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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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X-linked genodermatoses from diagnosis to tailored therapy.

M C Medori1, P Gisondi2, F Bellinato2

  • 1MAGI's LAB, Rovereto, Italy.

La Clinica Terapeutica
|November 23, 2023
PubMed
Summary

X-linked genodermatoses are rare genetic skin diseases in males, classified into keratinization, pigmentation, and inflammatory defects. Genetic diagnosis and emerging therapies are crucial for these debilitating conditions.

Keywords:
GenodermatosisX-linkedgene therapygenetic diagnosishyperkeratosistailored therapy

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Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Genodermatoses are rare, heterogeneous genetic skin diseases with potential multiorgan involvement.
  • These conditions significantly impact well-being and can be life-threatening.

Purpose of the Study:

  • To review X-linked genodermatoses, focusing on their classification and diagnostic approaches.
  • To provide an overview of current clinical trials for orphan drugs and gene therapies for genodermatoses.

Main Methods:

  • A targeted research approach was employed, systematically exploring relevant scientific literature.
  • The review focused on identifying exemplary articles for a comprehensive compilation of sources.

Main Results:

  • X-linked genodermatoses are particularly important in pediatric males and are categorized into keratinization, pigmentation, and inflammatory defects.
  • Examples include dyskeratosis congenita, hypohidrotic ectodermal dysplasia, and incontinentia pigmenti.
  • Genetic diagnosis is vital, with numerous clinical trials for orphan drugs and gene therapies being developed.

Conclusions:

  • The chapter progresses from clinical to molecular testing for genodermatoses.
  • It concludes with a review of clinical trials involving orphan drugs and gene therapy for these rare genetic diseases.