Approach to genodermatoses from precision medicine: case report
DOI:
https://doi.org/10.29176/2590843X.1919Keywords:
Ichthyosis, Hyperkeratosis, Epidermolytic, Keratin-1, Keratin-10, Genetics, Precision medicineAbstract
Epidermolytic ichthyosis (EI), an autosomal dominant genetic disease that is part of the keratinopathic ichthyosis (KPI) (1). It affects 1 in every 200,000 to 300,000 newborns, as a result of a variant in the KRT1 or KRT10 gene that encodes keratin 1 and 10 respectively; proteins present in the keratinocytes of the suprabasal layers of the epidermis, where they form the bundles of tonofibrils and together are early markers of cellular differentiation (2).
At birth, patients present erythroderma and blisters, as a consequence of the fragility of the cytoskeleton of the epidermal cells and the collapse of the keratin filaments. Skin changes evolve over time to hyperkeratosis (3). Two cases of patients with IE are presented, in which the genetic study played an important role in the specific diagnosis, in order to establish a targeted treatment, establish prognosis and risk of heritability, bringing us closer to precision medicine.
Author Biographies
Iván Darío Zúñiga-Espitia, Universidad Libre, Seccional Cali. Grupo de Investigación en Dermatología, Cali, Colombia
Residente de Dermatología, Universidad Libre, Seccional Cali. Grupo de Investigación en Dermatología, Cali, Colombia
Lina Johanna Moreno Giraldo, Universidad Libre, Seccional Cali, Cali, Colombia.
Especialista en Pediatría. Magíster y doctora en Genética Médica. Docente, Posgrados, Universidad Libre, Seccional Cali, Cali, Colombia
José María Satizábal Soto, Independiente
Magíster y doctor en Genética Médica
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Copyright (c) 2024 Iván Darío Zúñiga-Espitia, Lina Johanna Moreno Giraldo, José María Satizábal Soto
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