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Progeroide autosomal-rezessive Cutis-laxa-Syndrome

Autosomal recessive cutis laxa syndromes with progeroid features

Zusammenfassung

Alle autosomal-rezessiven Cutis-laxa-Syndrome haben mehr oder weniger ausgeprägte progeroide Züge. Sie zeigen als Gemeinsamkeit Veränderungen des Bindegewebes, die u. a. zu faltiger, schlaffer Haut führen, und eine unterschiedlich starke Reduktion der Knochenmineraldichte. Daneben können je nach Typ zusätzlich Haarveränderungen, kardiovaskuläre, neurologische, gastrotintestinale und urologische Symptome bestehen. Dieser Artikel gibt eine Übersicht über die klinischen Charakteristika, die Gendefekte und den momentanen Wissensstand bezüglich der Mechanismen.

Abstract

All autosomal recessive cutis laxa syndromes display more or less pronounced progeroid features. Common hallmarks include the altered connective tissue that underlies the wrinkled, lax skin and a variable reduction in bone mineral density. Depending on the subtype, other symptoms such as abnormal hair or cardiovascular, neurological, gastrointestinal and urological problems may arise. This article gives an overview of the clinical characteristics, gene defects and current knowledge concerning their pathological mechanisms.

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Correspondence to U. Kornak.

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Kornak, U. Progeroide autosomal-rezessive Cutis-laxa-Syndrome. medgen 24, 273–278 (2012). https://doi.org/10.1007/s11825-012-0353-9

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Schlüsselwörter

  • Mikrofibrilläres Protein
  • Golgi-Apparat
  • Glykosylierung
  • Katarakt
  • Mitochondrium

Keywords

  • Microfibrillar protein
  • Golgi apparatus
  • Glycosylation
  • Cataract
  • Mitochondrium