Pachyonychia congenita: pathogenesis of pain and approaches to treatment.

Autor: McCarthy RL; Centre for Cell Biology and Cutaneous Research, Blizard Institute, The Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, UK., de Brito M; Centre for Cell Biology and Cutaneous Research, Blizard Institute, The Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, UK., O'Toole EA; Centre for Cell Biology and Cutaneous Research, Blizard Institute, The Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, UK.

Publikováno v: Clinical and experimental dermatology [Clin Exp Dermatol] 2024 Nov 22; Vol. 49 (12), pp. 1510-1517.

A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.

Autor: McCarthy RL; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, UK., Schwartz J; Pachyonychia Congenita Project, Salt Lake City, UT, USA., Oldham J; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, UK., Bodemer C; Reference Center for Genodermatoses (MAGEC), Department of Dermatology, APHP, Hôpital Necker-Enfants Malades, Paris, France., Greco C; Department of Pain and Palliative Care, Hôpital Necker-Enfants Malades, Paris, France.; ATIP/Avenir Team 'Targeted Pain Therapy and Drug Repurposing in Genetic Skin Diseases', U1163 INSERM, Imagine Institut, Paris, France., Hovnanian A; INSERM UMR 1163, Université Paris Cité, Laboratory of Genetic Skin Diseases, Imagine Institute, Paris, France., Hansen CD; Pachyonychia Congenita Project, Salt Lake City, UT, USA.; Department of Dermatology, University of Utah, Salt Lake City, UT, USA., O'Toole EA; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, UK.; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, UK.

Publikováno v: The British journal of dermatology [Br J Dermatol] 2024 Jul 16; Vol. 191 (2), pp. 300-302.

Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches.

Autor: O'Toole EA; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom; Department of Dermatology, Royal London Hospital, Barts Health NHS Trust, London, United Kingdom., Kelsell DP; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Caterina MJ; Department of Neurosurgery, Neurosurgery Pain Research Institute, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; Department of Biological Chemistry, Johns Hopkins School of Medicine, Baltimore, Maryland, USA; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, Maryland, USA., de Brito M; Centre for Cell Biology and Cutaneous Research, Blizard Institute, Faculty of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Hansen D; Department of Dermatology, School of Medicine, University of Utah, Salt Lake City, Utah, USA., Hickerson RP; Division of Biological Chemistry and Drug Discovery, University of Dundee, Dundee, United Kingdom., Hovnanian A; INSERM UMR 1163, Laboratory of genetic skin diseases, Institut Imagine, Université Paris Cité, Paris, France; Department of Genomic Medicine of Rare Diseases, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Kaspar R; Ayni Therapeutics, Santa Cruz, California, USA., Lane EB; A∗STAR Skin Research Laboratories, Skin Research Institute of Singapore, Singapore, Singapore., Paller AS; Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA., Schwartz J; Pachyonychia Congenita Project, Salt Lake City, Utah, USA., Shroot B; Palvella Therapeutics, Wayne, Pennsylvania, USA., Teng J; Pediatric Dermatology, Stanford University School of Medicine, Stanford, California, USA., Titeux M; INSERM UMR 1163, Laboratory of genetic skin diseases, Institut Imagine, Université Paris Cité, Paris, France., Coulombe PA; Department of Cell & Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Department of Dermatology, University of Michigan Medical School, Ann Arbor, Michigan, USA., Sprecher E; Division of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel; Department of Human Molecular Genetics and Biochemistry, School of Medicine, Tel-Aviv University, Tel Aviv, Israel. Electronic address: elisp@tlvmc.gov.il.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2024 Apr; Vol. 144 (4), pp. 748-754. Date of Electronic Publication: 2023 Dec 15.

Successful treatment of pachyonychia congenita with simvastatin.

Autor: Iqneibi M; Department of Dermatology and Venereology, Hamad Medical Corporation, Doha, Qatar.; Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha, Qatar., Al-Khawaga S; Department of Dermatology and Venereology, Hamad Medical Corporation, Doha, Qatar.; Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha, Qatar.; Dermatology Institute, Academic Health System, Hamad Medical Corporation, Doha, Qatar.; School of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar.; College of Medicine, Qatar University, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Wafi O; Department of Dermatology and Venereology, Hamad Medical Corporation, Doha, Qatar.; Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha, Qatar., Steinhoff M; Department of Dermatology and Venereology, Hamad Medical Corporation, Doha, Qatar.; Translational Research Institute, Academic Health System, Hamad Medical Corporation, Doha, Qatar.; Dermatology Institute, Academic Health System, Hamad Medical Corporation, Doha, Qatar.; School of Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar.; College of Medicine, Qatar University, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Department of Dermatology, Weill Cornell Medicine, New York, New York, USA.

Publikováno v: Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2024 Apr; Vol. 38 (4), pp. e356-e358. Date of Electronic Publication: 2023 Nov 22.

Walking a day in a pachyonychia congenita patient's shoes: Impact on plantar pain and activity levels measured with wristband activity trackers.

Autor: Lipner SR; Department of Dermatology, Weill Cornell Medical College, New York, United States of America., Falotico JM; Department of Dermatology, Renaissance School of Medicine, Stony Brook University, Stony Brook, United States of America., Matushansky JT; Department of Medicine, Columbia University, New York, United States of America., Evans H; Department of Dermatology, Pachyonychia Congenita Project, Salt Lake City, Utah, United States of America., Schwartz J; Department of Dermatology, Pachyonychia Congenita Project, Murray, Utah, United States of America., Hansen CD; Department of Dermatology, University of Utah School of Medicine, Murray, Utah, United States of America.

Publikováno v: Indian journal of dermatology, venereology and leprology [Indian J Dermatol Venereol Leprol] 2023 Nov-Dec; Vol. 89 (6), pp. 850-853.