Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes

Background: Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, harlequin ichthyosis (HI) stands out due...

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Autores:
Arias Pérez, Rubén Darío
Gallego Quintero, Salomón
Taborda Vanegas, Natalia Andrea
Restrepo Carvajal, Jorge Emiro
Zambrano Cruz, Renato
Tamayo Agudelo, ‪William Fernando
Bermúdez, Patricia
Duque Vélez, Constanza Elena
Arroyave, Ismael
Tejada Moreno, Johanna Alexandra
Villegas Lanau, Carlos Andrés
Mejía García, Alejandro
Zapata Builes, Wildeman
Hernández López, Juan Carlos
Cuartas Montoya, Gina Paula
Tipo de recurso:
Article of investigation
Fecha de publicación:
2021
Institución:
Tecnológico de Antioquia
Repositorio:
Repositorio Tdea
Idioma:
eng
OAI Identifier:
oai:dspace.tdea.edu.co:tdea/2725
Acceso en línea:
https://dspace.tdea.edu.co/handle/tdea/2725
Palabra clave:
skin diseases
Enfermedades de la piel
Dermatose
Ichthyosis
Ictiosis
Ictiose
Harlequin ichthyosis
Congenital ichthyosis
Case report
Rights
openAccess
License
https://creativecommons.org/licenses/by/4.0/