Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results
V. 171 N. 5 (2020), Research article
V. 171 N. 5 (2020)

Ultrastructure study of skin fibroblasts in patients with Ehlers-Danlos Syndrome (EDS): preliminary results: doi: 10.7417/CT.2020.2253

Research article
Pubblicato 2020-09-09
M. Celli
Department of Pediatrics, “Sapienza”, University of Rome, Rome
C. Iacovino
Dermatologic Clinic, “Sapienza” University of Rome, Rome
A. Febbo
Department of Pediatrics, “Sapienza”, University of Rome, Rome
L. V. Lotti
Department of Experimental Medicine, “Sapienza” University of Rome, Rome
E. Miraglia
Dermatologic Clinic, “Sapienza” University of Rome, Rome
L. Celli
Department of Pediatrics, “Sapienza”, University of Rome, Rome
V. Roberti
Dermatologic Clinic, “Sapienza” University of Rome, Rome
A. Sernicola
Dermatologic Clinic, “Sapienza” University of Rome, Rome
A. Zambrano
Department of Pediatrics, “Sapienza”, University of Rome, Rome
A. Turchetti
Department of Pediatrics, “Sapienza”, University of Rome, Rome
S. Vespa
Center of Sciences on Aging and Translational Medicine (CeSI-MeT), “G. d’Annunzio” University, Chieti, Italy
S. Giustini
Dermatologic Clinic, “Sapienza” University of Rome, Rome
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Parole chiave

Ehlers-Danlos Syndrome (EDS)
Fibroblast
Myofibroblast
α-Smooth Muscle Actin (αSMA), Skin biopsy

Abstract

Aim of the study
To investigate, in vivo and in vitro, the fibroblast-to-myofibroblast transition in patients with hypermobile Ehlers-Danlos Syndrome (EDS). To analyze the dermis of patients with classical form of EDS (cEDS) and with hEDS, to identify qualitative and/or quantitative differences in ECM component and ultrastructural changes in collagen.

Materials and methods
Seven subjects, aged over 18, two with cEDS and five with hEDS underwent two skin biopsy. One sample was prepared for transmission electron microscopy (TEM), the other for immunofluorescence. The diameter of collagen fibers was measured with TEM. Fibrils were analyzed in four patients: the two with cEDS and two with hEDS. For each patient, the diameter of n=250 collagen fibrils was measured. αSMA was used as specific marker for myofibroblast to highlight their presence in vivo in the skin of patients with hEDS.

Results
IF observation could not assess an increased expression of αSMA in hEDS patients, which showed no statistical difference compared to classic form patients. The major result from the analysis of TEM images is the clear difference in ECM composition between the two forms of EDS: ECM in hEDS is optically more dense and more prominently composed of elastic fibers.

Conclusions
Our study provides the following important evidence: 1) the absence in vivo of dermal fibroblasts in patients with hEDS, demonstrated by αSMA negativity; 2) the presence of statistically significant changes in the diameter of collagen fibrils between the classic and the hypermobile forms

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