Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review - 18/08/23
, Mark Lavallee, MD c, Ingrid Hausser, PhD d, F. Michael Pope, MD e, Suranjith L. Seneviratne, DPhil (Oxon) f, g, Ingrid M. Winship, PhD h, i, Nigel P. Burrows, MD jAbstract |
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.
Il testo completo di questo articolo è disponibile in PDF.Key words : Ehlers-Danlos syndrome, heritable connective tissue disorders, joint hypermobility, skin fragility, skin hyperextensibility
Abbreviations used : cEDS, clEDS, clEDS2, ECM, EDS, hEDS, pEDS, TEM, vEDS
Mappa
| Funding sources: None. |
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| IRB approval status: Not applicable. |
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| Patient consent: Consent for the publication of recognizable patient photographs or other identifiable material was obtained by the authors and included at the time of article submission to the journal stating that all patients gave consent with the understanding that this information may be publicly available. |
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| Reprints not available from the authors. |
Vol 89 - N° 3
P. 551-559 - settembre 2023 Ritorno al numero
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