Evidence map›Paper›PMID 39654686›Full record

ArticleClinical, cosmetic and investigational dermatology2024

A Novel Nonsense Mutation of the ATP2C1 Gene in an 18-Year-Old-Female with Papular Acantholytic Dyskeratosis of the Anogenital Area.

Shuqi Huang, Moath Abbas Abdalla Alhadidi, Nanfei Feng, Chuan Wan

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical, cosmetic and investigational dermatology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Shuqi Huang *Department of Dermatology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People's Republic of China.ORCID 0009-0008-7557-4822
Moath Abbas Abdalla Alhadidi *Department of Dermatology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People's Republic of China.
Nanfei FengDepartment of Dermatology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People's Republic of China.
Chuan WanDepartment of Dermatology, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People's Republic of China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Papular acantholytic dyskeratosis (PAD), often found to occur in the vulvar or anogenital area, is an exceedingly rare skin condition that usually presents in adulthood and features multiple smooth skin-colored or grayish-white papules with or without pruritus. Although the pathogenesis of PAD is unknown, PAD may be associated with mutations in ATP2C1 and ATP2A2 genes. Here, we report on an 18-year-old female patient with multiple gray-white flat papules in the anogenital area. Skin biopsy revealed hyperkeratosis of the epidermis, acantholysis, formation of fissures or lacunae, and disappearance of desmosomes. Whole exon sequencing (WES) of the patient indicated mutations in the ATP2C1 gene.

Indexed as

ATP2C1Papular acantholytic dyskeratosisWhole exon sequencing

Identifiers

PMID39654686
PMCPMC11625634

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