The role of cutaneous manifestations in the diagnosis of the Ehlers‐Danlos syndromes

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 clin...

Full description

Saved in:
Bibliographic Details
Published in:Skin health and disease 2023-02, Vol.3 (1), p.e140-n/a
Main Authors: Stembridge, Natasha, Doolan, Brent J., Lavallee, Mark E., Hausser, Ingrid, Pope, F. Michael, Seneviratne, Suranjith L., Winship, Ingrid M., Burrows, Nigel P.
Format: Article
Language:English
Subjects:
Collagen
Connective tissue diseases
Contusions
Mutation
Proteins
Review
Scars
Trauma
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2690-442X
2690-442X
DOI:10.1002/ski2.140