Skin fragility and wound management in Ehlers-Danlos syndromes: a report by the International Consortium on Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group.

Autor: Angwin C; National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, UK., Doolan BJ; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK., Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany., Labine B; Department of Dermatology, Lakewood Health System, Sartell, MN, USA., Lavallee M; Department of Orthopedics and Sports Medicine, UPMC-Central PA, Harrisburg, PA, USA., Mackay D; Department of Surgery, Division of Plastic Surgery, Penn State College of Medicine, Hershey, PA, USA., Pope FM; National Ehlers Danlos Syndrome Service, London North West University Healthcare NHS Trust, London, UK.; Department of Dermatology, Chelsea and Westminster Hospital NHS Foundation Trust (West Middlesex University Hospital), London, UK., Seneviratne SL; Institute of Immunity and Transplantation, Royal Free Hospital and University College London, London, UK.; Nawaloka Hospital Research and Education Foundation, Nawaloka Hospitals, Colombo, Sri Lanka., Winship I; Genomic Medicine and Family Cancer Clinic, Royal Melbourne Hospital, and Department of Medicine, The University of Melbourne, Parkville, VIC, Australia., Burrows NP; Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Publikováno v: Clinical and experimental dermatology [Clin Exp Dermatol] 2024 Nov 22; Vol. 49 (12), pp. 1496-1503.

PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.

Autor: Polubothu S; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom; Paediatric Dermatology, Great Ormond Street Hospital, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Bender N; Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Muthiah S; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Zecchin D; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Demetriou C; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom., Martin SB; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Malhotra S; Scientific Computing Department, Science and Technology Facilities Council, Research Complex at Harwell, Harwell Oxford, United Kingdom., Travnickova J; MRC Human Genetics Unit and Cancer Research UK Edinburgh Centre, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Zeng Z; MRC Human Genetics Unit and Cancer Research UK Edinburgh Centre, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Böhm M; Department of Dermatology, University of Münster, Münster, Germany., Barbarot S; Department of Dermatology, Centre Hospitalier Universitaire Nantes, Nantes, France., Cottrell C; Institute for Genomic Medicine, Nationwide Childrens' Hospital, Columbus, USA., Davies O; Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Baselga E; Department of Dermatology, SJD Barcelona Children's Hospital, Barcelona, Spain., Burrows NP; Department of Dermatology, Addenbrooke's Hospital, Cambridge, United Kingdom., Carmignac V; Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France., Diaz JS; Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, United Kingdom; Department of Statistics, College of Science, Central Luzon State University, Science City of Munoz, Philippines; Department of Physical Sciences and Mathematics, College of Arts and Sciences, University of the Philippines Manila Ermita, Manila, Philippines., Fink C; Department of Dermatology, University of Heidelberg, Heidelberg, Germany., Haenssle HA; Department of Dermatology, University of Heidelberg, Heidelberg, Germany., Happle R; Department of Dermatology, Medical Center, University of Freiburg, Freiburg, Germany., Harland M; Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, United Kingdom., Majerowski J; Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Vabres P; Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France; Department of Dermatology, CHU Dijon, Dijon, France., Vincent M; Department of Dermatology, Centre Hospitalier Universitaire Nantes, Nantes, France., Newton-Bishop JA; Division of Haematology and Immunology, Leeds Institute of Medical Research, Leeds, United Kingdom., Bishop DT; Division of Haematology and Immunology, Leeds Institute of Medical Research, Leeds, United Kingdom., Siegel D; Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Patton EE; MRC Human Genetics Unit and Cancer Research UK Edinburgh Centre, MRC Institute of Genetics & Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Topf M; Centre for Structural Systems Biology, Leibniz-Institut für Virologie (LIV) and Universitätsklinikum Hamburg-Eppendorf (UKE), Hamburg, Germany., Rajan N; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom., Drolet B; Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Kinsler VA; Mosaicism and Precision Medicine Laboratory, The Francis Crick Institute, London, United Kingdom; Paediatric Dermatology, Great Ormond Street Hospital, London, United Kingdom; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, United Kingdom. Electronic address: v.kinsler@ucl.ac.uk.

Publikováno v: The Journal of investigative dermatology [J Invest Dermatol] 2023 Jun; Vol. 143 (6), pp. 1042-1051.e3. Date of Electronic Publication: 2022 Dec 23.

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.

Autor: Doolan BJ; School of Basic and Medical Biosciences, St. John's Institute of Dermatology, King's College London, London, United Kingdom., Lavallee ME; Department of Orthopedics, University of Pittsburgh Medical Center of Central PA, Pittsburgh, PA, United States., Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany., Schubart JR; Department of Surgery, Penn State College of Medicine, Hershey, PA, United States., Michael Pope F; Department of Dermatology, Chelsea and Westminster Hospital NHS Foundation Trust (West Middlesex University Hospital), London, United Kingdom., Seneviratne SL; Institute of Immunity and Transplantation, Royal Free Hospital and University College London, London, United Kingdom.; Nawaloka Hospital Research and Education Foundation, Nawaloka Hospitals, Colombo, Sri Lanka., Winship IM; Department of Genetic Medicine, The Royal Melbourne Hospital, Melbourne, VIC, Australia.; Department of Medicine, The University of Melbourne, Melbourne, VIC, Australia., Burrows NP; Department of Dermatology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

Publikováno v: Frontiers in medicine [Front Med (Lausanne)] 2023 Jan 23; Vol. 10, pp. 1053466. Date of Electronic Publication: 2023 Jan 23 (Print Publication: 2023).

Branchio-oculo-facial syndrome with bilateral postauricular aplasia cutis.

Autor: Stembridge N; Departments of, Dermatology, Addenbrooke's Hospital, Cambridge, UK., Burrows NP; Departments of, Dermatology, Addenbrooke's Hospital, Cambridge, UK., Holden ST; Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.

Publikováno v: Clinical and experimental dermatology [Clin Exp Dermatol] 2021 Dec; Vol. 46 (8), pp. 1659-1661. Date of Electronic Publication: 2021 Aug 25.

Genetic diagnosis of the Ehlers-Danlos syndromes.

Autor: Zschocke Ph.D., Johannes¹ (AUTHOR) Johannes.Zschocke@i-med.ac.at, Demirdas MD, Ph.D., Serwet² (AUTHOR) s.demirdas@erasmusmc.nl, van Dijk MD, PhD, Fleur S.³ (AUTHOR) Fleur.dijk@nhs.net

Publikováno v: Medizinische Genetik. Dec2024, Vol. 36 Issue 4, p235-245. 11p.