Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB

Authors

  • Jeanne Ramspacher Dermatology Department, Reference Centre for Rare Skin Diseases, Larrey Hospital, 24 Chemin de Pouvourville, FR-31400 Toulouse, France
  • Virginie Carmignac French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin), Dermatology Department, Dijon University Hospital, Dijon, France
  • Pierre Vabres French National Reference Centre for Rare Diseases of the Skin and Mucous Membranes of Genetic Origin), Dermatology Department, Dijon University Hospital, Dijon, France
  • Juliette Mazereeuw-Hautier Dermatology Department, Reference Centre for Rare Skin Diseases, Larrey Hospital, 24 Chemin de Pouvourville, FR-31400 Toulouse, France

DOI:

https://doi.org/10.2340/actadv.v102.1141

Keywords:

Becker's Nevus Syndrome, Breast Hypoplasia, ACTB gene, Cafe au lait spots

Abstract

Abstract is missing (Short communication)

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References

Tymen R, Forestier JF, Boutet B, Colomb B. Naevus tardif de Becker. A propos d'une série de 100 observations. Ann Dermatol Venerol 1981; 108: 41-46.

Steiner D, Silva FA, Pessanha AC, Bialeski N, Feola C, Buzzoni CA. Do you know this syndrome? Becker nevus syndrome. An Bras Dermatol 2011; 86: 165-166.

https://doi.org/10.1590/S0365-05962011000100032 DOI: https://doi.org/10.1590/S0365-05962011000100032

Danarti R, Konig A, Salhi A, Bittar M, Happle R. Becker nevus syndrome revisited. J Am Acad Dermatol 2004; 51: 965-969.

https://doi.org/10.1016/j.jaad.2004.06.036 DOI: https://doi.org/10.1016/j.jaad.2004.06.036

Happle R, Koopman RJ. Becker nevus syndrome. Am J Med Genet 1997; 68: 357-361.

https://doi.org/10.1002/(SICI)1096-8628(19970131)68:3<357::AID-AJMG20>3.0.CO;2-R DOI: https://doi.org/10.1002/(SICI)1096-8628(19970131)68:3<357::AID-AJMG20>3.0.CO;2-R

Bunnell TM, Burbach BJ, Shimizu Y, Ervasti JM. Beta-actin specifically controls cell growth, migration, and the G-actin pool. Mol Biol Cell 2011; 22: 4047-4058.

https://doi.org/10.1091/mbc.e11-06-0582 DOI: https://doi.org/10.1091/mbc.e11-06-0582

Cai ED, Sun BK, Chiang A, Rogers A, Bernet L, Cheng B et al. Postzygotic mutations in beta-actin are associated with Becker's nevus and Becker's nevus syndrome. J Invest Dermatol 2017; 137: 1795-1798.

https://doi.org/10.1016/j.jid.2017.03.017 DOI: https://doi.org/10.1016/j.jid.2017.03.017

Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, et al. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet 2015; 23: 292-301.

https://doi.org/10.1038/ejhg.2014.95 DOI: https://doi.org/10.1038/ejhg.2014.95

Rivière JB, Van Bon BWM, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genet 2012; 44: 440-444.

https://doi.org/10.1038/ng.1091 DOI: https://doi.org/10.1038/ng.1091

Happle R. Becker's nevus and lethal beta-actin mutations. J Invest Dermatol 2017; 137: 1619-1621.

https://doi.org/10.1016/j.jid.2017.04.003 DOI: https://doi.org/10.1016/j.jid.2017.04.003

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Published

2022-10-31

How to Cite

Ramspacher, J., Carmignac, V., Vabres, P., & Mazereeuw-Hautier, J. (2022). Becker’s Naevus Syndrome with Breast Aplasia Due to Postzygotic Mutation of ACTB. Acta Dermato-Venereologica, 102, adv00806. https://doi.org/10.2340/actadv.v102.1141

Issue

Vol. 102 (2022)

Section

Short Communication

Categories

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Copyright (c) 2022 Jeanne Ramspacher, Virginie Carmignac, Pierre Vabres, Juliette Mazereeuw-Hautier

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