Resultats de la cerca

Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease per Stina Schiller, Christina Seebode, Hans Christian Hennies, Kathrin Giehl, Steffen Emmert

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Papillon–Lefèvre syndrome: clinical presentation and management options per Sreeramulu Basapogu, Shyam, Ajay Ajay, Suman Suman

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Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development per Dawn H. Siegel, Julianne A. Mann, Alfons Krol, Katherine A. Rauen

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Exuberant clinical picture of Buschke-Fischer-Brauer palmoplantar keratoderma in bedridden patient per João Roberto Antônio, Guilherme Bueno de Oliveira, Natália Cristina Pires Rossi, Laiza Gabriela Garcia Pires

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Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer per Kathrin Giehl, Gertrud Eckstein, Sandra M. Pasternack, Silke Praetzel‐Wunder, Thomas Ruzicka, Peter Lichtner, K. Seidl, Mike A. Rogers, Elisabeth Graf, Lutz Langbein, Markus Braun‐Falco, Regina C. Betz, Tim M. Strom

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Structural and Functional Consequences of Loricrin Mutations in Human Loricrin Keratoderma (Vohwinkel Syndrome with Ichthyosis) per Matthias Schmuth, Joachim W. Fluhr, Debra C. Crumrine, Yoshikazu Uchida, Jean‐Pierre Hachem, Martin J. Behne, David G. Moskowitz, Angela M. Christiano, Kenneth R. Feingold, Peter M. Elias

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Compound Heterozygous Desmoplakin Mutations Result in a Phenotype with a Combination of Myocardial, Skin, Hair, and Enamel Abnormalities per Mỹ G. Mahoney, Sara Sadowski, Donna Brennan, Pekka Pikander, Pekka Saukko, James K. Wahl, Heikki Aho, Kristiina Heikinheimo, Leena Bruckner‐Tuderman, Andrzej Fertala, Juha Peltonen, Jouni Uitto, Sirkku Peltonen

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Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients per Anders Vahlquist, Anette Bygum, Agneta Gånemo, Marie Virtanen, Maritta Hellström-Pigg, Gitte Strauss, F Brandrup, Judith Fischer

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The Molecular Pathology of Progressive Symmetric Erythrokeratoderma: A Frameshift Mutation in the Loricrin Gene and Perturbations in the Cornified Cell Envelope per Akemi Ishida‐Yamamoto, John A. McGrath, HaMut Lam, Hajime Iizuka, Richard A. Friedman, Angela M. Christiano

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Mal de Meleda: relato de 2 casos de ocorrência familiar per Fernanda Ayres de Morais e Silva, Thiago Vinicius Ribeiro da Cunha, Elisangela dos Santos Boeno, Denise Steiner

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Clinical and Pathological Features of Pachyonychia Congenita per Sancy A. Leachman, Roger L. Kaspar, Philip Fleckman, Scott R. Florell, Frances J.D. Smith, W.H. Irwin McLean, Declan P. Lunny, Leonard M. Milstone, Maurice A. M. Van Steensel, Colin S. Munro, Edel A. O’Toole, Jülide Tok Çelebi, Aleksej Kansky, EBirgitte Lane

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Desmoglein as a Target in Skin Disease and Beyond per Masayuki Amagai, John R. Stanley

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The molecular genetic analysis of the expanding pachyonychia congenita case collection per Neil Wilson, Edel A. O’Toole, Leonard M. Milstone, C. David Hansen, Andrew A Shepherd, Elise Al-Asadi, M.E. Schwartz, W.H. Irwin McLean, Eli Sprecher, Frances J.D. Smith

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Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Di... per I. Anton‐Lamprecht

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Papulosquamous dermatoses of AIDS per Neil S. Sadick, N. Scott McNutt, Mark H. Kaplan

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Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma per DebbieM Hunt, Lisa Rickman, NeilV Whittock, RobinAJ Eady, Danijela Šimrak, P. Dopping-Hepenstal, HowardP Stevens, DKeithB Armstrong, Hans-Christian Hennies, Wolfgang Küster, A. Hughes, Joachim Arnemann, IreneM Leigh, John A. McGrath, David P. Kelsell, RogerS. Buxton

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Regulation of Keratin 9 in Nonpalmoplantar Keratinocytes by Palmoplantar Fibroblasts Through Epithelial–Mesenchymal Interactions per Yuji Yamaguchi, Satoshi Itami, Masahito Tarutani, Ko Hosokawa, Hiroyuki Miura, Kunihiko Yoshikawa

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Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma per Tatjana Williams, Wolfram Machann, Leif Kühler, Henning Hamm, Josef Müller‐Höcker, Michael Zimmer, Georg Ertl, Oliver Ritter, Meinrad Beer, Jost Schönberger

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The Phenotypic and Molecular Genetic Features of Pachyonychia Congenita per W.H. Irwin McLean, C. David Hansen, Mark J. Eliason, Frances J.D. Smith

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Frameshift Mutation in the V2 Domain of Human Keratin 1 Results in Striate Palmoplantar Keratoderma per Neil V. Whittock, Frances J.D. Smith, W.H. Irwin McLean, Hong Wan, Rajeev Mallipeddi, W.A.D. Griffiths, Patricia J.C. Dopping-Hepenstal, G H S Ashton, Robin A.J. Eady, John A. McGrath

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