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Abstract Book Abstract Book First World Conference on Ichthyosis August 31 – September 2, 2007 Münster, Germany Organized by Network for Ichthyoses and related keratinization disorders (NIRK) together with Selbsthilfe Ichthyose e.V. and EU-Coordination Action GENESKIN Contacts: H. Traupe, Münster, Email: [email protected] B. Willis, Münster, Email: [email protected] Barbara Kleinow, Email: [email protected] Geske Wehr, Email: [email protected] Location: Lecture Hall Location:Department of Dermatology University Hospital Von Esmarch-Str. 58 48149 Münster Germany Friday, August 31, 2007 page Workshop on clinical diversity and diagnostic standardization D. Metze, Münster Histopathology of ichthyoses: Clues for diagnostic standardization ..................................... 19 I. Hausser, Heidelberg Ultrastructural characterization of lamellar ichthyosis: A tool for diagnostic standardization 13 H. Verst, Münster The data base behind the NIRK register: a secure tool for genotype/phenotype analysis 34 V. Oji, Münster Classification of congenital ichthyosis ................................................................................... 20 M. Raghunath, Singapore Congenital Ichthyosis in South East Asia ............................................................................. 25 Keratinization disorders and keratins I. Hausser, Heidelberg Ultrastructure of keratin disorders: What do they have in common? ................................... 12 M. Arin, Köln Recent advances in keratin disorders .................................................................................. E. Sprecher, Haifa Naegeli-Franceschetti-Jadassohn Sydrome: a Keratin Disease .......................................... 26 P.M. Steijlen, Maastricht Epidermolytic palmoplantar keratoderma with “tono tubular” keratin ................................... Molecular advances in epidermal differentiation D. Kelsell, London Role of connexin isoforms for epidermal differentiation and wound healing ........................ L. Bruckner-Tuderman, Freiburg Role of kindlin in human disease and keratinocyte motility .................................................. M. Guerrin, Toulouse Granular keratinocytes transcriptome: Identification and characterisation of new differentiation markers .......................................................................................................... 9 K.H. Grzeschik, Marburg Molecular basis of focal dermal hypoplasia .......................................................................... 8 Saturday, September 1, 2007 Recent advances in gene mapping and in lipid genes J. Fischer, Paris Mapping genes for nonbullous autosomal recessive congenital ichthyosis: What we know today ..................................................................................................................................... 7 H.C. Hennies, Köln Functional understanding of mutations in congenital ichthyosis .......................................... 14 P. Krieg, Heidelberg 12R – Lipoxygenase Deficiency impairs Skin Barrier Function ............................................ 18 G. Schmitz, Regensburg Apolipoprotein E and lipid traffic within keratinocytes .......................................................... H. Shimizu, Sapporo What can we learn from Harlequin ichthyosis? .................................................................... 27 E. O'Toole, London In vitro models for harlequin ichthyosis ................................................................................ 22 R. Happle, Marburg The CHILD syndrome revisited: the clinical perspective ...................................................... 11 A. König, Marburg Functional understanding of NSDHL mutations ................................................................... 17 European and international perspective G. Zambruno, Rome EU coordination action GENESKIN Purpose, structure and achievements of GENESKIN .......................................................... I. Zwoch, Bonn Orphan diseases and the European Union – what patients and scientists may expect 36 M. Schmuth, San Francisco Structure and aims of Foundation for Ichthyosis and Related Skin Types............................ 2 page Therapy of ichthyosis: a challenge in daily practice A. Vahlquist, Uppsala Introduction to the topic: therapy of ichthyosis/general principles and substances ............. 31 M.L. Preil, Bad Salzschlirf Management of ichthyosis: The TOMESA experience ......................................................... 24 A.M. van Steensel, Maastricht Our experience with RAMBAs in treatment of congenital ichthyosis ................................... 33 A. Vahlquist, Uppsala Results of an ongoing study with Liarozol for lamellar ichthyosis ........................................ 