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“ Darier病与霍普夫疣状肢端角化病的临床重叠”：一例报告

"Clinical Overlap of Darier's Disease and Acrokeratosis Verruciformis of Hopf": A Case Report.

作者信息

Mathur Mahesh, Paudel Sumit, Regmi Sandhya, Karki Sambidha, Maharjan Shilpa, Bhattarai Nabita

机构信息

Department of Dermatology College of Medical Sciences Bharatpur Nepal.

出版信息

Clin Case Rep. 2025 Sep 8;13(9):e70862. doi: 10.1002/ccr3.70862. eCollection 2025 Sep.

DOI:10.1002/ccr3.70862
PMID:40933297
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12417319/
Abstract

Darier's disease and Acrokeratosis Verruciformis of Hopf can exhibit overlapping clinical features due to mutations in the same ATP2A2 gene. Recognizing this genetic and phenotypic overlap is crucial for accurate diagnosis, genetic counseling, and treatment, especially in mixed presentations of these rare genodermatoses.

摘要

由于同一ATP2A2基因突变，达里埃病和霍普夫疣状肢端角化病可表现出重叠的临床特征。认识到这种遗传和表型重叠对于准确诊断、遗传咨询和治疗至关重要，尤其是在这些罕见遗传性皮肤病的混合表现中。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b560/12417319/50fd9f727bd8/CCR3-13-e70862-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b560/12417319/a9616fe44cf6/CCR3-13-e70862-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b560/12417319/50fd9f727bd8/CCR3-13-e70862-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b560/12417319/a9616fe44cf6/CCR3-13-e70862-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b560/12417319/50fd9f727bd8/CCR3-13-e70862-g003.jpg

相似文献

1
"Clinical Overlap of Darier's Disease and Acrokeratosis Verruciformis of Hopf": A Case Report.“ Darier病与霍普夫疣状肢端角化病的临床重叠”：一例报告
Clin Case Rep. 2025 Sep 8;13(9):e70862. doi: 10.1002/ccr3.70862. eCollection 2025 Sep.
2
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.霍普夫疣状肢端角化病由ATP2A2基因突变引起：证明它与达里埃病等位。
J Invest Dermatol. 2003 Feb;120(2):229-32. doi: 10.1046/j.1523-1747.2003.t01-1-12045.x.
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本文引用的文献

1
Darier disease: Current insights and challenges in pathogenesis and management.毛囊角化病：发病机制与治疗的当前见解及挑战
J Eur Acad Dermatol Venereol. 2025 May;39(5):942-951. doi: 10.1111/jdv.20448. Epub 2024 Nov 28.
2
An Atypical Case of Acrokeratosis Verruciformis of Hopf Responding to Combined Acitretin and Cryotherapy.一例对阿维A与冷冻疗法联合治疗有反应的霍普夫疣状肢端角化病非典型病例。
Cureus. 2024 May 9;16(5):e60000. doi: 10.7759/cureus.60000. eCollection 2024 May.
3
Acrokeratosis Verruciformis of Hopf in an Adult - A Rare Case Report with Review of Literature.
成人霍普夫疣状肢端角化病——1例罕见病例报告并文献复习
Indian J Dermatol. 2022 Nov-Dec;67(6):792-794. doi: 10.4103/ijd.ijd_649_22.
4
Brief Report: HPV-17 Infection in Darier Disease With Acrokeratosis Verrucosis of Hopf.简短报告：伴有霍普夫疣状肢端角化症的达里埃病中的人乳头瘤病毒17型感染
Am J Dermatopathol. 2017 May;39(5):370-373. doi: 10.1097/DAD.0000000000000693.
5
Acrokeratosis verruciformis of Hopf - Case report.霍普夫疣状肢端角化病——病例报告
An Bras Dermatol. 2016 Sep-Oct;91(5):639-641. doi: 10.1590/abd1806-4841.20164919.
6
Acrokeratosis verruciformis of Hopf exhibiting Darier disease-like cytological features.
Clin Exp Dermatol. 2016 Oct;41(7):761-3. doi: 10.1111/ced.12910.
7
Acrokeratosis verruciformis of Hopf showing P602L mutation in ATP2A2 and overlapping histopathological features with Darier disease.霍普夫疣状肢端角化病显示ATP2A2基因存在P602L突变且组织病理学特征与达里埃病重叠
Am J Dermatopathol. 2012 Aug;34(6):597-601. doi: 10.1097/DAD.0b013e31823f9194.
8
Coexistence of Darier's disease and acrokeratosis verruciformis of Hopf.
Yonsei Med J. 2004 Oct 31;45(5):956-9. doi: 10.3349/ymj.2004.45.5.956.
9
Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.霍普夫疣状肢端角化病由ATP2A2基因突变引起：证明它与达里埃病等位。
J Invest Dermatol. 2003 Feb;120(2):229-32. doi: 10.1046/j.1523-1747.2003.t01-1-12045.x.