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

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...

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Principais autores:	Mónica Mora-Gómez, Marta Feito, Natalia Gallego-Zazo, Rocío Maseda-Pedrero, Tristán G. Sobral-Costas, Lucía Miranda-Alcaraz, Valeria Vásquez-Amell, Manuel Rodríguez-Canó, Alejandro Parra, Mario Cazalla, Pedro Arias, Cristina Silván, Juan A. Jiménez-Estrada, Víctor L. Ruiz-Pérez, Julián Nevado, Pablo Lapunzina, Jair Tenorio-Castano
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2025-11-01
coleção:	Frontiers in Medicine
Assuntos:	palmoplantar keratoderma FAM83G genodermatosis skin disorder bilateral hearing loss genomic medicine
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fmed.2025.1687811/full
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