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Ehlers-Danlos Syndrome

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Neurocutaneous Disorders

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Abstract

Ehlers-Danlos syndrome (EDS) is an uncommon heterogeneous group of inherited connective tissue fragility disorders. It afflicts approximately 1 in 5000 to 10,000 live births in an autosomal recessive fashion. Mutations in the COL5A1 (collagen, type V, alpha 1) and the COL5A2 gene, encoding for type V collagen and defect in the lysyl hydroxylase pathway are implicated. The disorder was recognized even during the time of Hippocrates and the first description in 1891. Clinical features primarily involve the skin, joints, blood vessels and internal organs. Secondary symptoms include fatigue, sleep disturbances, chronic pain, bowel dysfunction, haemorrhages and psychological ailments. Making the correct diagnosis is complicated because of the variability in symptomatology.

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Authors and Affiliations

  1. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

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  1. Christos P. Panteliadis
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Editors and Affiliations

  1. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

  2. Department of Neurology, University of Washington, Seattle, WA, USA

    Ramsis Benjamin

  3. Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Christian Hagel

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Panteliadis, C.P. (2022). Ehlers-Danlos Syndrome. In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_36

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  • DOI: https://doi.org/10.1007/978-3-030-87893-1_36

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-87892-4

  • Online ISBN: 978-3-030-87893-1

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