Article
Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives.
Orphanet journal of rare diseases - 31 Jul 2020
Ritelli Marco, Venturini Marina, Cinquina Valeria, Chiarelli Nicola, Colombi Marina
Abstract excerpt
BACKGROUND: The Ehlers-Danlos syndromes (EDS) are rare connective tissue disorders consisting of 13 subtypes with overlapping features including joint hypermobility, skin and generalized connective tissue fragility. Classical EDS (cEDS) is principally caused by heterozygous COL5A1 or COL5A2 variants and rarely by the COL1A1 p.(Arg312Cys) substitution. Current major criteria are (1) skin hyperextensibility plus...
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