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Dermatopathology pp 81–82Cite as

Darier Disease

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Part of the book series: Encyclopedia of Pathology ((EP))

Synonyms

Darier-White disease; Dyskeratosis follicularis; Keratosis follicularis

Definition

Darier disease is an autosomal dominant skin disorder characterized by warty, erosive papules in seborrheic areas (central trunk, flexures, scalp, and forehead), papules on the hard palate, palmoplantar pits, and nail dystrophy with longitudinal red and white lines. Segmental manifestations following the Blaschko lines have been described. Secondary infection by herpes virus, bacteria, or fungi is common. Sun, heat, and sweating exacerbate the disease. Onset usually occurs between the age of 6 and 20 years with complete penetrance in adults, although expressivity is variable (Burge 1992).

Mutations in ATP2A2 cause Darier disease and suggest a role for the SERCA2 pump in the Ca(2+)-signaling pathway that regulates cell-to-cell adhesion and differentiation of the epidermis (Sakuntabhai et al. 1999). Therapeutic options are retinoids, dermabrasion, and carbon dioxide laser vaporization.

Histology...

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References and Further Reading

  • Ackerman, A. B. (1997). Dyskeratosis. In A. B. Ackerman, N. Chongchitnant, J. Sanchez, & Y. Guo (Eds.), Histologic diagnosis of inflammatory skin diseases (p. p83). Baltimore: Williams & Wilkins.

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  • Berlin, A. L., Paller, A. S., & Chan, L. S. (2002). Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology. Journal of the American Academy of Dermatology, 47, 169–187.

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  • Burge, S. M. (1992). Hailey-Hailey disease: The clinical features, response to treatment and prognosis. British Journal of Dermatology, 126, 275–282.

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  • Burge, S. M., & Wikinson, J. D. (1992). Darier-White disease: A review of the clinical features in 163 patients. Journal of the American Academy of Dermatology, 27, 40–50.

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  • Carney, R. G., & Carney, R. G., Jr. (1970). Incontinentia pigmenti. Archives of Dermatology, 102, 157–162.

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  • Drachtman, R. A., & Alter, B. P. (1992). Dyskeratosis congenita: Clinical and genetic heterogeneity. Report of a new case and review of the literature. The American Journal of Pediatric Hematology/Oncology, 14, 297–304.

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  • Hu, Z., Bonifas, J. M., Beech, J., Bench, G., Shigihara, T., Ogawa, H., Ikeda, S., Mauro, T., & Epstein, E. H., Jr. (2000). Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nature Genetics, 24, 61–65.

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  • Kirwan, M., & Dokal, I. (2008). Dyskeratosis congenita: A genetic disorder of many faces. Clinical Genetics, 73, 103–112.

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  • Knight, S., Vulliamy, T., Copplestone, A., Gluckman, E., Mason, P., & Dokal, I. (1998). Dyskeratosis Congenita (DC) Registry: Identification of new features of DC. British Journal of Haematology, 103, 990–996.

    Article  CAS  PubMed  Google Scholar 

  • Metze, D., Hamm, H., Schorat, A., & Luger, T. (1996). Involvement of the adherens junction – actin filament system in acantholytic dyskeratosis of Hailey-Hailey disease. A histological, ultrastructural, and histochemical study of lesional and non-lesional skin. Journal of Cutaneous Pathology, 23, 211–222.

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  • Sakuntabhai, A., Ruiz-Perez, V., Carter, S., Jacobsen, N., Burge, S., Monk, S., Smith, M., Munro, C. S., O’Donovan, M., Craddock, N., Kucherlapati, R., Rees, J. L., Owen, M., Lathrop, G. M., Monaco, A. P., Strachan, T., & Hovnanian, A. (1999). Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nature Genetics, 21, 271–277.

    Article  CAS  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Dermatology, University of Muenster, Universitäts-Hautklinik Münster, Von-Esmarch-Straße 58, 48149, Muenster, Germany

    Dieter Metze

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  1. Dieter Metze
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Corresponding author

Correspondence to Dieter Metze .

Editor information

Editors and Affiliations

  1. Division of Pathological Anatomy, Department of Surgery and Translational Medicine, University of Florence, School of Human Health Sciences, Florence, Italy

    Daniela Massi

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Metze, D. (2016). Darier Disease. In: Massi, D. (eds) Dermatopathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-30006-1_2855

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  • DOI: https://doi.org/10.1007/978-3-319-30006-1_2855

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-30005-4

  • Online ISBN: 978-3-319-30006-1

  • eBook Packages: MedicineReference Module Medicine

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