Clinical and Ultrastructural Skin Alterations in the Ehlers-Danlos Syndrome, Hypermobility Type

Authors

  • Trinh Hermanns-Lê Unit of Eletronmicroscopy, Department of Pathology, Unilab Lg, Liège University Hospital, Liège, Belgium
  • Gérald E. Piérard Laboratory of Skin Bioengineering and Imaging, Department of Dermatopathology, University of Liège and University Hospital of Liège, 4000 Liège, Belgium
  • Daniel Manicourt Department of Rheumatology, Saint-Luc University Hospital, 1200 Brussels, Belgium
  • Claudine Piérard-Franchimont Laboratory of Skin Bioengineering and Imaging, Department of Dermatopathology, University of Liège and University Hospital of Liège, 4000 Liège, Belgium

DOI:

https://doi.org/10.17140/DRMTOJ-1-107

Keywords:

Collagen, Elastic fibre, Ultrastructure, Tenascin, Decorin

Abstract

Ehlers-Danlos Syndrome (EDS) represents a cluster of specific genetic connective
tissue disorders. It is clinically evoked when skin appears velvety and hyperextensible, in
combination with joint laxity and connective tissue fragility. The hypermobile variant (EDSH)
is among the most common presentations. It presents as an autosomal dominant pathology.
The genetic mutation presently remains undisclosed in most cases. However, ultrastructural
alterations are often distinguishable. Ehlers-Danlos Syndrome Hypermobile (EDSH) is mostly
observed in women in whom additional signs to joint laxity are present. Hyperextensibility
and/or velvety presentation of skin is one of the two major diagnostic signs in EDSH. Atrophic
scars and delayed wound healing are commonly present. These features have to be considered
in particular by plastic surgeons. The ultrastructural skin changes show various numbers of
flower-like collagen fibres as well as other abnormalities in the connective tissue components.

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Published

2016-03-24

How to Cite

Trinh Hermanns-Lê, Gérald E. Piérard, Daniel Manicourt, & Claudine Piérard-Franchimont. (2016). Clinical and Ultrastructural Skin Alterations in the Ehlers-Danlos Syndrome, Hypermobility Type. Dermatology, 1(1), 22–26. https://doi.org/10.17140/DRMTOJ-1-107

Issue

Vol. 1 No. 1 (2016): Volume 1 Issue 1 2016

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