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.

Pachyonychia Congenita.

Autor: Tan Y; Department of Dermatology, Peking Union Medical College Hospital, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Skin and Immune Diseases, No.1, Shuaifuyuan, Dongcheng District, Beijing, 100730, PR China., Ma DL; Department of Dermatology, Peking Union Medical College Hospital, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, National Clinical Research Center for Skin and Immune Diseases, No.1, Shuaifuyuan, Dongcheng District, Beijing, 100730, PR China. mdonglai@sohu.com.

Publikováno v: Indian journal of pediatrics [Indian J Pediatr] 2024 Mar; Vol. 91 (3), pp. 300-301. Date of Electronic Publication: 2023 Jun 08.

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