A Case of Darier’s Disease in a 32-year-old Filipino Female

Authors: Janella Cristin S. Mercado-Garcia, MD, Ma. Corazon Iniego, MD, Vilma O. Pelino, MD, FPDS, Elizabeth P. Prieto, MD, FPDS

Abstract

Introduction: Darier’s Disease is a rare autosomal dominant genetic disorder characterized by predominantly scaly or keratotic papules distributed on the seborrheic areas of the body, with nail splitting, palmar pits and a malodorous scent. It is a chronic disease with a prevalence of 1-4 out of 100,000 people. Abnormality in the gene ATP2A2 that codes for the Sarcoendoplasmic Reticulum Calcium ATP-ase pump is implicated in the disease.

Case Summary: This is a rare case of a 32-year-old Filipino female who presents with a 26-year history of pruritic, keratotic papules and plaques on the seborrheic areas of her body, such as the face, chest, back, including her upper and lower extremities. The patient had dystrophic nails, and a characteristic malodorous scent. Skin punch biopsy revealed Darier’s Disease. Patient was put on topical medications such as Urea 10% lotion and Triamcinolone cream. Fractional CO2 laser, an ablative treatment that has been used in some case studies as a novel treatment for Darier’s Disease was done on the patient for 2 sessions, resulting into a reported 70% improvement of lesions.

Conclusion: Darier’s Disease is a chronic condition with frequent exacerbations. Sun exposure, heat, and sweat can worsen the manifestation of the disease. While there is no cure for Darier’s Disease, skin appearance can be drastically improved. Treatment of choice includes oral acitretin or isotretinoin. Localized lesions can be improved with topical corticosteroids and topical retinoids. Novel treatments include laser ablation, such as the Fractional CO2 laser which has been on our patient.

 

Citation

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Keywords

darier’s disease, darier-white disease, keratosis follicularis, fractional CO2 laser

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