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

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.