Clinical and Ultrastructural Skin Alterations in the Ehlers-Danlos Syndrome, Hypermobility Type.
Ehlers-Danlos Syndrome 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 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 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.
Ehlers-Danlos Syndrome encompasses an heterogenous cluster of connective
tissue disorders, currently classified into six principal types.
They are characterized by variable combinations of increased skin distensibility and elasticity, joint laxity and connective tissue fragility. The Ehlers-Danlos Syndrome Hypermobile type is probably the most
frequent entity. It is perceived as an autosomal dominant disease, although women are more
frequently affected than men.
This condition remains difficult to diagnose due to variable clinical expressions,
the largely undisclosed genetic origin, and the possible correction in joint laxity
during aging and various degenerative disorders. Somewhat EDSH is clinically identified by joint laxity, and moderate skin hyperextensibility.
Dermatol Open J. 2016; 1(1): 22-26. doi: 10.17140/DRMTOJ-1-107
