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

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Summary

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.

Keywords:
geneticshypomelanosis of Itohypopigmentationmosaicism

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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.