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Cutaneous lesions and mitochondrial hearing loss: A case report.
Moreno-Artero, Ester; Imizcoz, Teresa; Prieto, Carlos; Manrique, Raquel; González-Cañete, Marta; Manrique, Manuel; Torrelo, Antonio.
Afiliação
  • 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.
Pediatr Dermatol ; 40(3): 534-536, 2023.
Article em En | MEDLINE | ID: mdl-36524552
ABSTRACT
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_012920m.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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva / Perda Auditiva Neurossensorial Limite: Humans / Infant Idioma: En Revista: Pediatr Dermatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Surdez / Perda Auditiva / Perda Auditiva Neurossensorial Limite: Humans / Infant Idioma: En Revista: Pediatr Dermatol Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Espanha