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. 2023 Jul 13:103:adv12337.
doi: 10.2340/actadv.v103.12337.

Mosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease

Affiliations

Mosaicism for ATP2A2 Mutation and Mutant Allelic Fractions Detected by Droplet Digital PCR in Simple Segmental Darier Disease

Hiroshi Koga et al. Acta Derm Venereol. .
No abstract available

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Conflict of interest statement

The authors have no conflicts of interest to declare.

Figures

Fig. 1
Fig. 1
Clinicopathological assessment of the current patient with simple segmental Darier disease. (A) Keratotic papules and plaques on the left side of her back following Blaschko’s lines. (B) Light microscopy reveals irregular acanthosis of the epidermis, suprabasal acantholytic dyskeratosis with corps ronds (arrows), and focal hyperkeratosis with grains (arrowheads; haematoxylin-eosin; original magnification ×200).

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References

    1. Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet 1999; 21: 271–277. - PubMed
    1. Happle R, Torrelo A. Superimposed mosaicism in tuberous sclerosis complex: a key to understanding all of the manifold manifestations? J Eur Acad Dermatol Venereol 2020; 34: 2511–2517. - PubMed
    1. Wada T, Shirakata Y, Takahashi H, Murakami S, Iizuka H, Suzuki H, et al. A Japanese case of segmental Darier’s disease caused by mosaicism for the ATP2A2 mutation. Br J Dermatol 2003; 149: 185–188. - PubMed
    1. Harboe TL, Willems P, Jespersgaard C, Mølgaard Poulsen ML, Sørensen FB, Bisgaard ML. Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues. Dermatology 2011; 222: 292–296. - PubMed
    1. Knopp EA, Saraceni C, Moss J, McNiff JM, Choate KA. Somatic ATP2A2 mutation in a case of papular acantholytic dyskeratosis: mosaic Darier disease. J Cutan Pathol 2015; 42: 853–857. - PMC - PubMed

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