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Updated: Jul 15, 2026
Generation of Self-assembled Vascularized Human Skin Equivalents
Published on: February 12, 2021
A four-generation Ehlers-Danlos syndrome with vascular dissections. Skin ultrastructure and biomechanical properties
C Flagothier1, V Goffin, T Hermanns-Lê
1Department of Dermatopathology, University Hospital Sart Tilman, Liège, B-4000, Belgium.
Insights
This study reveals distinct collagen alterations in Ehlers-Danlos syndrome (EDS) patients, correlating with varied skin biomechanical changes. These findings may offer insights into predicting risks for large vessel dissections in affected families.
Area of Science:
- Connective tissue disorders
- Dermatology
- Genetics
Background:
- Ehlers-Danlos syndrome (EDS) presents significant heterogeneity in genetic, clinical, and molecular aspects.
- Connective tissue properties, including skin biomechanics and microscopic features, vary widely among EDS subtypes.
- Large vessel dissections are a serious complication associated with certain EDS forms.
Purpose of the Study:
- To investigate the relationship between collagen structure and skin biomechanical properties in a family with EDS.
- To characterize the morphological and biomechanical alterations in skin of individuals with EDS.
- To explore potential correlations between skin changes and the risk of large vessel dissections.
Main Methods:
- Clinical examination of nine relatives across four generations with suspected EDS.
- Skin biomechanical measurements using a computerized suction device (Cutometer).
- Histopathological and ultrastructural analysis of skin collagen and dermal dendrocytes.
Main Results:
- All examined subjects displayed morphological and biomechanical alterations consistent with EDS.
- Skin showed a loose collagen network with abnormal elastic fibers; dermal dendrocytes were rarefied in some.
- Increased biologic elasticity without excess skin extensibility was observed, correlating positively with skin extensibility.
Conclusions:
- Specific alterations in the collagen scaffolding are linked to variable biomechanical skin changes in EDS.
- The severity of ultrastructural collagen alterations correlates with the degree of biomechanical skin changes.
- Further research is needed to determine the predictive value of these skin alterations for large vessel dissections in at-risk families.
Abstract:
Ehlers-Danlos syndrome (EDS) is heterogenous with regard to genetic traits, clinical manifestation, the biomechanical and microscopic properties of connective tissues, and basic molecular defects. We report on nine relatives of four generations who suffered from large vessel dissections and cutaneous microscopic changes consistent with EDS. Measurements of the mechanical properties of skin were performed using a computerized suction device (Cutometer). Morphological and biomechanical alterations suggestive of EDS were present in all examined subjects. A loose network of collagen bundles was admixed with clumsy elastic fibres. Factor XIIIa-positive dermal dendrocytes looked almost normal but were slim and rarefied in four subjects. The severity in ultrastructural alterations of the collagen network differed among the subjects. The group with the most prominent changes showed the most striking biomechanical alterations characterized by increased biologic elasticity without any excess in skin extensibility. A positive correlation was found between skin extensibility and elasticity. In conclusion, distinct alterations in the collagen scaffolding were found to be correlated to variable severity in biomechanical alterations of the skin. The predictive value of these changes for large vessel dissections in some families at risk remains to be settled.
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