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Published on: June 1, 2017
Patterned pigmentation in children
1Department of Pediatrics, Section of Dermatology, University of Pennsylvania School of Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. treat@email.chop.edu
Insights
Pigmentary mosaicism presents a wide spectrum of conditions. Most children with localized pigmentary disorders (SegPD) show no systemic issues and are healthy.
Area of Science:
- Genetics
- Dermatology
- Pediatrics
Background:
- Pigmentary mosaicism, also known as patterned dyspigmentation, encompasses a broad range of clinical presentations.
- These range from localized skin pigment changes to widespread abnormalities affecting multiple organ systems.
Purpose of the Study:
- To outline the clinical spectrum of pigmentary mosaicism.
- To guide the evaluation and management of affected children, distinguishing between localized and widespread forms.
Main Methods:
- Clinical observation and case review.
- Analysis of patient data correlating pigmentary patterns with systemic findings.
Main Results:
- Localized pigmentary anomalies, such as segmental pigmentary disorder (SegPD), are typically associated with no systemic manifestations.
- Widespread dyspigmentation may correlate with neurologic, musculoskeletal, or cardiac abnormalities, necessitating close evaluation.
- Most children with SegPD and many with more widespread patterns are otherwise healthy.
Conclusions:
- A cautious but nuanced approach is essential for patients with pigmentary mosaicism.
- Children with widespread dyspigmentation, associated abnormalities, or developmental delays require thorough evaluation and subspecialty referral.
- Close clinical follow-up with primary care physicians is crucial for all children to ensure developmental milestones are met.
Abstract:
The terms pigmentary mosaicism or patterned dyspigmentation describe a spectrum of clinical findings that range from localized areas of dyspigmentation with no systemic findings to widespread dyspigmentation with associated neurologic, musculoskeletal, and cardiac abnormalities, and other sequelae that can lead to early demise. Given this wide spectrum, these patients must be approached with caution, but with the understanding that most who have localized pigmentary anomalies, such as segmental pigmentary disorder (SegPD) seem to have no systemic manifestations. These patients can be approached in many different ways, but generally children with more widespread dyspigmentation, and any with associated abnormalities or not meeting neurodevelopmental milestones, should be evaluated closely. Children with any red flags warrant subspecialty referral, and all children deserve close clinical follow-up with their primary care physician to ensure they meet all of their developmental milestones. Fortunately, parents can be reassured that most children with SegPD, and many with more widespread patterned pigmentation, are otherwise healthy.
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