ArticleFrontiers in medicine2025
Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Not yet cited in PubMed.
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- Erratum issued
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17 authors.
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Abstract
Palmoplantar keratoderma (PPK) comprises a group of genodermatosis disorders phenotypically characterized by the isolated thickening of the skin of palms and soles. Syndromic forms can also include other phenotypic features in addition to those affecting the skin. Genetics plays a major role in the etiology and classification of PPK, particularly in syndromic cases, although the genetic mechanisms underlying some cases remain largely unknown. Here, we present a patient from a consanguineous family in which a homozygous variant was identified through whole exome sequencing in the
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