Dermatológia pre prax 2/2025
Darier disease
Introduction: Darier disease is a rare inherited skin disorder associated with abnormal intracellular calcium regulation. Clinically, it presents with hyperkeratotic papules and various cutaneous and nail manifestations. Case report: We present a case of a 43-year-old male with chronic skin lesions, initially diagnosed as psoriasis. Following histopathologic and genetic examination, the diagnosis of Darier disease was confirmed. Conclusion: Due to the clinical variability and potential for misdiagnosis, comprehensive diagnostics including histology are essential. Early recognition and individualized treatment can significantly improve patient outcomes.
Keywords: Darier disease, keratosis follicularis, dyskeratosis, retinoids, differential diagnosis, ATP2A2, genodermatoses