Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review.

Autor: Doolan BJ; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK; St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, UK. Electronic address: b.doolan@nhs.net., Lavallee M; Department of Orthopedics, University of Pittsburgh Medical Center of Central PA, Pittsburgh, Pennsylvania., 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: Journal of the American Academy of Dermatology [J Am Acad Dermatol] 2023 Sep; Vol. 89 (3), pp. 551-559. Date of Electronic Publication: 2023 Feb 08.
DOI: 10.1016/j.jaad.2023.01.034
Abstrakt: Background: The Ehlers-Danlos syndromes (EDSs) comprise a group of connective tissue disorders that manifest with skin hyperextensibility, easy bruising, joint hypermobility and fragility of skin, soft tissues, and some organs. A correct assessment of cutaneous features along with the use of adjunct technologies can improve diagnostic accuracy.
Objectives: To systematically review the cutaneous features and adjunct investigations of EDS.
Methods: A search of PubMed and Web of Science for EDS-related cutaneous features and additional investigations was undertaken from publication of the 2017 International Classification of EDS until January 15, 2022.
Results: One-hundred-and-forty studies involved 839 patients with EDS. The EDS female-to-male ratio was 1.36:1 (P < .001). A high prevalence of skin hyperextensibility, bruising, and soft skin were noted. Most patients with vascular Ehlers-Danlos syndrome showed venous visibility, skin fragility, and acrogeria. Classical EDS showed subcutaneous spheroids and molluscoid pseudotumours. In patients that underwent skin biopsies, only 30.3% and 71.4% showed features suggestive of EDS using light microscopy and transmission electron microscopy, respectively.
Limitations: Retrospective study and small cases numbers for some EDS-subtypes.
Conclusions: An accurate clinical diagnosis increases the chances of a molecular diagnosis, particularly for rarer EDS subtypes, whilst decreasing the need for genetic testing where there is a low clinical suspicion for a monogenic EDS-subtype.
Competing Interests: Conflicts of interest None disclosed.
(Copyright © 2023 American Academy of Dermatology, Inc. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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