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Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy)

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Neurocutaneous Disorders

Abstract

Menkes disease, also known as kinky hair disease (OMIM 309400), is a lethal X-linked recessive neurodegenerative disease of impaired copper transport. Menkes first described the disease in 1962, followed by Danks’ keen observation in 1973. The incidence of Menkes disease in Europe is approximately 1 in 300,000 live births, caused by mutations in the Xq13.3 gene ATP7A. Clinical symptoms, in addition to pili torti (kinky hair), begin at 2–3 months of age with loss of developmental milestones, truncal hypotonia, seizures, urologic problems, recurrent infections, and failure to thrive. Milder variants of Menkes disease include the occipital horn syndrome (also known as X-linked cutis laxa or Ehlers-Danlos type 9). The clinical characteristics, pathophysiology, diagnosis, and management options are reviewed in this chapter.

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Author information

Authors and Affiliations

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

    Christos P. Panteliadis

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

    Christian Hagel

Authors
  1. Christos P. Panteliadis
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  2. Christian Hagel
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Correspondence to 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., Hagel, C. (2022). Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy). In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_43

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  • DOI: https://doi.org/10.1007/978-3-030-87893-1_43

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-87892-4

  • Online ISBN: 978-3-030-87893-1

  • eBook Packages: MedicineMedicine (R0)

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