Classic Darier’s Disease in Family Presentation: 2 Case Reports

Abstract

The Darier disease is a rare genodermatosis, of dominate autosome heritage with variable penetration. That’s why, cold present cases of variable phenotypes, also in patients with high degree of kinship. It was related two cases of Darier disease in a family (mother and daughter) with different phenotypic patterns. Case 1: female, 17 years old, student, relate the hyperkeratotic papules appearance of brownish color initially in anterior trunk that evolute to neck and abdomen there is 5 years. Without lesions on face or scalp. Case 2: 48 years old, female, farmer, until the 19 years with appearance of brownish papules and plaques, hyperkeratotic initially in face that with the years pass evolute to scalp, dorsum and inferior members. The phenotype of the disease could variate on generations and also inside of one same generation. In those cases, is perceptible the phenotype variety: in case 1, there is more commitment of trunk and neck, without commitment facial, scalp and member; the case 2 (mother) presents high commitment facial, scalp and inferior members.