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

BMC medical genomics - 26 May 2021

Arias-Pérez Ruben D, Gallego-Quintero Salomón, Taborda Natalia A, Restrepo Jorge E, Zambrano-Cruz Renato, Tamayo-Agudelo William, Bermúdez Patricia, Duque Constanza, Arroyave Ismael, Tejada-Moreno Johanna A, Villegas-Lanau Andrés, Mejía-García Alejandro, Zapata Wildeman, Hernandez Juan C, Cuartas-Montoya Gina

Abstract excerpt

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 to its severity. HI is caused by mutations in the ABCA12 gene, which encodes essential proteins in epidermal lipid...

Topics

Humans
Male
ATP-Binding Cassette Transporters
Young Adult
Colombia
Mutation
Ichthyosis, Lamellar
Ichthyosis
Adult

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34039366
DOI: 10.1186/s12920-021-00987-y
PMCID: PMC8157432

Genes

ABCA12
HRNR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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