Atopic dermatitis is a chronic and inflammatory skin disease and the most severe forms could strongly impact the patient’s quality of life. Skin barrier dysfunction is considered the first step in the atopic march. RNF31 deficiency significantly changes the skin structure and increases its thickness. The keratinocytes show decreased expression of K10 and loricrin. In this way, RNF31 deficiency alters the proper functioning of the skin by altering the homeostasis of keratinocytes. We present the case of a 2-year-old boy diagnosed with severe atopic dermatitis, with impaired quality of life due to a genetic variant related to keratinocyte function that has not been previously reported in humans with atopic dermatitis.
Cite this paper
Alonso-Bello, C. D. , Chávez-Ocana, S. D. C. , Moncayo-Coello, C. V. and Rojo-Gutierrez, M. I. (2023). Atopic Dermatitis Related to RNF31 Genetic Variant. Open Access Library Journal, 10, e339. doi: http://dx.doi.org/10.4236/oalib.1110339.
Larenas-Linnemann, D., Rincón-Pérez, C., Luna-Pech, J.A., Macías-Weinmann, A., Vidaurri-de la Cruz, H., Navarrete-Rodríguez. E.M., et al. (2023) Guidelines on Atopic Dermatitis for Mexico (GUIDAMEX): Using the ADAPTE Methodology. Gaceta Médica de México, 158, 1-116. (In Spanish)
https://doi.org/10.24875/GMM.M22000690
Kim, J., Kim, B.E. and Leung, D.Y.M. (2019) Pathophysiology of Atopic Dermatitis: Clinical Implications. Allergy & Asthma Proceedings, 40, 84-92.
https://doi.org/10.2500/aap.2019.40.4202
Seneviratne, J. (2021) Pathogenesis of Atopic Dermatitis: Current Concepts. Journal of Skin and Sexually Transmitted Diseases, 3, 113-117.
https://doi.org/10.25259/JSSTD_8_2021
Wollenberg, A., Kinberger, M., Arents, B., Aszodi, N., Avila-Valle, G., Barbarot, S., et al. (2022) European Guideline (EuroGuiDerm) on Atopic Eczema: Part I—Systemic Therapy. Journal of the European Academy of Dermatology and Venereology, 36, 1409-1431. https://doi.org/10.1111/jdv.18345
Boisson, B., Laplantine, E., Dobbs, K., Cobat, A., Tarantino, N., Hazen, M., et al. (2015) Human HOIP and LUBAC Deficiency Underlies Autoinflammation, Immunodeficiency, Amylopectinosis, and Lymphangiectasia. Journal of Experimental Medicine, 212, 939-951. https://doi.org/10.1084/jem.20141130
Oda, H., Beck, D.B., Kuehn, H.S., Sampaio Moura, N., Hoffmann, P., Ibarra, M., et al. (2019) Second Case of HOIP Deficiency Expands Clinical Features and Defines Inflammatory Transcriptome Regulated by LUBAC. Frontiers in Immunology, 10, Article No. 479. https://doi.org/10.3389/fimmu.2019.00479
Niewiem, M. and Grzybowska-Chlebowczyk, U. (2022) Intestinal Barrier Permeability in Allergic Diseases. Nutrients, 14, Article No. 1893.
https://doi.org/10.3390/nu14091893