AI Article Synopsis

  • Genodermatoses are rare genetic skin disorders that can severely affect an individual's health and may result in early mortality due to their multiorgan involvement.* -
  • A systematic review of the literature focused on X-linked genodermatoses in pediatric males highlighted key conditions grouped by keratinization, pigmentation, and inflammatory issues, providing examples like dyskeratosis congenita and ichthyosis.* -
  • The review emphasizes the significance of genetic diagnosis and outlines the current landscape of clinical trials involving orphan drugs and gene therapy for these disorders, linking clinical assessments to molecular testing.*

Article Abstract

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.

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Source
http://dx.doi.org/10.7417/CT.2023.2493DOI Listing

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