1. Engin B, Kutlubay Z, Çelik U, Serdaroğlu S, Tüzün Y. Hailey-Hailey disease: a fold
(intertriginous) dermatosis. Clin Dermatol. 2015;33:452–5.
2. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, et al. Mutations in
ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet.
2000;24:61–65.
3. Vakilzadeh F, Kolde G. Relapsing linear acantholytic dermatosis. Br J Dermatol.
1985;112:349–55.
4. König A, Hörster S, Vakilzadeh F, Happle R. Type 2 segmental manifestation of
Hailey-Hailey disease: poor therapeutic response to dermabrasion is due to
severe involvement of adnexal structures. Eur J Dermatol. 2000;10:265–8.
5. Poblete-Gutiérrez P, Wiederholt T, König A, Jugert FK, Marquardt Y, Rübben A,
et al. Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing
molecular confirmation of a novel genetic concept. J Clin Invest. 2004;114:
1467–74.
6. Duschet P, Happle R, Schwarz T, Gschnait F. Relapsing linear acantholytic dermatosis. J Am Acad Dermatol. 1995;33:920–2.
7. Hwang LY, Lee JB, Richard G, Uitto JJ, Hsu S. Type 1 segmental manifestation of
Hailey-Hailey disease. J Am Acad Dermatol. 2003;49:712–4.
European Journal of Human Genetics (2023) 31:716 – 720
8. Arora S, Arora G, Ranjan P. Relapsing linear acantholytic dermatosis in a four-yearold boy. Indian J Dermatol Venereol Leprol. 2005;71:351–3.
9. Nanda A, Khawaja F, Al-Sabah H, Happle R. Type 2 segmental Hailey-Hailey
disease with systematized bilateral arrangement. Int J Dermatol. 2014;53:
476–8.
10. García-Morales I, Requena-Caballero L, Happle R, Torrelo A. Segmental HaileyHailey disease of the vulva. Pediatr Dermatol. 2018;35:e398–9.
11. Katzman JA, Chavan R, Holliday AC, Coman G, Grider D, Kolodney MS. Mosaic
variant in ATP2C1 presenting as relapsing linear acantholytic dermatosis. Br J
Dermatol. 2020;183:155–7.
12. Higaki-Mori H, Teye K, Ishii N, Yoshida Y, Yamamoto O. Elderly-onset type 1
mosaic form of Hailey-Hailey disease with a postzygotic variant in ATP2C1. J
Dermatol. 2021;48:e182–3.
13. 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;34:2511–7.
14. Kinsler VA, Boccara O, Fraitag S, Torrelo A, Vabres P, Diociaiuti A. Mosaic
abnormalities of the skin: review and guidelines from the European Reference
Network for rare skin diseases. Br J Dermatol. 2020;182:552–63.
15. Aoki S, Hirata Y, Kawai T, Nakabayashi K, Hata K, Suzuki H, et al. Frequent FGFR3
and ras gene mutations in skin tags or acrochordons. J Invest Dermatol.
2021;141:2756–60.e8.
16. 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.
17. Landrum MJ, Lee JM, Benson M, Brown GR, Chao C, Chitipiralla S, et al. ClinVar:
Improving access to variant interpretations and supporting evidence. Nucleic
Acids Res. 2018;46:D1062–7.
18. Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. Author
correction: the mutational constraint spectrum quantified from variation in
141,456 humans. Nature. 2021;590:E53.
19. Bateman A, Martin MJ, Orchard S, Magrane M, Agivetova R, Ahmad S, et al.
UniProt: the universal protein knowledgebase in 2021. Nucleic Acids Res.
2021;49:D480–9.
20. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and
guidelines for the interpretation of sequence variants: a joint consensus
recommendation of the American College of Medical Genetics and Genomics
and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
Y. Asahina et al.
720
AUTHOR CONTRIBUTIONS
AK conceived and designed the study. YA, SA and NK performed the experimental
work. YA, UT and AK interpreted data and wrote the manuscript. UT, CT, DH, DT and
AK examined the patients and characterized the clinical features of the disease. MA
and AK supervised the study. All the authors edited or commented on the
manuscript.
Correspondence and requests for materials should be addressed to Akiharu Kubo.
Reprints and permission information is available at http://www.nature.com/
reprints
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims
in published maps and institutional affiliations.
FUNDING
Open access funding provided by Kobe University.
This study was approved by the Ethics Committee of Keio University School of
Medicine and performed after obtaining written informed consent. Written informed
consent for publication of their clinical details and clinical images was obtained from
the parent of each patient.
Open Access This article is licensed under a Creative Commons
Attribution 4.0 International License, which permits use, sharing,
adaptation, distribution and reproduction in any medium or format, as long as you give
appropriate credit to the original author(s) and the source, provide a link to the Creative
Commons license, and indicate if changes were made. The images or other third party
material in this article are included in the article’s Creative Commons license, unless
indicated otherwise in a credit line to the material. If material is not included in the
article’s Creative Commons license and your intended use is not permitted by statutory
regulation or exceeds the permitted use, you will need to obtain permission directly
from the copyright holder. To view a copy of this license, visit http://
creativecommons.org/licenses/by/4.0/.
ADDITIONAL INFORMATION
© The Author(s) 2023
COMPETING INTERESTS
The authors declare no competing interests.
ETHICAL APPROVAL
Supplementary information The online version contains supplementary material
available at https://doi.org/10.1038/s41431-023-01316-w.
European Journal of Human Genetics (2023) 31:716 – 720
...
論文の公開元へ
