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Patterned cutaneous hypopigmentation phenotype characterization: A retrospective study in 106 children

Eugénie Belzile1, Catherine McCuaig1, Jean-Baptiste Le Meur2

  • 1Division of Pediatric Dermatology, Department of Pediatrics, Sainte-Justine University Hospital Centre, University of Montreal, Montreal, Quebec, Canada.

Pediatric Dermatology
|July 31, 2019
PubMed

Insights

Cutaneous patterned hypopigmentation, often following Blaschko's lines, can be linked to extracutaneous anomalies, particularly when affecting multiple body sites. Further monitoring is recommended for early detection.

Area of Science:

  • Dermatology
  • Clinical Genetics
  • Pediatrics

Background:

  • Cutaneous patterned hypopigmentation exhibits variable phenotypes and can be associated with extracutaneous anomalies.
  • Understanding these patterns is crucial for diagnosing underlying conditions.

Purpose of the Study:

  • To evaluate phenotypic and clinical characteristics of patients with cutaneous patterned hypopigmentation.
  • To determine if specific hypopigmentation patterns correlate with extracutaneous anomalies.

Main Methods:

  • Retrospective chart review of 106 children diagnosed with cutaneous patterned hypopigmentation between 2007-2018.
  • Data collected included patient demographics, lesion patterns, distribution, and presence of extracutaneous findings.
  • Phenotypic information was analyzed using specialized software.

Main Results:

  • The most common patterns were hypopigmentation along Blaschko's lines (narrow and broad bands).
  • Anterior and posterior trunk involvement was most frequent.
  • Extracutaneous anomalies, particularly neurological and developmental, were observed in 28.3% of patients and associated with involvement of four or more body sites.

Conclusions:

  • Hypopigmentation patterns alone are not strong predictors of extracutaneous findings.
  • Multiple site involvement and specific lesion types (centrofacial, blocklike) may indicate associated anomalies.
  • Continued follow-up is essential for identifying subtle extracutaneous issues.
Abstract

Keywords:
geneticshypomelanosis of Itohypopigmentationmosaicism

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