title: Dermal ultrastructure in low Beighton score members of 17 families with hypermobile-type Ehlers-Danlos syndrome.
abstract: The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.
authors.affiliation: Department of Dermatopathology, University Hospital Sart Tilman, 4000 Liège, Belgium.
authors.forename: Trinh
authors.initials: T
authors.lastname: Hermanns-Lê
authors.forename: Marie-Annick
authors.initials: MA
authors.lastname: Reginster
authors.forename: Claudine
authors.initials: C
authors.lastname: Piérard-Franchimont
authors.forename: Philippe
authors.initials: P
authors.lastname: Delvenne
authors.forename: Gérald E
authors.initials: GE
authors.lastname: Piérard
authors.forename: Daniel
authors.initials: D
authors.lastname: Manicourt
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004535:Ehlers-Danlos Syndrome / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000235:genetics / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D012720:Severity of Illness Index; D012867:Skin / Q000473:pathology* / Q000648:ultrastructure*; D013577:Syndrome; D055815:Young Adult