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Genetic Diseases

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Dermatological Atlas of Indigenous People

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Abstract

In the closed community such as the Xingu Indigenous Park, consanguinity is frequent and the onset of genetic diseases is expected. However, we did not observe high prevalence of genodermatoses in this population. In this chapter, three diseases observed in this indigenous reserve are presented: epidermolysis bullosa, Peutz-Jeghers syndrome and xeroderma pigmentosum.

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Suggested Reading

Epidemolysis Bullosa

  1. Montaudié H, Chiaverini C, Sbidian E, Charlesworth A, Lacour JP. Inherited epidemolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. Orphanet J Rare Dis. 2016;11:117.

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Peutz-Jeghers Syndrome

  1. McGarrity TJ, Amos CI, Baker MJ. Peutz-Jeghers syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, LJH B, Bird TD, Fong CT, Mefford HC, RJH S, Stephens K, editors. GeneReviews [internet]. Seattle: University of Washington; 1993–2016. [updated 2016 Jul 14].

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  2. Meserve EE, Nucci MR. Peutz-Jeghers syndrome: pathobiology, pathologic manifestations, and suggestions for recommending genetic testing in pathology reports. Surg Pathol Clin. 2016;9(2):243–68.

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  3. Rabinovitz HS, Barnhill R. Benign melanocytic neoplasms. In: Bolognia JL, Jorizzo JL, Schaffer JV, editors. Dermatology. 3rd ed. Amsterdam: Elsevier Sauders; 2012. p. 1851–83.

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Xeroderma Pigmentosum

  1. Black JO. Xeroderma Pigmentosum. Head Neck Pathol. 2016;10:139–44.

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  2. Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis. 6:70; 2011. [Avaliable in: http://www.ojrd.com/content/6/1/70].

  3. Viana Fde O, Cavaleiro LH, Carneiro CM, Bittencourt Mde J, Barros RS, Fonseca DM. Do you know this syndrome? Xeroderma pigmentosum (XP). An Bras Dermatol. 2011;86:1029.

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Authors and Affiliations

  1. Universidade Federal de São Paulo, São Paulo, Brazil

    Marcos Cesar Florian, Jane Tomimori, Sofia Beatriz Machado de Mendonça & Douglas Antonio Rodrigues

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  1. Marcos Cesar Florian
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  2. Jane Tomimori
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  3. Sofia Beatriz Machado de Mendonça
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  4. Douglas Antonio Rodrigues
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Florian, M.C., Tomimori, J., de Mendonça, S.B.M., Rodrigues, D.A. (2017). Genetic Diseases. In: Dermatological Atlas of Indigenous People. Springer, Cham. https://doi.org/10.1007/978-3-319-59446-0_7

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  • DOI: https://doi.org/10.1007/978-3-319-59446-0_7

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-59444-6

  • Online ISBN: 978-3-319-59446-0

  • eBook Packages: MedicineMedicine (R0)

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