Skin biopsy reveals generalized small fibre neuropathy in hypermobile Ehlers-Danlos syndromes.
Denver IgharoJoana C ThielRoman RolkeMerve AkkayaJoachim WeisIstvan KatonaJörg B SchulzAndrea B MaierPublished in: European journal of neurology (2022)
These results confirm histologically proven SFN as a common feature in patients with hEDS revealing a generalized distribution of nerve fibre loss. Regarding the frequently reported autonomic and neuropathic dysfunctions, the findings support SFN as an important, but not the only, underlying pathomechanism.