Life-long Skin Eruptions along Blaschko’s Lines in a 27-year-old Woman: A Quiz

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DOI:

https://doi.org/10.2340/actadv.v101.193

Keywords:

focal dermal hypoplasia, genetic counselling, PORCN, postzygotic mosasicism, X-chromosome inactivation

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References

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https://doi.org/10.1038/ng2057 DOI: https://doi.org/10.1038/ng2057

Barrott JJ, Cash GM, Smith AP, Barrow JR, Murtaugh LC. Deletion of mouse Porcn blocks Wnt ligand secretion and reveals an ectodermal etiology of human focal dermal hypoplasia/Goltz syndrome. Proc Natl Acad Sci U S A 2011; 108: 12752-12757.

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Goltz RW. Focal dermal hypoplasia syndrome. An update. Arch Dermatol 1992; 128: 1108-1111.

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Heinz L, Bourrat E, Vabres P, Thevenon J, Hotz A, Hörer S, et al. Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia. Br J Dermatol 2019; 180: 657-661.

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https://doi.org/10.1016/j.jid.2017.04.036 DOI: https://doi.org/10.1016/j.jid.2017.04.036

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https://doi.org/10.1111/bjd.17924 DOI: https://doi.org/10.1111/bjd.17924

Published

2021-12-07

How to Cite

Hamada, T., Teye, K., Katayama, E., Kawamura, M., Koga, H., Ishii, N., & Nakama, T. (2021). Life-long Skin Eruptions along Blaschko’s Lines in a 27-year-old Woman: A Quiz. Acta Dermato-Venereologica, 101(12), adv00610. https://doi.org/10.2340/actadv.v101.193