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Syndrome mit vaskulären Anomalien der Haut

Syndromes with vascular skin anomalies

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Zusammenfassung

Hintergrund

Bei vielen komplexen genetischen Syndromen stellen unterschiedliche vaskuläre Nävi oft ein wichtiges diagnostisches Merkmal dar.

Ziel der Arbeit

In der Praxis tätige Dermatologen sollen in die Lage versetzt werden, diese kutanen Zeichen zu erkennen und einzuordnen.

Material und Methoden

Anhand der Literatur und eigener Beobachtungen beschreibt diese Übersicht 14 verschiedene Syndrome, bei denen unterschiedliche kapilläre Nävi vom Dermatologen als Leitsymptom erkannt werden können.

Ergebnisse

Die folgenden Kapillarnävi lassen sich in der Syndromdiagnostik unterscheiden: Naevus flammeus des Sturge-Weber-Syndroms (GNAQ); Portweinnävus vom Proteus-Typ (AKT1); Portweinnävus vom Typ „PIK3CA-related overgrowth spectrum“ (PROS); medianer Portweinfleck vom PROS-Typ; retikulärer Kapillarnävus als Hinweis auf das Megalenzephalie-Kapillarnävus-Syndrom, das ebenfalls zum PROS gezählt wird; Cutis marmorata teleangiectatica congenita (Van-Lohuizen-Syndrom); Naevus roseus; Naevus vascularis mixtus; rhodoider Nävus (RASA1); Naevus anaemicus als Hinweis auf Neurofibromatose 1; Carter-Mirzaa-Flecken (STAMBP).

Schlussfolgerung

Eine diagnostische Schwierigkeit besteht darin, dass noch längst nicht alle mit Kapillarnävi assoziierten Syndrome molekular aufgeklärt sind. Aus diesem Grund haftet dieser Übersicht etwas Vorläufiges an. Anderseits besteht für praktisch tätige Dermatologen die faszinierende Möglichkeit, die weiteren molekulargenetischen Fortschritte auf diesem Gebiet dadurch voranzutreiben, dass sie angesichts ungewöhnlicher vaskulärer Anomalien den Spezialisten aus Dermatologie, Pädiatrie und Humangenetik jene Fragen stellen, die für eine molekulare Syndromerkennung wichtig sind.

Abstract

Background

In many complex genetic syndromes, various distinct capillary nevi may serve as diagnostic clues.

Objective

To render dermatologists in practice capable of recognizing and classifying such cutaneous markers.

Material and methods

On the basis of the literature and own observations, this review describes 14 different syndromes associated with capillary nevi that can be recognized by dermatologists as a diagnostic indication.

Results

The following capillary nevi can be distinguished for syndrome recognition: nevus flammeus of the Sturge-Weber syndrome (GNAQ), port-wine nevus of the Proteus type (AKT1), port-wine nevus of the PIK3CA-related overgrowth spectrum (PROS) type, midfacial port-wine patch of the PROS type, reticulate capillary nevus heralding megalencephaly-capillary nevus syndrome that is likewise part of PROS, cutis marmorata telangiectatica congenita (van Lohuizen syndrome), nevus roseus, nevus vascularis mixtus, rhodoid nevus (RASA1), nevus anemicus as a diagnostic indication of neurofibromatosis 1 and Carter-Mirzaa macules (STAMBP).

Conclusion

A diagnostic difficulty lies in the fact that not all syndromes associated with capillary nevi have been elucidated at the molecular level. For this reason, the preliminary dimension of the present review should be borne in mind. On the other hand, dermatologists in practice now have the fascinating chance to stimulate further advances in this particular field of knowledge by asking experts in dermatology, pediatrics or medical genetics how to solve the problem of molecular syndrome recognition in a puzzling case.

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Authors and Affiliations

  1. Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland

    Rudolf Happle

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Correspondence to Rudolf Happle.

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Für diesen Beitrag wurden vom Autor keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Happle, R. Syndrome mit vaskulären Anomalien der Haut. Hautarzt 70, 474–480 (2019). https://doi.org/10.1007/s00105-019-4418-4

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