Dermoscopy of Zosteriform and Swirling Pattern Type 1 Segmental Darier Disease

Area of Science:

• Dermatology
• Genetics
• Pathology

Background:

• Segmental Darier disease (DD) is a rare genodermatosis with fewer than 40 reported cases.
• It is hypothesized to result from post-zygotic somatic mutations in the ATP2A2 gene, affecting the calcium ATPase pump.
• Type 1 segmental DD follows Blaschko's lines unilaterally, while Type 2 presents as focal lesions in generalized DD.

Observation:

• Two cases of Type 1 segmental DD are presented in women aged 43 and 62.
• Lesions included pruritic, keratotic papules on the abdomen, arranged linearly or in a zosteriform pattern.
• Dermoscopy revealed characteristic polygonal/roundish yellowish-brown areas with whitish structureless zones.

Findings:

• Clinical and histopathological correlation confirmed Type 1 segmental DD.
• Dermoscopy proved valuable in differentiating from other papular dermatoses.
• Treatment with topical tretinoin or adapalene cream resulted in significant improvement.

Implications:

• Dermoscopy aids in the diagnosis of segmental Darier disease, especially when clinical presentation is atypical.
• Early diagnosis and management can improve patient outcomes for this rare condition.
• Further research into the genetic basis and therapeutic strategies for segmental DD is warranted.