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Kindler-Syndrom

Eine neue bullöse Dermatose

Kindler syndrome

A new bullous dermatosis

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Zusammenfassung

Das Kindler-Syndrom ist eine neue Form der Epidermolysis bullosa hereditaria und die erste Genodermatose, die durch einen Defekt der fokalen Adhäsionen verursacht wird. Kindlin-1, das defiziente Protein, spielt eine essenzielle Rolle in der Aktivierung von Integrinen und in der Adhäsion der Keratinozyten an die extrazelluläre Matrix. Der Adhäsionsdefekt führt zu einer Blasenbildung der Haut, die bei Geburt beginnt und mit zunehmendem Alter abnimmt, und zu einer Fragilität und Vernarbung der Schleimhäute. Progressiv bilden sich eine ausgedehnte Hautatrophie und Poikilodermie. Die Lichtempfindlichkeit ist meistens gering ausgeprägt. Plattenepithelkarzinome an sonnenexponierten Arealen entwickeln sich überwiegend nach der 5. Lebensdekade. Das Kindler-Syndrom wird oft als Epidermolysis bullosa simplex mit „mottled pigmentation“ oder als Epidermolysis bullosa dystrophica fehldiagnostiziert. Die Behandlung ist symptomatisch und erzielt die Prävention der Komplikationen.

Abstract

The Kindler syndrome is a new form of inherited epidermolysis bullosa and the first genodermatosis caused by a defect of the focal adhesions. Kindlin-1, the deficient protein, plays an essential role in integrin activation and in the adhesion of keratinocytes to the extracellular matrix. The adhesion defect leads to skin blistering which begins at birth and ameliorates with age, and to mucosal fragility which leads to scarring and stricture formation. Skin atrophy and poikiloderma develop progressively. Photosensitivity is rather mild, but squamous cell carcinomas develop on sun-exposed areas mainly after the age of 40 years. The most important differential diagnoses are epidermolysis bullosa with mottled pigmentation and dystrophic epidermolysis bullosa. Management aims to treat the symptoms and prevent complications.

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  1. Universitäts–Hautklinik Freiburg, Hauptstraße 7, 79104, Freiburg, Deutschland

    C. Has

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  1. C. Has
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Has, C. Kindler-Syndrom. Hautarzt 60, 622–626 (2009). https://doi.org/10.1007/s00105-008-1676-y

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