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Pigmentierte Flecken als mögliche Frühzeichen genetischer Syndrome

Pigmented macules as possible early signs of genetic syndromes

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Zusammenfassung

Einzelne kongenitale oder in früher Kindheit auftretende Pigmentflecken sind unbedeutend, in Mehrzahl, bei großer oder einem Muster folgender Ausdehnung sind sie jedoch nicht selten erstes Anzeichen eines zugrunde liegenden genetischen Syndroms. Der vorliegende Beitrag gibt einen Überblick über die klinische Signifikanz multipler Café-au-lait-Flecken, multipler Lentigines und von Pigmentmosaiken und diskutiert die Differenzialdiagnose hiermit assoziierter Syndrome. Deren Frühdiagnose, an der der Dermatologe entscheidenden Anteil haben kann, ist nicht nur für die Erbberatung wichtig, sondern kann auch zur Vermeidung z. T. lebensbedrohlicher Komplikationen beitragen.

Abstract

Solitary congenital or early apparent pigmented macules are usually without relevance; however, when multiple, extensive or in a patterned arrangement, they are not uncommonly the first sign of an underlying genetic syndrome. The present article gives an overview on the clinical significance of multiple café-au-lait macules, multiple lentigines and pigmentary mosaicism and discusses the differential diagnosis of associated syndromes. Early diagnosis with the essential contribution of the dermatologist is not only important for genetic counseling but can also contribute to avoidance of sometimes life-threatening complications.

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Danksagung

Wir danken unserem Klinikfotografen, Herrn Gerhard A. Krämer, für die Anfertigung der klinischen Aufnahmen.

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Authors and Affiliations

  1. Klinik und Poliklinik für Dermatologie, Venerologie und Allergologie, Universitätsklinikum Würzburg, Josef-Schneider-Str. 2, 97080, Würzburg, Deutschland

    H. Hamm, K. Emmerich & J. Olk

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  1. H. Hamm
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  2. K. Emmerich
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Correspondence to H. Hamm.

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H. Hamm, K. Emmerich und J. Olk geben an, dass kein Interessenkonflikt besteht.

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Hamm, H., Emmerich, K. & Olk, J. Pigmentierte Flecken als mögliche Frühzeichen genetischer Syndrome. Hautarzt 70, 506–513 (2019). https://doi.org/10.1007/s00105-019-4416-6

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