Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2014:2014:831398.
doi: 10.1155/2014/831398. Epub 2014 Sep 1.

Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature

Tamer Celik  1 , Umit Celik  2 , Cigdem Donmezer  2 , Mustafa Komur  1 , Orkun Tolunay  2 , Pelin Demirtürk  3
Affiliations

Cooccurrence of Darier's Disease and Epilepsy: A Pediatric Case Report and Review of the Literature

Tamer Celik et al. Case Rep Pediatr. 2014.

Abstract

Darier's disease is a skin disorder characterized by multiple eruptions of hyperkeratosis or crusted papules at seborrheic areas with histologic acantholysis and dyskeratosis. It is caused by mutations in a single gene, being ATP2A2 and that is expressed in the skin and brain. The cooccurrence of various neurologic and psychiatric diseases with Darier's disease has been reported frequently in literature. They include mood disorders, epilepsy, encephalopathy, and schizophrenia. In this study, we report a pediatric case with the cooccurrence of Darier's disease and epilepsy. We also revised current English literature on this topic.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Hyperkeratotic dark papules on the neck.
Figure 2
Figure 2
Skin biopsy showing hyperkeratosis, dyskeratosis, papillomatosis, suprabasal acantholysis, and dermal chronic inflammatory infiltrate (H&E ×100).
See this image and copyright information in PMC

References

    1. Sakuntabhai A, Burge S, Monk S, Hovnanian A. Spectrum of novel ATP2A2 mutations in patients with Darier's disease. Human Molecular Genetics. 1999;8(9):1611–1619. - PubMed
    1. Munro CS. The phenotype of Darier's disease: penetrance and expressivity in adults and children. British Journal of Dermatology. 1992;127(2):126–130. - PubMed
    1. Wilkinson JD, Marsden RA, Dawber RPR. Review of Darier's disease in the Oxford region. British Journal of Dermatology. 1977;97(15):15–16.
    1. Burge SM, Wilkinson JD. Darier-White disease: a review of the clinical features in 163 patients. Journal of the American Academy of Dermatology. 1992;27(1):40–50. - PubMed
    1. Jacobsen NJ, Lyons I, Hoogendoorn B, et al. ATP2A2 mutations in Darier's disease and their relationship to neuropsychiatric phenotypes. Human Molecular Genetics. 1999;8(9):1631–1636. - PubMed

LinkOut - more resources