Darier's disease: A review of the clinical features and management pattern in Penang Hospital, Malaysia

ABSTRACT

Background: Darier’s disease (DD) is a rare autosomal dominant genodermatosis, characterized by abnormal keratinization and acantholysis. Although the clinical and genetic features of this inherited skin disorder have been well studied in the Caucasian population, very little is known about the clinical spectrum of the disorder in Asian populations. This retrospective study aimed to characterize the demographic and clinical features of multi-ethnic Malaysian patients with DD. Method: All new cases of DD seen in Department of Dermatology, Hospital Pulau Pinang over the 25-year period 1986-2010 were retrieved. Diagnosis was based on clinical features and was confirmed histopathologically in at least one of the family member. Details of the demographic and clinical data including treatment regimen were collected for analysis. Results: 15 affected patients from 6 unrelated families (60% female; mean age of onset 15.1; 60% Chinese, 40% Malays) were studied, of whom 14 (93.3%) were predominantly seborrhoeic involvement and only 1 (6.7%) had flexural predominant. Hand involvement was common (60%) which included 7 (46.7%) with nail changes, 6 (40.0%) with palmar pits and 4 (26.7%) patients had acrokeratosis verruciformis. Only 3 patients had oral mucosal involvement. No guttate leucoderma and hemorrhagic macules were noted in our cohort. Factors that exacerbate the disease in descending order of frequency were heat, sun exposure, infections and trauma. Neuropsychiatric abnormalities, including mental retardation, epilepsy and psychosis, have been observed in 4 (26.7%) patients. Nine (60%) patients were given systemic retinoid to control the disease. Conclusion: The clinical profiles of our patients were generally comparable to other Asian published data except rarity of co-occurrence of guttate leucoderma. Our findings add to the increasing bulk of Asian patient data valuable in the management of Darier’s disease.