Kinder- und Jugendmedizin 2007; 7(05): 247-256
DOI: 10.1055/s-0038-1625673
Dermatologie
Schattauer GmbH

Neue Erkenntnisse zum Thema Ichthyose[*]

What is new in ichthyosis?
Vinzenz Oji
1   Universitätshautklinik Münster (Direktor: Prof. Dr. med. T. Luger)
,
Heiko Traupe
1   Universitätshautklinik Münster (Direktor: Prof. Dr. med. T. Luger)
› Author Affiliations
Further Information

Publication History

Eingegangen: 03 April 2007

angenommen: 15 May 2007

Publication Date:
10 January 2018 (online)

Zusammenfassung

Ichthyosen umfassen eine ätiologisch heterogene Gruppe von Verhornungsstörungen, die die gesamte Haut betreffen und durch sichtbare Schuppung und Verdickung der Hornhaut charakterisiert sind. Häufig besteht zusätzlich ein Erythem. Neben der Unterteilung in kongenital und nicht-kongenital unterscheidet man isolierte Ichthyosen, wie die X-chromosomal rezessive Ichthyose oder lamelläre Ichthyose, von Ichthyose-Syndromen, wie das Comèl-Netherton- oder Sjögren-Larsson-Syndrom. Kongenitale Ichthyosen sind selten und manifestieren sich unter dem Bild eines Kollodiumbabys oder als kongenitale ichthyosiforme Erythrodermie. In den letzten Jahren wurden erneut wichtige Meilensteine der Ichthyoseforschung passiert, z. B. die molekulargenetische Aufklärung der Harlekin-Ichthyose und Ichthyosis vulgaris. Trotz meist fehlender kausaler Therapiemöglichkeit stellt die verbesserte Diagnostik einen großen Gewinn für Betroffene dar. Darüber hinaus existieren mannigfache symptomatische Therapieoptionen. Hilfreiche Organisationen in Deutschland stellen die Selbsthilfe Ichthyose e. V. (www.ichthyose.de) und das Netzwerk für Ichthyose und verwandte Verhornungsstörungen (NIRK) (www.netzwerk-ichthyose.de) dar.

Summary

Ichthyoses comprise a heterogeneous group of cornification disorders which affect the entire skin and are characterized by visible scaling and a thickening of the stratum corneum. In addition, in many cases an erythema of the skin can be seen. From a nosologic point of view it is useful to distinguish congenital from non-congenital types and to separate isolated types of ichthyosis such as X-linked recessive ichthyosis or lamellar ichthyosis from ichthyosis syndromes such as Comèl-Netherton or Sjögren-Larsson syndrome. Congenital ichthyoses are uncommon and present at birth either the features of collodion baby or those of congenital ichthyosiform erythroderma. Recently, new molecular genetic insights were obtained in Harlequin ichthyosis and in ichthyosis vulgaris. Although in the vast majority of cases a causative therapy is still lacking, advances in the molecular and biochemical diagnosis clearly benefit those persons who are affected by ichthyosis. Moreover, manifold symptom relieving therapy options exist. In Germany, structures that provide help with diagnosis and management of these rare disorders are the patient organization Selbsthilfe Ichthyose e. V. (www.ichthyose.de) and the network for ichthyoses and related keratinization disorders (NIRK) (www.netzwerk-ichthyose.de).

* Wir widmen diese Arbeit unserem langjährigen Freund und Kollegen Prof. Dr. med. Wolfgang Küster, der unerwartet am 24. Juli 2006 verstorben ist.


 
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