Acral Peeling Skin Syndrome: Two Unusual Cases and the Therapeutic Potential of Botulinum Toxin

Authors

  • Anna-Lotta Stjernbrandt Department of Public Health and Clinical Medicine, Dermatology and Venereology, Umeå University, Umeå, Sweden
  • Magnus Burstedt Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden
  • Emma Holmbom Department of Clinical Sciences, Obstetrics and Gynaecology, Umeå University, Umeå, Sweden
  • Alexander Shayesteh Department of Public Health and Clinical Medicine, Dermatology and Venereology, Umeå University, Umeå, Sweden https://orcid.org/0000-0003-0700-7195

DOI:

https://doi.org/10.2340/actadv.v104.24305

Keywords:

Acral Peeling Skin Syndrome, Genetics, Clinical findings, Botulinum toxin

Abstract

Abstract is missing (Short communication)

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Author Biographies

Magnus Burstedt, Department of Medical Biosciences, Medical and Clinical Genetics, Umeå University, Umeå, Sweden

Medical supervisor and senior consultant, Clinical Genetics, Umeå University

Emma Holmbom, Department of Clinical Sciences, Obstetrics and Gynaecology, Umeå University, Umeå, Sweden

Senior Counsultant at the department of Gynecology and Obstetrics, Umeå University

References

Cañueto J, Bueno E, Rodríguez-Diaz E, Vicente-Díaz MA, Álvarez-Cuesta CC, Gonzalvo-Rodríguez, et al. Acral peeling skin syndrome resulting from mutations in TGM5. J Eur Acad Dermatol Venereol 2016; 30: 477-480.

https://doi.org/10.1111/jdv.12863 DOI: https://doi.org/10.1111/jdv.12863

Muttardi K, Nitoiu D, Kelsell DP, O'Toole EA, Batta K. Acral peeling skin syndrome associated with a novel CSTA gene mutation. Clin Exp Dermatol 2016; 41: 394-398.

https://doi.org/10.1111/ced.12777 DOI: https://doi.org/10.1111/ced.12777

Acral peeling skin syndrome. Genetic and Rare Diseases Information Center. Updated February 2023 [accessed September 2023]. Available from: https://rarediseases.info.nih.gov/diseases/12863/acral-peeling-skin-syndrome.

Kiritsi D, Cosgarea I, Franzke CW, Schumann H, Oji V, Kohlhase J, et al. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. J Invest Dermatol 2010; 130: 1741-1746.

https://doi.org/10.1038/jid.2010.23 DOI: https://doi.org/10.1038/jid.2010.23

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. 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: 405-424.

https://doi.org/10.1038/gim.2015.30 DOI: https://doi.org/10.1038/gim.2015.30

Vahlquist A, Tasanen K. Epidermolysis bullosa care in Scandinavia. Dermatol Clin 2010; 28: 425-427.

https://doi.org/10.1016/j.det.2010.02.018 DOI: https://doi.org/10.1016/j.det.2010.02.018

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 2020; 581: 434-443. DOI: https://doi.org/10.1530/ey.17.14.3

https://doi.org/10.1038/s41586-020-2308-7 DOI: https://doi.org/10.1038/s41586-020-2308-7

Sprecher E. Epidermolysis bullosa simplex. Dermatol Clin 2010; 28: 23-32.

https://doi.org/10.1016/j.det.2009.10.003 DOI: https://doi.org/10.1016/j.det.2009.10.003

Nawrocki S, Cha J. Botulinum toxin: pharmacology and injectable administration for the treatment of primary hyperhidrosis. J Am Acad Dermatol 2020; 82: 969-979.

https://doi.org/10.1016/j.jaad.2019.11.042 DOI: https://doi.org/10.1016/j.jaad.2019.11.042

Swartling C, Karlqvist M, Hymnelius K, Weis J, Vahlquist A. Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita. Br J Dermatol 2010; 163: 1072-1076.

https://doi.org/10.1111/j.1365-2133.2010.09927.x DOI: https://doi.org/10.1111/j.1365-2133.2010.09927.x

Published

2024-04-09

How to Cite

Stjernbrandt, A.-L., Burstedt, M., Holmbom, E., & Shayesteh, A. (2024). Acral Peeling Skin Syndrome: Two Unusual Cases and the Therapeutic Potential of Botulinum Toxin. Acta Dermato-Venereologica, 104, adv24305. https://doi.org/10.2340/actadv.v104.24305

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