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      The dermatological aspects of hEDS in women

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          Abstract

          Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders that may present with a wide range of multisystemic symptoms. Hypermobile EDS, one of 13 identified subtypes of EDS, is the only variant without a known associated genetic mutation. A review of the literature suggests the five primary dermatological changes associated with hypermobile EDS are soft skin, atrophic cutaneous scars, piezogenic papules, hyperextensive stretchability, and hematomas. Our paper will address these cutaneous manifestations and delve into how they affect patients (primarily women). Possible consequences and treatment options for these different dermatological changes, as well as other skin manifestations such as livedo reticularis and elastosis perforans serpiginosa, will also be further explored.

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          Most cited references31

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          The 2017 international classification of the Ehlers-Danlos syndromes.

          The Ehlers-Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Over the past two decades, the Villefranche Nosology, which delineated six subtypes, has been widely used as the standard for clinical diagnosis of EDS. For most of these subtypes, mutations had been identified in collagen-encoding genes, or in genes encoding collagen-modifying enzymes. Since its publication in 1998, a whole spectrum of novel EDS subtypes has been described, and mutations have been identified in an array of novel genes. The International EDS Consortium proposes a revised EDS classification, which recognizes 13 subtypes. For each of the subtypes, we propose a set of clinical criteria that are suggestive for the diagnosis. However, in view of the vast genetic heterogeneity and phenotypic variability of the EDS subtypes, and the clinical overlap between EDS subtypes, but also with other HCTDs, the definite diagnosis of all EDS subtypes, except for the hypermobile type, relies on molecular confirmation with identification of (a) causative genetic variant(s). We also revised the clinical criteria for hypermobile EDS in order to allow for a better distinction from other joint hypermobility disorders. To satisfy research needs, we also propose a pathogenetic scheme, that regroups EDS subtypes for which the causative proteins function within the same pathway. We hope that the revised International EDS Classification will serve as a new standard for the diagnosis of EDS and will provide a framework for future research purposes. © 2017 Wiley Periodicals, Inc.
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            Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.

            The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiation and describes multiple associated symptoms and disorders. The current EDS nosology combines these two entities into the hypermobile type of EDS. Herein, we review and summarize the literature as a better clinical description of this type of connective tissue disorder. © 2017 Wiley Periodicals, Inc.
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              Hemostatic drugs.

              P Mannucci (1998)
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                Author and article information

                Contributors
                Journal
                Int J Womens Dermatol
                Int J Womens Dermatol
                International Journal of Women's Dermatology
                Elsevier
                2352-6475
                29 January 2021
                June 2021
                29 January 2021
                : 7
                : 3
                : 285-289
                Affiliations
                [a ]New York Institute of Technology College of Osteopathic Medicine, Old Westbury, NY, United States
                [b ]FAAD, Samaritan Medical Center, Watertown, NY, United States
                [c ]FACOFP, New York Institute of Technology, College of Osteopathic Medicine, Ehlers–Danlos Syndrome/Hypermobility Treatment Center, Old Westbury, NY, United States
                Author notes
                [* ]Corresponding author. cedimo@ 123456nyit.edu
                [1]

                Co-second authors.

                Article
                S2352-6475(21)00022-8
                10.1016/j.ijwd.2021.01.020
                8243129
                34222585
                a5464d31-7255-4e5a-be43-53c370769cd4
                © 2021 The Authors

                This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

                History
                : 16 September 2020
                : 15 December 2020
                : 20 January 2021
                Categories
                Review

                ehlers–danlos,ehlers–danlos syndrome,skin manifestations,piezogenic pedal papule,livedo reticularis,elastosis perforans serpiginosa

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