The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.

Autor: Stembridge N; Department of Dermatology Cambridge University Hospitals NHS Foundation Trust Cambridge UK., Doolan BJ; St John's Institute of Dermatology School of Basic and Medical Biosciences King's College London London UK.; Guy's and St Thomas' NHS Foundation Trust London UK., Lavallee ME; Department of Orthopedics University of Pittsburgh Medical Center of Central PA Pittsburgh Pennsylvania USA., Hausser I; Institute of Pathology Heidelberg University Hospital Heidelberg Germany., Pope FM; 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 IM; Department of Genetic Medicine The Royal Melbourne Hospital Melbourne Victoria Australia.; Department of Medicine The University of Melbourne Melbourne Victoria Australia., Burrows NP; Department of Dermatology Cambridge University Hospitals NHS Foundation Trust Cambridge UK.
Jazyk: angličtina
Zdroj: Skin health and disease [Skin Health Dis] 2022 Jul 15; Vol. 3 (1), pp. e140. Date of Electronic Publication: 2022 Jul 15 (Print Publication: 2023).
DOI: 10.1002/ski2.140
Abstrakt: The Ehlers-Danlos syndromes (EDS) comprise a group of inherited connective tissue disorders presenting with features of skin hyperextensibility, joint hypermobility, abnormal scarring and fragility of skin, blood vessels and some organs. The disease is generally diagnosed through the cluster of clinical features, though the addition of genetic analysis is the gold standard for diagnosis of most subtypes. All subtypes display skin manifestations, which are essential to the accurate clinical diagnosis of the condition. Furthermore, cutaneous features can be the first and/or only presenting feature in some cases of EDS and thus understanding these signs is vital for diagnosis. This review focuses on particular cutaneous features of each EDS subtype and their clinical importance. Provision of a specific diagnosis is important for management, prognosis and genetic counselling, often for family members beyond the individual.
Competing Interests: All authors of this manuscript certify that they have no affiliations with or involvement in any organization of entity with any financial interest or other equity interest or non‐financial interest in the materials discussed in this manuscript.
(© 2022 The Authors. Skin Health and Disease published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)
Databáze: MEDLINE
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