Short description
Hypermobile Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders (HSD) are exclusion diagnoses. Both are aspecific phenotypes sharing joint hypermobility and minor soft tissue anomalies with monogenic connective tissue disorders. Therefore, molecular testing may be useful to confirm the diagnosis by excluding partially overlapping disorders within and outside the current nosology of Ehlers-Danlos syndromes and related disorders. The first presentation is focused on offering an overview of the clinical boundaries of hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders, and to describe the current molecular genetic diagnostics applied in the field of clinically relevant joint hypermobility.
The second presentation reports about the new acquisitions on morphological and functional aspects of peripheral microcirculation and skin layers in hypermobile EDS, as peripheral microcirculation was assessed for the first time in the literature and skin layers were previously poorly studied. Microvascular fragility is present also in hypermobile EDS as well as dermal thickness is thinner.
Speakers
Dr. Marco Castori is the Head of the Division of Medical Genetics, the Coordinator of the Rare Disease Program at the Hospital Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo - Foggia (Italy). In addition, Dr. Castori is a Member of ERN ReCONNET Working Group on Ehlers-Danlos Syndromes and ERN-SKIN as well.
Prof. Alberto Sulli is an Associate Professor of Rheumatology at IRCCS Ospedale Policlinico San Martino - Genova (Italy). Prof. Sulli is a Member of the ERN ReCONNET and in particular, he is a Disease Coordinator of the working group on Ehlers-Danlos Syndromes in ERN ReCONNET.
Professor of Rheumatology in several degree, postgraduate, and doctorate courses. Prof. Sulli is an Expert in the use of the Videocapillaroscopy and he is author/coauthor of 267 international scientific publications in indexed journals.
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reconnet.ern-net.eu/disease-eds/
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