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Genodermatoses

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Atlas of Dermatology, Dermatopathology and Venereology

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Abstract

Genodermatoses comprise a clinically-heterogeneous group of mostly devastating disorders affecting the skin. The inherited monogenic skin disorders include blistering disorders, inflammatory disorders, and disorders of differentiation or development. The discovery of pathogenic mutations in inherited skin diseases represents one of the major landmarks of late twentieth century molecular genetics. Mutation data can provide accurate diagnosis, improve genetic counseling, help define disease mechanisms, establish disease models, and provide a basis for translational research and testing of novel therapeutics. To date, treatment options have in general been limited to symptomatic relief. However, the recent technical evolution in genome editing has ushered in a new era in the development of causal therapies for rare monogenetic diseases such as genodermatoses. In this chapter, the main genodermatoses of significance in dermatology have been addressed.

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Authors and Affiliations

  1. Faculty of Medicine, Al Manar 2 University, Tunis, Tunisia

    Wissem Hafsi, Nourchène Toukabri & Mourad Mokni

  2. Department of Dermatology, La Rabta Hospital, Tunis, Tunisia

    Wissem Hafsi, Nourchène Toukabri & Mourad Mokni

  3. Medical Department of Interior Forces Security hospital, La Marsa, Tunisia

    Asmahane Souissi

  4. Research Laboratory Public health and infection LR18SP01, La Rabta hospital, Tunis, Tunisia

    Asmahane Souissi

  5. Laboratory of Biomedical Genomics and Onco-genetics (LR11IPT05), Pasteur Institute, Tunis, Tunisia

    Nadia Laaroussi & Sonia Abdelhak

  6. Molecular and Genetic Biology, Higher Institute of Biotechnology of Sidi-Thabet, Tunis, Tunisia

    Cherine Charfeddine

  7. Pathology Department, la Rabta Hospital, Tunis, Tunisia

    Ines Chelly

  8. Research Laboratory Public health and infection LR18SP01, La Rabta Hospital, Tunis, Tunisia

    Ines Chelly

  9. Faculty of Medecine, Al Manar University, Tunis, Tunisia

    Samir Boubaker

  10. Laboratory of Biomedical Genomics and Onco-genetics (LR11IPT05), Pathology Department, Pasteur Institute, Tunis, Tunisia

    Samir Boubaker

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  1. Wissem Hafsi
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  9. Mourad Mokni
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Correspondence to Mourad Mokni .

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Editors and Affiliations

  1. Department of Pathology, Univ of Rochester School of Med, Rochester, NY, USA

    Bruce Smoller

  2. Khorramshahr, Iran

    Nooshin Bagherani

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Hafsi, W. et al. (2021). Genodermatoses. In: Smoller, B., Bagherani, N. (eds) Atlas of Dermatology, Dermatopathology and Venereology . Springer, Cham. https://doi.org/10.1007/978-3-319-45134-3_20-1

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  • DOI: https://doi.org/10.1007/978-3-319-45134-3_20-1

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