Vol. XXXV Issue 1
July 2023
ISSN online version: 1852-6233
Esta obra está bajo una Licencia Creative Commons Atribución-NoComercial-CompartirIgual 4.0 Internacional.
ARTICLE 1 – research
REVISIÓN DE LA DISPLASIA ECTODÉRMICA HIPOHIDRÓTICA: DIAGNÓSTICO, TRATAMIENTOS Y TERAPIAS GÉNICAS
HYPOHIDROTIC ECTODERMAL DYSPLASIA: A REVIEW ON DIAGNOSIS, TREATMENT, AND GENE THERAPIES
Herrador T.A., Migotti J.S.
Hypohidrotic ectodermal dysplasia (HED) is a genodermatosis caused by a monogenic defect that affects the protein ectodysplasin in tissues derived from the ectoderm. Depending on the transmission mechanism, we can distinguish three types of HED: autosomal recessive, autosomal dominant and linked to the X chromosome (this being the most frequent). Although the phenotypic expression varies according to which gene is affected, all forms of HED share three clinical characteristics: hypodontia, hypohidrosis and hypothricosis. The conventional treatments have the objective of improving the patient’s quality of life, and include dental interventions such as orthodontics and dental implants, dermatological routines for dry skin, and the use of artificial sweat. In recent years, scientific research has focused on genetic engineering to treat HED, developing new promising strategies such as gene therapy with recombinant EDA1, or ER004, developed by Schneider, H. and colleagues. In someclinical trials this strategy effectively reversed clinical manifestations of the disease. Throughout the review we will address HED’s symptoms, tools for the correct diagnosis, available treatments and considerations for the differential diagnosis.
Key words: ectodysplasin, ER004, genetic engineering, recombinant protein
Language: Spanish
Esta obra está bajo una Licencia Creative Commons Atribución-NoComercial-CompartirIgual 4.0 Internacional.
MEMOIR
Dr. Néstor Oscar Bianchi
1931-2023
Esta obra está bajo una Licencia Creative Commons Atribución-NoComercial-CompartirIgual 4.0 Internacional.