diseases, epidermolysis bullosa simplex (EBS) and epidermolytic hyperkeratosis (EH)...
- Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratodermaJ A Rothnagel
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030
J Invest Dermatol 104:430-3. 1995..and tonofilament clumping like that found in the keratin disorders of epidermolysis bullosa simplex and epidermolytic hyperkeratosis. The disease has been mapped to chromosome 17q11-q23 in the region of the type 1 keratin gene locus and ..
- A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosisM C Bolling
Department of Dermatology, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands
Br J Dermatol 162:875-9. 2010Epidermolytic ichthyosis (EI), previously termed bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a clinically heterogeneous genodermatosis caused by mutations in the genes encoding the suprabasal keratins ..
- Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplexM F Jonkman
Department of Dermatology, University of Groningen, The Netherlands
J Invest Dermatol 107:764-9. 1996..The disorder was associated with circumscribed hyperkeratotic lesions with the histology of epidermolytic hyperkeratosis. The prognosis of keratin 14 ablation is much better in the human than in the mouse.
- Molecular advances in genetic skin diseasesDawn H Siegel
Department of Dermatology, University of California, San Francisco, California, USA
Curr Opin Pediatr 14:419-25. 2002..A study of the keratin 10 deficient mouse, a model for epidermolytic hyperkeratosis, and a mouse model for Bloom syndrome are reviewed in this article...
- The pathogenesis of severe congenital ichthyosis of the neonateM Akiyama
Division of Dermatology, Kitasato Institute Hospital, Tokyo, Japan
J Dermatol Sci 21:96-104. 1999..Mutations within the rod domain, not in the beginning or the end of the rod domain, of keratin 10 were reported in annular epidermolytic ichthyosis (AEI), the distinct subtype of bullous congenital ichthyosiform erythroderma...
- Organization of the human keratin type II gene cluster at 12q13S J Yoon
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461
Genomics 24:502-8. 1994..have now been implicated in three different human genetic disorders, epidermolysis bullosa simplex, epidermolytic hyperkeratosis, and epidermolytic palmoplantar keratoderma...
- Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlationA D Irvine
Department of Dermatology, Royal Victoria Hospital, Grosvenor Road, Belfast BT12 6BA, U K
Br J Dermatol 140:815-28. 1999..This article reviews clinical, ultrastructural and molecular aspects of all the keratin diseases described to date and delineates potential future areas of research in this field...
- Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e geneH Kremer
Department of Human Genetics, University Hospital Nijmegen, The Netherlands
J Invest Dermatol 103:286-9. 1994..located in the type II gene cluster and the expression of the gene coincides with the occurrence of epidermolytic hyperkeratosis. Sequence analysis revealed the presence of mutations in the K2e gene in patients with ichthyosis ..
- Immunoelectron microscopy links molecules and morphology in the studies of keratinizationA Ishida-Yamamoto
Department of Dermatology, Asahikawa Medical College, Midorigaoka Higashi 2 1 1 1 Asahikawa, 078 8510 Japan
Eur J Dermatol 10:429-35. 2000..Tonofilaments, a morphological hallmark of keratinocytes, are composed of keratins. Epidermolytic hyperkeratosis, a genetic disease of keratin K1/K10, shows clumped tonofilaments that are shown to be actually ..
- A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of SiemensA D Irvine
Department of Dermatology, Great Ormond Street Hospital for Children, London, UK
Clin Exp Dermatol 25:648-51. 2000..of Siemens (IBS; MIM: 146800) is an autosomal dominant disorder of keratinization characterized by epidermolytic hyperkeratosis without erythroderma...
- Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5N V Whittock
Department of Cell and Molecular Pathology, St John s Institute of Dermatology, London, United Kingdom
Biochem Biophys Res Commun 274:149-52. 2000..Mutations in K1 and K5 result in the autosomal dominant disorders epidermolytic hyperkeratosis/bullous congenital ichthyosiform erythroderma and epidermolysis bullosa simplex, respectively...
- Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosisE Fuchs
Howard Hughes Medical Institute, Department of Molecular Genetics and Cell Biology, University of Chicago, IL 60637
Proc Natl Acad Sci U S A 89:6906-10. 1992b>Epidermolytic hyperkeratosis (EH; previously called bullous congenital ichthyosiform erythroderma) is an autosomal dominant skin disease of unknown etiology, affecting approximately 1 out of 300,000 people...
- Induction of p38, tumour necrosis factor-α and RANTES by mechanical stretching of keratinocytes expressing mutant keratin 10R156HM Obarzanek-Fojt
Service of Dermatology and Venereology, CHUV Lausanne, CH 1011 Lausanne, Switzerland
Br J Dermatol 164:125-34. 2011b>Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma), characterized by ichthyotic, rippled hyperkeratosis, erythroderma and skin blistering, is a rare autosomal dominant disease caused by mutations in keratin 1 or ..
- Epidermolytic palmoplantar keratoderma of Vörner: re-evaluation of Vörner's original family and identification of a novel keratin 9 mutationWolfgang Kuster
TOMESA Clinic for Allergy, Skin and Joint Diseases, and Rheumatism, Bad Salzschlirf, Germany
Arch Dermatol Res 294:268-72. 2002..Histopathologically, he found epidermolytic hyperkeratosis as a characteristic sign and diagnostic criterion of this disorder...
- Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13Fabienne Lesueur
Centre National de Genotypage, Dermatologic Disease Projects, Evry, France
J Invest Dermatol 127:829-34. 2007....
- Clear (pale) cell acanthosis as an incidental findingChristine J Ko
Department of Dermatology, Yale University School of Medicine, New Haven, CT 06520, USA
J Cutan Pathol 36:573-7. 2009Different patterns of epidermal change, including epidermolytic hyperkeratosis and acantholytic dyskeratosis, may represent the predominant histopathologic finding in several localized and generalized processes...
- Keratin 8 phosphorylation by p38 kinase regulates cellular keratin filament reorganization: modulation by a keratin 1-like disease causing mutationNam On Ku
Department of Medicine, and Geriatric Research, Education and Clinical Center, Veterans Affairs Palo Alto Health Care System, Palo Alto, California 94304, USA
J Biol Chem 277:10775-82. 2002..Given that K1 Leu-160 --> Pro ((157)NQSLLQPL --> (157)NQSPLQPL) leads to epidermolytic hyperkeratosis, we tested and showed that the analogous K8 Leu-71 --> Pro leads to K8 hyperphosphorylation by p38 ..
- A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of SiemensM J Arin
Department of Cell Biology, Baylor College of Medicine, Houston, Texas, USA
J Invest Dermatol 112:380-2. 1999..bullosa of Siemens (IBS) is a rare autosomal dominant skin disorder with clinical features similar to epidermolytic hyperkeratosis (EHK). Both diseases have been linked to the type II keratin cluster on chromosome 12q...
- Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipaseTomohiro Yamaguchi
Graduate School of Life Science, University of Hyogo, 3 2 1, Koto, Kamigori, Hyogo 678 1297, Japan
Biochim Biophys Acta 1791:519-23. 2009..This in turn gives rise to the multiple phenotypes of CDS, such as ichthyosis, liver steatosis, or neurosensory diseases...
- Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1Florence Jobard
Centre National de Genotypage, 91057 Evry, France
Hum Mol Genet 11:107-13. 2002..It seems likely that the product of one of these enzymes may be the substrate of the other, and that they belong to the same metabolic pathway...
- The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genesJ Cheng
Howard Hughes Medical Institute, University of Chicago, Illinois 60637
Cell 70:811-9. 1992b>Epidermolytic hyperkeratosis (EH) is a skin disease characterized by keratin filament clumping and degeneration in terminally differentiating epidermal cells...
- Neonatal skin barrier: structure, function, and disordersTor Shwayder
Pediatric Dermatology, Henry Ford Hospital, Detroit, MI 48202, USA
Dermatol Ther 18:87-103. 2005..Discussion of therapy with the authors' experience highlights each disease...
- Incidental granular parakeratotic cornification in carcinomasKenneth S Resnik
Institute for Dermatopathology in Conshohocken, Conshohocken, Pennsylvania 19428, USA
Am J Dermatopathol 29:264-9. 2007..Similar to acantholytic dyskeratosis and epidermolytic hyperkeratosis, it may histopathologically represent a diagnostic finding in a specific dermatosis, one of the ..
- Linear epidermolytic acanthoma of vulva: an unusual presentationMolly Thomas
Department of Dermatology, Venereology and Leprosy, Christian Medical College and Hospital, Vellore, India
Indian J Dermatol Venereol Leprol 76:49-51. 2010Epidermolytic acanthoma (EA) is a rare benign tumor that shows epidermolytic hyperkeratosis (EH) on histopathology. It can occur in a solitary or disseminated form...
- Mouse keratin 4 is necessary for internal epithelial integrityS L Ness
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York 10461, USA
J Biol Chem 273:23904-11. 1998..in keratin genes expressed in skin lead to human disorders, including epidermolysis bullosa simplex and epidermolytic hyperkeratosis. We examined the role of keratin 4 (K4) in maintaining the integrity of internal epithelial linings by ..
- Multiple scrotal epidermolytic acanthomas; secondary to trauma?J P Banky
Department of Dermatology, Oxford Radcliffe Hospitals, Oxford, UK
Clin Exp Dermatol 29:489-91. 2004b>Epidermolytic hyperkeratosis (EH) is an abnormality of epidermal maturation, most commonly due to mutations in keratins 1 and 10, which may be a congenital or an acquired defect...
- KID syndrome associated with features of ichthyosis hystrixH C Nousari
Department of Dermatology, Johns Hopkins Medical Institutions, Baltimore, Maryland 21205, USA
Pediatr Dermatol 17:115-7. 2000..to be a clinical and pathologic chimera of two autosomal dominant diseases: epidermal nevus and epidermolytic hyperkeratosis. We present a patient with the classic triad of KID syndrome with clinical and histologic features of ..
- Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratinsGerhard Kolde
Departments of Dermatology and Allergy, Charite University Medicine of Berlin, Schumannstr 20 21, 10117 Berlin Germany
J Am Acad Dermatol 52:403-9. 2005..Light and electron microscopy of the plantar and gingival lesions revealed alterations of epidermolytic hyperkeratosis. Mutations in the known keratin genes were excluded by linkage analysis using microsatellite markers...
- Genetic and clinical mosaicism in a type of epidermal nevusA S Paller
Department of Pediatrics, Northwestern University Medical School, Chicago, IL
N Engl J Med 331:1408-15. 1994..b>Epidermolytic hyperkeratosis is an autosomal dominant blistering skin disease arising from mutations in the genes for keratin (K) 1 ..
- Aetiopathological and clinical study of erythrodermaB V S Prakash
Department of Dermatology, Government General Hospital, Kankinada
J Indian Med Assoc 107:100, 102-3. 2009..The present series had high percentage of erythroderma secondary to preexisting dermatoses. The onset of disease was insidious except in drug-induced erythroderma where it was acute...
- Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear formV Nazzaro
I Clinica Dermatologica, University of Milan, Italy
Br J Dermatol 122:417-22. 1990Two unrelated families are presented in both of which a child with generalized epidermolytic hyperkeratosis (congenital bullous ichthyosiform erythroderma) had a parent with linear epidermolytic hyperkeratosis (epidermolytic epidermal ..
- A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosisC C Chipev
Skin Biology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892
Cell 70:821-8. 1992b>Epidermolytic hyperkeratosis is an autosomal dominant disorder affecting the structural integrity of the suprabasal layers of human epidermis...
- Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosisJ A Rothnagel
Department of Cell Biology, Baylor College of Medicine, Houston, TX 77030
Science 257:1128-30. 1992b>Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum...
- Cytokeratins and dermatologyClaudio Jacques
Department of Dermatology and Post Graduate Course in Dermatology, School of Medicine, HUCFF UFRJ, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil
Skinmed 4:354-60; quiz 360-1. 2005..Two of the better characterized defects are bullous epidermolysis and epidermolytic hyperkeratosis. Anti-cytokeratin monoclonal antibodies are being used for diagnostic purposes to characterize the ..
- A new variant of autosomal recessive exfoliative ichthyosisA Zvulunov
Departments of Dermatology, Soroka University Medical Center and Faculty of Health Sciences, Ben Gurion University, Beer Sheva, Israel
Pediatr Dermatol 19:382-7. 2002..Histologic examination revealed orthokeratosis, a thickened granular cell layer, and spongiosis without epidermolytic hyperkeratosis. On electron microscopy there was prominent intercellular edema and numerous aggregates of keratin ..
- [Biomolecular advances in hereditary epidermal disorders]Angela Hernández-Martín
Unidad de Dermatologia, Hospital General Yague, Avda Cid 96, 09005 Burgos, Spain
Actas Dermosifiliogr 96:203-16. 2005..prevent and treat these processes, which include skin diseases as serious as epidermolysis bullosa or epidermolytic hyperkeratosis. In this article, we will study the most recent biomolecular findings referring to keratinization and ..
- Embryonic heart and skin defects in mice lacking plakoglobinC Bierkamp
Department of Molecular Embryology, Max Planck Institute for Immunobiology, Stubeweg 51, Freiburg, D 79108, Germany
Dev Biol 180:780-5. 1996..The skin phenotype in plakoglobin-deficient mice is reminiscent of the human blistering disease, epidermolytic hyperkeratosis.
- Epidermal nevusMercedes E Gonzalez
Department of Dermatology, New York University, New York, NY, USA
Dermatol Online J 16:12. 2010..We review the clinical morphologies, sites of involvement, histopathologic findings (presence or absence of epidermolytic hyperkeratosis), and syndromal associations of non-organoid EN with underlying mutations in different genes.
- REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMISDENNIS ROOP; Fiscal Year: 2010..Two transgenic approaches are proposed to address this question. Finally, epidermolytic hyperkeratosis (EHK), the dominantly inherited skin disorder caused by mutations in the post-mitotically expressed ..
- REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMISDENNIS ROOP; Fiscal Year: 2003..Moreover, defects in K1 have been identified as causative in the skin disease epidermolytic hyperkeratosis, EHK...
- The Fate of Epidermal MelanocytesKELLY MCGOWAN; Fiscal Year: 2007..The support of the Mentored Clinical Scientist Development Award (K08) and the guidance of Dr. Greg Barsh (mentor for this proposal) will facilitate the transition from a mentored trainee to a junior faculty position. ..
- ADVANCED TRAINING IN ENVIRONMENTAL TOXICOLOGYRobert Rice; Fiscal Year: 2007....
- CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROMEGabriele Richard; Fiscal Year: 2002....
- KERATINOCYTE TRANSGLUTAMINASE--STRUCTURE AND REGULATIONRobert Rice; Fiscal Year: 1993....
- KERATINOCYTE TRANSGLUTAMINASE: ANCHORAGE AND CLONINGRobert Rice; Fiscal Year: 1991....
- CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATIONGabriele Richard; Fiscal Year: 2004..We expect that these approaches provide critical information on the patho-mechanism of connexin defects in skin. ..