X-linked genodermatoses from diagnosis to tailored therapy.

Autor:	Medori MC; MAGI's LAB, Rovereto, Italy., Gisondi P; Section of Dermatology and Venereology, Department of Medicine, University of Verona, Verona, Italy., Bellinato F; Section of Dermatology and Venereology, Department of Medicine, University of Verona, Verona, Italy., Bonetti G; MAGI's LAB, Rovereto, Italy.; Department of Pharmaceutical Sciences, University of Perugia, Perugia, Italy., Micheletti C; MAGI's LAB, Rovereto, Italy., Donato K; MAGI Euregio, Bolzano, Italy.; MAGISNAT, Peachtree Corners, USA., Dhuli K; MAGI's LAB, Rovereto, Italy., Ergoren MC; Department of Medical Genetics, Faculty of Medicine, Near East University, Nicosia, Cyprus., Cristofoli F; MAGI Euregio, Bolzano, Italy., Cecchin S; MAGI's LAB, Rovereto, Italy., Marceddu G; MAGI Euregio, Bolzano, Italy., Bertelli M; MAGI's LAB, Rovereto, Italy.; MAGI Euregio, Bolzano, Italy.; MAGISNAT, Peachtree Corners, USA.
Jazyk:	angličtina
Zdroj:	La Clinica terapeutica [Clin Ter] 2023 Nov-Dec; Vol. 174 (Suppl 2(6)), pp. 236-242.
DOI:	10.7417/CT.2023.2493
Abstrakt:	Background: Genodermatoses are rare heterogeneous genetic skin diseases with multiorgan involvement. They severely impair an individual's well-being and can also lead to early death. Methods: During the progress of this review, we have implemented a targeted research approach, diligently choosing the most relevant and exemplary articles within the subject matter. Our method entailed a systematic exploration of the scientific literature to ensure a compre-hensive and accurate compilation of the available sources. Results: Among genodermatoses, X-linked ones are of particular importance and should always be considered when pediatric males are affected. Regardless of other syndromic forms without prevalence of skin symptoms, X-linked genodermatoses can be classified in three main groups: keratinization defects, pigmentation defects, and inflammatory skin diseases. Typical examples are dyskeratosis congenita, keratosis follicularis spinulosa decalvans, hypohidrotic ectodermal dysplasia, chondrodysplasia punctata, hypohidrotic ectodermal dysplasia, incontinentia pigmenti, chronic granulomatous disease, CHILD syndrome and ichthyosis. In this field, genetic diagnosis of the specific disease is important, also considering that numerous clinical trials of orphan drugs and genetic therapies are being proposed for these rare genetic diseases. Conclusions: Thus, this chapter starts from clinical to molecular testing and ends with a review of all clinical trials on orphan drugs and gene therapy for genodermatoses.
Databáze:	MEDLINE
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