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Dermoscopy Aids in the Diagnosis of Discoid Lupus Erythematosus

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Published on: May 16, 2025

Darier disease: A rare genodermatosis.

Hema Suryawanshi¹, Akshay Dhobley¹, Aparna Sharma²

¹Department of Oral Pathology and Microbiology, Chhattisgarh Dental College and Research Institute, Rajnandgaon, Chhattisgarh, India.

Journal of Oral and Maxillofacial Pathology : JOMFP

|September 22, 2017

Summary

This summary is machine-generated.

Darier disease (DD) is a rare genetic skin disorder caused by ATP2A2 gene mutations. This case highlights typical clinical and histological findings of DD, including skin papules and oral mucosal lesions.

Keywords:

Autosomal dominant Darier disease keratosis follicularis

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Area of Science:

Dermatology
Genetics
Histopathology

Background:

Darier disease (DD), or keratosis follicularis, is a rare autosomal dominant genodermatosis.
It results from mutations in the ATP2A2 gene, encoding the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2.
DD exhibits high penetrance and variable expressivity.

Observation:

Clinical manifestations include hyperkeratotic papules, predominantly on seborrheic areas of the head, neck, and thorax.
Oral mucosa involvement is less common, typically affecting the palatal and alveolar mucosa.
Oral lesions are often asymptomatic and discovered during routine dental examinations.

Findings:

Histological examination reveals suprabasal clefts characterized by acantholytic and dyskeratotic cells.
The presented case features a 35-year-old female with classic clinical and histological indicators of Darier disease.
This case underscores the importance of recognizing characteristic histopathological features.

Implications:

Understanding the genetic basis (ATP2A2 mutations) is crucial for diagnosing Darier disease.
Recognizing oral manifestations aids in early detection and management.
This case contributes to the literature on Darier disease presentation and diagnosis.