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
Case Reports
. 2023 Aug;50(8):e240-e242.
doi: 10.1111/1346-8138.16770. Epub 2023 Mar 8.

Case of type 1 segmental Darier's disease with a novel mosaic mutation in the ATP2A2 gene

Keisuke Shimizu  1 , Hideki Fujita  1 , Daisuke Fujisawa  1 , Koremasa Hayama  1 , Satomi Aoki  2 , Akiharu Kubo  3 , Tadashi Terui  1
Affiliations
Case Reports

Case of type 1 segmental Darier's disease with a novel mosaic mutation in the ATP2A2 gene

Keisuke Shimizu et al. J Dermatol. 2023 Aug.
No abstract available

Keywords: ATP2A2 gene; hereditary keratosis; keratinocyte; mosaic mutation; segmental Darier's disease.

PubMed Disclaimer

References

REFERENCES

    1. Sakiyama T, Kubo A, Sasaki T, Yamada T, Yabe N, Matsumoto K, et al. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency. J Dermatol. 2015;42:511-4.
    1. Bachar-Wikström E, Wikström JD. Darier disease-a multi-organ condition? Acta Derm Venereol. 2021;101:adv00430.
    1. Takagi A, Kamijo M, Ikeda S. Darier disease. J Dermatol. 2016;43:275-9.
    1. Sanderson EA, Killoran CE, Pedvis-Leftick A, Wilkel CS. Localized Darier's disease in a Blaschkoid distribution: two cases of phenotypic mosaicism and a review of mosaic Darier's disease. J Dermatol. 2007;34:761-4.
    1. Agematsu A, Kamata M, Uchida H, Nagata M, Fukaya S, Hayashi K, et al. A case of type 1 segmental Darier disease showing widespread Blaschkoid skin lesions with p.P160L mutation in ATP2A2. J Eur Acad Dermatol Venereol. 2020;34:e633-5.

Substances