Darier disease: Histopathology revisited.

Indian J Pathol Microbiol

Department of Pathology, St. John's Medical College, Bengaluru, Karnataka, India.

Published: July 2024

AI Article Synopsis

  • Darier disease (DD) is a rare genetic skin condition primarily documented through case reports, prompting a study to systematically examine its histopathologic features in skin biopsies over 12 years.* -
  • The study reviewed biopsies from 16 patients, primarily in their 30s, revealing common symptoms like hyperpigmented papules and plaques, with notable histological features including suprabasal acantholytic clefts and various unusual patterns.* -
  • The study emphasizes the importance for pathologists to recognize the diverse histopathological variations of DD, particularly in atypical cases, while acknowledging its limitation due to a small sample size.*

Article Abstract

Darier disease (DD) is a rare genodermatosis. Literature on this topic is overwhelmingly dominated by case reports with rare clinical presentations, which have mentioned the histopathologic features briefly. The aim of this study was to document the histopathology of DD. Skin biopsies diagnosed as Darier disease based on clinicopathologic correlation over 12 years were reviewed for various epidermal and dermal features. There were 16 patients included, who most commonly presented in the third decade, with slight female predilection. The most common clinical presentation was hyperpigmented, hyperkeratotic, papules and plaques (91%), with 69% affecting the trunk. In addition to the classic suprabasal acantholytic clefts, we noted some unusual features: absence of parakeratosis (19%), a cornoid lamella-like pattern (62%), follicular acantholysis (13%) and multiple foci of involvement within a single biopsy (63%). Features such as the presence of dyskeratotic cells and minimal dermal lymphocytic infiltrates were concordant with previous literature. The limitation of this study was the small sample size. To conclude, pathologists must be aware of the variations in histopathology of Darier's disease, especially when challenged with atypical clinical presentations. The Darier-like pattern is met within several acantholytic diseases, and clinicopathologic correlation has the last word in arriving at a diagnosis.

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Source
http://dx.doi.org/10.4103/ijpm.ijpm_610_23DOI Listing

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