title: Ehlers-Danlos syndrome: case report and an electron microscopy study.
abstract: Ehlers-Danlos syndrome (EDS) type III is a inherited connective tissue disorders characterized by extensibility of the skin, hypermobility of the joints, chronic pain, tissue fragility, easy bruising, and delayed wound healing with result of atrophic scars. The patients report commonly a history of recurrent dislocations of the shoulders and knees after low-impact trauma, chronic joint pain, and early osteoarthritis, which lead to diagnosis. The pathogenesis of this condition is unknown, and the diagnosis is generally made in adult age, based only on clinical criteria. In this report, we describe a case of a 50-year-old woman with a 30-year history of recurrent dislocations and atrophic scars. We performed diagnosis of EDS type III after a complete clinical and instrumental evaluation, comprising of histological and electron microscopic studies, that highlighted collagen abnormalities.
authors.affiliation: Dermatology Unit, S. Andrea Hospital, II School of Medicine, University of Rome Sapienza, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Carlesimo
authors.forename: G
authors.initials: G
authors.lastname: Cortesi
authors.forename: A
authors.initials: A
authors.lastname: Gamba
authors.forename: A
authors.initials: A
authors.lastname: Narcisi
authors.forename: F
authors.initials: F
authors.lastname: Turturro
authors.forename: S
authors.initials: S
authors.lastname: Raffa
authors.forename: M R
authors.initials: MR
authors.lastname: Torrisi
authors.forename: G
authors.initials: G
authors.lastname: Camplone
mesh_terms: D001706:Biopsy; D020405:Dermis / Q000648:ultrastructure*; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D024022:Fibrillar Collagens / Q000648:ultrastructure*; D006801:Humans; D004204:Joint Dislocations / Q000209:etiology; D007593:Joint Instability / Q000209:etiology; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D011237:Predictive Value of Tests; D012008:Recurrence
chemical_list: D024022:Fibrillar Collagens