Correction: Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G

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Source: Frontiers Medicine

Original: https://www.frontiersin.org/articles/10.3389/fmed.2026.1779531...

Published: 2026-02-13T00:00:00Z

This is a correction of a case report of autosomal recessive palmoplantar keratokermia with additional bilateral hearing loss caused by a pathogenic frameshift deletion in the FAM83G gene. The patient is consanguineous and presents with palmoplantar keratokermia on both hands and feet along with bilateral hearing impairment, with no hair or dental abnormalities. Whole exome sequencing identified a homozygous variant in the FAM83G gene consisting of a single nucleotide deletion leading to a frameshift, an early stop codon, and a potentially truncated protein. FAM83G has recently been associated with palmoplantar keratochemica, with the phenotype requiring further refinement due to the small number of reported cases. To date, four cases with variants in FAM83G have been reported, all from consanguineous families. This patient adds new clinical features and molecular evidence for this new genodermatosis syndrome with autosomal recessive inheritance. The entity may be called FAM83G-associated palmoplantar keratokermia.[2][3]