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Pigmentary mosaicism.
1Division of Pediatric Dermatology, Hackensack Meridian School of Medicine, Hackensack, New Jersey, USA.
Pigmentary mosaicism involves skin color variations due to genetic differences in skin cells. This review updates knowledge on its causes, appearance, associated conditions, and management, aiding diagnosis.
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Area of Science:
- Dermatology
- Clinical Genetics
- Medical Genetics
Background:
- Pigmentary mosaicism presents as patterned hypo- and/or hyperpigmentation.
- Common patterns include streaks, swirls along Blaschko's lines, and block-like distributions.
- It arises from genetic heterogeneity within skin cells.
Purpose of the Study:
- To provide an updated overview of pigmentary mosaicism.
- To discuss genetic etiologies, clinical findings, and extracutaneous abnormalities.
- To outline diagnostic and management strategies.
Main Methods:
- Review of current scientific literature and clinical observations.
- Analysis of genetic testing technologies and their applications.
- Reappraisal of classic patterns based on scientific advances.
Main Results:
- Highlights diverse genetic causes and distinct clinicogenetic entities.
- Details cutaneous findings and potential extracutaneous associations.
- Provides practical diagnostic clues and differential diagnosis considerations.
Conclusions:
- Emphasizes the importance of updated terminology and clinicogenetic correlations.
- Stresses the role of advanced genetic testing in diagnosis.
- Offers a practical approach for evaluating patients with pigmentary mosaicism.