Cutaneous lesions and mitochondrial hearing loss: A case report.

Autor: Moreno-Artero E; Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Imizcoz T; CIMA-LAB Diagnostics, University of Navarra, Pamplona, Spain., Prieto C; ENT Department, University Clinic of Navarra, Pamplona, Spain., Manrique R; ENT Department, University Clinic of Navarra, Pamplona, Spain., González-Cañete M; Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Manrique M; ENT Department, University Clinic of Navarra, Pamplona, Spain., Torrelo A; Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2023 May-Jun; Vol. 40 (3), pp. 534-536. Date of Electronic Publication: 2022 Dec 16.
DOI: 10.1111/pde.15193
Abstrakt: Pathogenic sequence changes in mitochondrial DNA (mtDNA) are one of the most common causes of genetic hearing loss. We report an infant with palmoplantar hyperkeratosis, extrapalmoplantar cutaneous features and mitochondrial sensorineural hearing loss caused by the previously reported pathogenic NC_012920:m.7445A > G sequence change in the mitochondrial gene COX1 (COX1, MT-CO1). Next generation sequencing- based technology was key for the diagnosis and management of this patient.
(© 2022 Wiley Periodicals LLC.)
Databáze: MEDLINE
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