Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: a clinical review
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 adjunc...
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| Main Authors: | , , , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
September 2023
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| In: |
Journal of the American Academy of Dermatology
Year: 2023, Volume: 89, Issue: 3, Pages: 551-559 |
| ISSN: | 1097-6787 |
| DOI: | 10.1016/j.jaad.2023.01.034 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.jaad.2023.01.034 Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S0190962223001706 
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| Author Notes: | Brent J. Doolan, Mark Lavallee, Ingrid Hausser, F. Michael Pope, Suranjith L. Seneviratne, Ingrid M. Winship, and Nigel P. Burrows |
| Summary: | 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. |
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| Item Description: | Online verfügbar: 8. Februar 2023, Artikelversion: 18. August 2023 Gesehen am 19.10.2023 |
| Physical Description: | Online Resource |
| ISSN: | 1097-6787 |
| DOI: | 10.1016/j.jaad.2023.01.034 |