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Extensive blaschkoid hypopigmentation in a girl with MED12-related disorder

Cynthia X Wang1, Katherine B King2, Susan J Bayliss3

  • 1Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.

Pediatric Dermatology
|August 26, 2022
PubMed

Insights

MED12-related disorders are rare neurodevelopmental conditions. A case study highlights extensive hypopigmentation following Blaschko lines as a potential indicator of MED12-related disorder in a young child.

Area of Science:

  • Genetics
  • Developmental Biology
  • Dermatology

Background:

  • MED12-related disorders encompass a range of rare neurodevelopmental conditions.
  • These disorders are characterized by intellectual disability, distinctive facial features, and various systemic issues.

Observation:

  • A 21-month-old female patient presented with widespread skin hypopigmentation.
  • The observed hypopigmentation followed Blaschko lines, a pattern indicative of somatic mosaicism.

Findings:

  • The extensive hypopigmentation was attributed to an underlying MED12-related disorder.
  • This case suggests a potential link between MED12 mutations and specific dermatological manifestations.

Implications:

  • This finding expands the known clinical spectrum of MED12-related disorders.
  • Recognizing hypopigmentation patterns may aid in earlier diagnosis of these rare genetic conditions.

Keywords:
dermatologygenetic testinggeneticshypopigmentationmosaicism

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