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Segmental Darier's disease: A case report
Elena Pastukhova1, Lauren LaBerge1,2
1Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada.
SAGE Open Medical Case Reports
|April 10, 2023
Summary
Segmental Darier's disease, a rare genetic skin disorder, presents as a localized rash along Blaschko lines. Treatment with oral retinoids like acitretin can significantly improve patient outcomes.
Area of Science:
- Dermatology
- Genetics
- Molecular Biology
Background:
- Darier's genodermatosis is a rare inherited skin disorder.
- Segmental Darier's disease is an uncommon subtype caused by early embryogenesis mutations in ATPase type 2.
- It manifests as a pruritic, papular eruption following Blaschko lines.
Observation:
- Histopathology reveals acantholysis, dyskeratosis, and corps ronds.
- Segmental Darier's disease can mimic other acantholytic Blaschkolinear dermatoses.
- A 48-year-old male presented with chronic localized papular eruption in a Blaschkoid distribution.
Findings:
- The patient was diagnosed with segmental Darier's disease.
- Significant clinical improvement was observed after treatment with acitretin.
- This highlights the efficacy of systemic retinoid therapy in managing this condition.
Implications:
- Accurate clinical and histological recognition of segmental Darier's disease is crucial for appropriate management.
- Early diagnosis and treatment can prevent disease progression and improve quality of life.
- Further research into genetic mutations and targeted therapies for Darier's genodermatosis subtypes is warranted.
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