A Case of Segmental Darier Disease

Area of Science:

• Dermatology
• Genetics
• Molecular Biology

Background:

• Darier disease (DD), or Darier-White disease, is an autosomal dominant genodermatosis resulting from ATP2A2 gene mutations.
• It affects skin, nails, and mucous membranes, characterized by impaired calcium regulation and cellular adhesion.

Observation:

• A 40-year-old woman presented with a 3-year history of pruritic, unilateral keratotic papules on her trunk.
• Physical examination revealed scattered erythematous to light brown papules along her left flank and back.
• Skin biopsy showed acantholysis and dyskeratosis, with characteristic "corps ronds."

Findings:

• The patient was diagnosed with segmental Darier disease, localized form type 1, presenting unilaterally along Blaschko's lines.
• This localized form is uncommon, with distinct phenotypes differing from generalized DD in nail/mucosal involvement and family history.
• Histological findings confirmed acantholysis and dyskeratosis, consistent with DD.

Implications:

• Segmental DD should be considered in the differential diagnosis of dermatoses following Blaschko's lines.
• Treatment with topical retinoids, corticosteroids, and proper skincare led to significant clinical improvement and pruritus relief.
• Management strategies vary based on disease severity, including topical agents, oral retinoids, and other therapies.