32 Topical treatment/the patient perspective G. Wehr, Kürten The experience from Germany J. Devidts, Belgium The experience from Belgium F. Minelli, Italy The experience from Italy with special focus on the scalps M. Sandström/M. Olsson, Sveden What can be done for palms and soles Experimental therapies M. Braun-Falco, Freiburg Gene therapy for keratinization disorders: what is the current state? .................................. J. Chen, D. Roop, Denver Oligonucleotide therapy for keratin disorders ....................................................................... 6 H. Traupe, Münster Enzyme replacement therapy of lamellar ichthyosis: the current state ................................ 30 J. A. McGrath, London Cell therapy approaches: the example of Epidermolysis bullosa ......................................... Sunday, September 2, 2007 Proteases and keratinization disorders P. Hachem, Brussels Importance of serine proteases for epidermal differentiation ............................................... 10 A. Taïeb, Bordeaux Insights into Pathogenesis of Ichthyosis in Trichothiodystrophy Syndromes ....................... 29 A. Hovnanian, Toulouse Towards functional understanding of Netherton syndrome .................................................. A. Ishida-Yamamoto, Distinct intracellular transport for different epidermal lamellar body molecules ................... 15 Ichthyoses and the cornified envelope M. Schmuth, San Francisco How do abnormalities in brick constituents cause barrier abnormalities? ............................ 26 S. Weidinger, München Genetics of epithelial barrier integrity in atopic diseases ..................................................... 35 M. Paulsson, Köln Transglutaminase-3 deficient mice: a subtle skin phenotype ............................................... 23 WK Jacyk, Pretoria Bathing suit ichthyosis, the South African experience .......................................................... 16 K. Aufenvenne, Münster Towards functional understanding of bathing suit ichthyosis ............................................... 5 B. Ahvazi, Bethesda Modelling of transglutaminase-1 and transglutaminase-3: what can we predict? ................ 4 3 Abstract for the First World Conference on Ichthyosis Section: Ichthyoses and the cornified envelope Author(s): Karen M. Boeshans and Bijan Ahvazi From the X-ray Crystallography Facility/Office of Science and Technology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892-8024; Title: Lamellar Ichthyosis: Mutational Insights from a Transglutaminase 1 Model The skin stratum corneum is an effective barrier for maintaining the internal milieu against the external environment. Malformation of the cell envelope (CE) at the cell periphery resulting from mutations of the transglutaminase 1 (TGase 1) gene is the cause of some cases of lamellar ichthyosis (LI). TGase 1 is an enzyme that cross-links proteins within the CE of mature keratinocytes. It is not yet clear how these mutations cause LI. A PubMed survey shows 34 TGase 1 missense mutation sites involved in LI. Not all of these mutations, however, result in loss of in vitro cross-linking ability. We suggest that some mutations cause a defect in binding to other proteins and/or to the correct anchoring of the enzyme to the cytoplasmic side of the plasma membrane. We have identified putative RGD and LVD motifs in TGase 1, which we propose serve to bind TGase 1 to a family of cell-adhesion molecules. Hypothesis: Mutations in TGase 1 may cause LI by either a direct or indirect loss of in vivo protein cross-linking activity. Indirect loss of cross-linking activity may be due to aberrant TGase 1/protein interactions, and/or to the prevention of correct binding of the enzyme to the plasma membrane. 4 Abstract for the First World Conference on Ichthyosis Section: Ichthyoses and the cornified envelope Author(s): K. Aufenvenne, T. Walker, V. Oji, H.C. Hennies, N. Seller, P. Bruckner, H. Traupe Title: Towards functional understanding of bathing suit ichthyosis Bathing suit ichthyosis (BSI) is described as striking and unique clinical subtype of transglutaminase-1 deficient lamellar ichthyosis (LI type 1) with large dark-grey or brownish scales restricted to the bathing suit areas. Recently, in a group of ten individuals of independent families we identified new mutations in the TGM1 gene which differ from those which can be found in patients with generalized lamellar ichthyosis. Previous clinical analysis, atomic modelling and immunohistochemical studies suggest a temperature depending activity of the identified TGM1 mutations in BSI patients. To further elucidate the molecular basis of this unusual phenotype
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