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Darier Disease

      A 60-year-old woman presented with a generalized pruritic rash since adolescence. She reported her son had a similar rash. Physical examination revealed greasy brown and keratotic papules and plaques in a seborrheic distribution, which included her chest, back, forehead, scalp margins, and ears (Figures 1 and 2). Histopathology revealed acantholytic dyskeratosis. The clinicopathological features along with the patient’s family history were consistent with Darier disease. The patient’s skin disease markedly improved with acitretin.
      Figure thumbnail gr1
      Figure 1Greasy papules and plaques affecting the scalp margin, neck, and ear.
      Figure thumbnail gr2
      Figure 2Keratotic papules and plaques affecting the back.
      Darier disease, also known as keratosis follicularis, is an autosomal dominant disorder affecting the ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2) gene and typically manifests during adolescence. Clinically, the disease presents with greasy hyperkeratotic papules and plaques in a seborrheic distribution, along with palmoplantar pits and acral keratosis.
      • Takagi A.
      • Kamijo M.
      • Ikeda S.
      Darier disease.
      ,
      • Korman A.M.
      • Milani-Nejad N.
      Skin lesions may be pruritic, painful, and/or malodorous. Additionally, characteristic nail findings include alternating white and red longitudinal streaks (candy-cane nails) and V-shaped nicking of the free nail edge. Oral involvement can also be seen with cobblestoning of the oral mucosa, gingival hypertrophy, and obstructive sialdenitis.
      • Shwetha V.
      • Sujatha S.
      • Yashoda Devi B.K.
      • et al.
      Spectrum of features in Darier’s disease: a case report with emphasis on differential diagnosis.
      ,
      • Wong V.
      • Tan B.
      • Burgin S.
      The diagnosis can be confirmed through a skin biopsy revealing acantholytic dyskeratosis in the appropriate clinical setting, although in some instances, genetic testing may be required.
      Treatment goals include patient education on exacerbating factors such as ultraviolet light, heat, and friction. Additionally, patients are susceptible to superimposed viral and bacterial skin infections; thus, surveillance, prevention, and treatment of infection is paramount. Although there are no curative treatments of Darier disease, topical corticosteroids and systemic retinoids may be used to control inflammation and hyperkeratosis, respectively.
      • Korman A.M.
      • Milani-Nejad N.
      • Shwetha V.
      • Sujatha S.
      • Yashoda Devi B.K.
      • et al.
      Spectrum of features in Darier’s disease: a case report with emphasis on differential diagnosis.
      • Wong V.
      • Tan B.
      • Burgin S.
      Benefits from surgical interventions have also been reported.
      • Takagi A.
      • Kamijo M.
      • Ikeda S.
      Darier disease.
      ,
      • Wong V.
      • Tan B.
      • Burgin S.

      References

        • Takagi A.
        • Kamijo M.
        • Ikeda S.
        Darier disease.
        J Dermatol. 2016; 43: 275-279
        • Korman A.M.
        • Milani-Nejad N.
        Darier disease.
        ([published online ahead of print August 12, 2020]. JAMA Dermatol)
        • Shwetha V.
        • Sujatha S.
        • Yashoda Devi B.K.
        • et al.
        Spectrum of features in Darier’s disease: a case report with emphasis on differential diagnosis.
        J Oral Biol Craniofac Res. 2019; 9: 215-220
        • Wong V.
        • Tan B.
        • Burgin S.
        Goldsmith L.A. Darier Disease. VisualDx, Rochester, NY2016