PROGRAM

[ABSTRACT 261]

A novel skin phenotype resulting from heterozygous deletion of six keratin genes

J Mohamad,^1,2 O Sarig,¹ P Beattie,³ K Malovitski,^1,2 S Assaf,^1,2 EA O’Toole,^4,5,6 J Schwartz,⁴ H Evans,⁴ L Samuelov^1,2 and E Sprecher^{1,2,4 1} Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel, ² Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel, ³ Department of Dermatology, Royal Hospital for Children, Glasgow, United Kingdom, ⁴ Pachyonychia Congenita Project, Holladay, UT, ⁵ Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom and ⁶ Department of Dermatology, The Royal London Hospital, London, United Kingdom

[ABSTRACT 181]

Sphingosine 1-phosphate lyase insufficiency induced ichthyosis is due to sphingolipid imbalance, increased differentiation, and aberrant intercellular junctions

CJ Smith,¹ JL Williams,¹ C Hall,¹ MP Caley,² EA O’Toole,² R Prasad¹ and LA Metherell^{1 1} Department for Endocrinology, Queen Mary University London, London, United Kingdom and ² CBCR, QMUL, London, United Kingdom

[ABSTRACT 262]

The Role of Cholesterol in Rare Inflammatory Skin Disease

M Riachi,¹ S Polubothu,¹ A Sauvadet,¹ J Ellis² and V Kinsler^{1 1} Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom and ² Metabolomics, The Francis Crick Institute, London, United Kingdom

[ABSTRACT 263]

EGFR signalling is overactive in Pachyonychia congenita: effective treatment with oral erlotinib

J Basset,¹ L Marchal¹ and A Hovnanian1^{,2,3 1} Laboratory of genetic skin diseases, INSERMImagine Institute, Paris, France, ² University of Paris, Paris, France and ³ Department of Genetics, Necker Hospital for Sick Children Assistance Publique des Hôpitaux de Paris (APHP), Paris, France

[ABSTRACT 264]

PKC412 prevents epithelial sheet damage in epidermolysis bullosa simplex via keratin and cell contact stabilization

K Rietscher,¹ H Jahnke,² M Rübsam,^3,4 C Has,⁵ M Omary,⁶ C Niessen^3,4 and TM Magin^{1 1} Institute of Biology, Leipzig University, Leipzig, Germany, ² Center for Biotechnology and Biomedicine, Leipzig University, Leipzig, Germany, ³ Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany, ⁴ Department Cell Biology of the Skin, University of Cologne, Cologne, Germany, ⁵ Department of Dermatology, University of Freiburg, Freiburg, Germany and ⁶ Center for Advanced Biotechnology and Medicine, and Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ

[ABSTRACT 268]

ABE8e adenine base editor corrects COL7A1 nonsense mutation efficiently and safely

A Sheriff,¹ I Guri,¹ P Zebrowska,² V Llopis-Hernandez,¹ I Brooks,¹ G Newby,³ D Liu,³ L Laczmanski,² JA McGrath¹ and J Jackow^{1 1} St John’s Institute of Dermatology, King’s College London, London, United Kingdom, ² Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Wroclaw, Poland and ³ Broad Institute of Harvard and MIT, Cambridge,MA, Boston, NY

[ABSTRACT 269]

Atopic polygenic risk score is associated with paradoxical eczema developing in psoriasispatients treated with biologics

A Al-Janabi,¹ S Eyre,⁴ AC Foulkes,¹ AR Khan,² N Dand,³ C Smith,⁵ C Griffiths,¹ AP Morris⁴ and RB Warren^{1 1} Centre for Dermatology Research, University of Manchester, Manchester, United Kingdom, ² UCB Biopharma, Slough, United Kingdom, ³ Department of Medical and Molecular Genetics, King’s College London, London, United Kingdom, ⁴ Centre for Genetics and Genomics Versus Arthritis, University of Manchester, Manchester, United Kingdom and ⁵ St John’s Institute of Dermatology, King’s College London, London, United Kingdom

[ABSTRACT 272]

An exome wide association study identifies new genetic determinants for palmar plantar pustulosis

A Hernandez,¹ L Thomas,² P Baum,³ S Visvanathan,⁴ J Barker,^1,5 M Loset,² C Smith^1,5 and F Capon^{1 1} King’s College London, London, United Kingdom, ² Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway, ³ Boehringer Ingelheim Pharma GmbH & Co., Biberach, Germany, ⁴ Boehringer Ingelheim Pharmaceuticals, Ridgefield, CT and ⁵ St John’s Institute of Dermatology, London, United Kingdom