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

• Autors principals: Ruben D. Arias-Pérez (Autor), Salomón Gallego-Quintero (Autor), Natalia A. Taborda (Autor), Jorge E. Restrepo (Autor), Renato Zambrano-Cruz (Autor), William Tamayo-Agudelo (Autor), Patricia Bermúdez (Autor), Constanza Duque (Autor), Ismael Arroyave (Autor), Johanna A. Tejada-Moreno (Autor), Andrés Villegas-Lanau (Autor), Alejandro Mejía-García (Autor), Wildeman Zapata (Autor), Juan C. Hernandez (Autor), Gina Cuartas-Montoya (Autor)
• Format: Llibre
• Publicat: BMC, 2021-05-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract 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...