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Updated: Jan 24, 2026
03:40
Three-Dimensional Printing of a Complex Aortic Anomaly
Published on: November 1, 2018
7.1K
[Syndromes with vascular skin anomalies]
1Klinik für Dermatologie und Venerologie, Universitätsklinikum Freiburg, Hauptstr. 7, 79104, Freiburg, Deutschland. rudolf.happle@uniklinik-freiburg.de.
Summary
Distinct capillary nevi are key diagnostic clues for complex genetic syndromes. This review aids dermatologists in recognizing and classifying these cutaneous markers for improved syndrome diagnosis.
Area of Science:
- Dermatology
- Medical Genetics
- Clinical Diagnostics
Background:
- Complex genetic syndromes often present with diverse capillary nevi.
- These cutaneous markers can serve as crucial diagnostic indicators.
Purpose of the Study:
- To equip practicing dermatologists with the ability to recognize and classify capillary nevi.
- To enhance the diagnostic capabilities for genetic syndromes associated with cutaneous markers.
Main Methods:
- Comprehensive literature review.
- Analysis of personal clinical observations.
- Description of 14 distinct syndromes linked to capillary nevi.
Main Results:
- Identified specific capillary nevi associated with syndromes like Sturge-Weber (GNAQ), Proteus type (AKT1), PIK3CA-related overgrowth spectrum (PROS), and neurofibromatosis 1.
- Detailed 14 syndromes with recognizable capillary nevi, including cutis marmorata telangiectatica congenita and Carter-Mirzaa macules (STAMBP).
Conclusions:
- Molecular basis for all capillary nevi-associated syndromes is not fully understood.
- Dermatologists can contribute to advancing knowledge by consulting experts on challenging cases.
- Highlights the ongoing need for molecular elucidation in syndrome diagnosis.
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