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Full-Text Articles in Skin and Connective Tissue Diseases
Darier-White Disease: A Rare Genetic Disorder, Cara Lynn Marie N. Chia, Ma. Teresita G. Gabriel, Leilani R. Senador, Ciara Mae Dela Cruz
Darier-White Disease: A Rare Genetic Disorder, Cara Lynn Marie N. Chia, Ma. Teresita G. Gabriel, Leilani R. Senador, Ciara Mae Dela Cruz
Journal of General - Procedural Dermatology & Venereology Indonesia
Background: The clinical manifestation of Darier-White disease, an autosomal dominant genodermatosis, are greasy hyperkeratotic papules in seborrheic regions with nail abnormalities and mucous membrane changes due to a defective sarcoendoplasmic calcium pump. The clinical appearance and unpleasant odor in some sites of the lesions may cause psychosocial disturbances and pose a major morbidity.
Case Illustration: We report a case of a 20-year old female with clinical manifestations of multiple erythematous to hyperpigmented hyperkeratotic papules, multiple flesh-colored keratotic papules with red and white longitudinal bands on dystrophic fingernails, as well as plantar pits. Skin punch biopsy was performed to …