1.
Eur J Dermatol
; 34(3): 320-322, 2024 Jun 01.
Artículo
en Inglés
| MEDLINE
| ID: mdl-39015978
Asunto(s)
Adenocarcinoma Mucinoso , Neoplasias de la Mama , Neoplasias Cutáneas , Humanos , Femenino , Neoplasias de la Mama/patología , Neoplasias de la Mama/diagnóstico , Adenocarcinoma Mucinoso/patología , Adenocarcinoma Mucinoso/diagnóstico , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/diagnóstico , Persona de Mediana Edad
2.
Clin Exp Dermatol
; 47(7): 1424-1426, 2022 Jul.
Artículo
en Inglés
| MEDLINE
| ID: mdl-35574671
RESUMEN
A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13-year-old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level.