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Hypopigmented segmental Darier disease.

Catherine Besner Morin1, Elena Netchiporouk1, Robin C Billick1

  • 1Division of Dermatology, McGill University Health Centre, and Divisions of Dermatology and Pathology, Sir Mortimer B. Davis Jewish General Hospital, Montreal, QC.

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Summary
This summary is machine-generated.

This case study details a rare combined segmental and hypopigmented variant of Darier disease, a genetic skin disorder. The findings highlight a unique presentation in an African-Canadian female, expanding understanding of Darier disease variants.

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Area of Science:

  • Dermatology
  • Genetics
  • Rare Diseases

Background:

  • Darier disease is a genodermatosis linked to ATP2A2 gene mutations.
  • Classic presentation involves hyperkeratotic papules in seborrheic areas.
  • Known variants include hypopigmented and segmental forms.

Observation:

  • A 41-year-old African-Canadian female presented with a chronic, pruritic, hypopigmented eruption along Blaschko lines.
  • The eruption was resistant to multiple therapeutic interventions.
  • Histopathology revealed dyskeratosis with corps ronds and grains, acantholysis, and parakeratosis.

Findings:

  • The patient's presentation and histopathological findings confirmed a diagnosis of segmental hypopigmented Darier disease.
  • This case represents the first documented instance of a combined segmental and hypopigmented variant of Darier disease.
  • A comprehensive literature review of these variants was also conducted.

Implications:

  • This case expands the understanding of Darier disease phenotypic variability.
  • It highlights the importance of considering rare variants in recalcitrant dermatological conditions, particularly in diverse populations.
  • Further research into the genetic and clinical spectrum of Darier disease is warranted.