Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma.

ABSTRACT: Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole‑exome sequencing, with Sanger sequencing as the validation method. The MEGA7 program was used to analyze the conservation of amino acid residues affected by the detected missense variants. The enrolled patients exhibited ichthyosis‑like but distinct clinical manifestations. Genetic analysis identified diagnostic vari

SUBMITTER: Zhang J 

PROVIDER: S-EPMC11094583 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature