Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.
Ruben D Arias-PérezSalomón Gallego-QuinteroNatalia Andrea TabordaJorge E RestrepoRenato Zambrano-CruzWilliam Tamayo-AgudeloPatricia BermúdezConstanza DuqueIsmael ArroyaveJohanna A Tejada-MorenoAndrés Villegas-LanauAlejandro Mejía-GarcíaWildeman Zapata-BuilesJuan C HernandezGina Cuartas-MontoyaPublished in: BMC medical genomics (2021)
Although in clinical practice, ichthyosis is a common entity, a severe type of ichthyosis is presented, highlighting the importance of appropriate genetic diagnosis, given the broad spectrum of genetic alterations with similar phenotypic and clinical characteristics. These pathologies must be known to guarantee initial support measures to prevent complications and offer multidisciplinary management to those patients.