Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata

Hanna Englander; Briana Paiewonsky; Leslie Castelo-Soccio

doi:10.1159/000530432

Alopecia Areata: A Review of the Genetic Variants and Immunodeficiency Disorders Associated with Alopecia Areata

Skin Appendage Disord. 2023 Oct;9(5):325-332. doi: 10.1159/000530432. Epub 2023 Jul 4.

Authors

Hanna Englander¹, Briana Paiewonsky², Leslie Castelo-Soccio¹

Affiliations

¹ National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA.
² Charles E Schmidt College of Medicine at Florida Atlantic University, Boca Raton, FL, USA.

Abstract

Alopecia areata (AA) is an autoimmune form of non-scarring hair loss that occurs on a spectrum from patchy loss of hair on the scalp, to complete hair loss. Histology features can vary, but increased abundance of telogen hair and miniaturized hair follicles are classic hallmarks [Clin Cosmet Investig Dermatol. 2015;8:397-403]. Additionally, lymphocytic infiltration of the hair bulb is a commonly observed histology feature of AA which underscores how the disease is an autoimmune-mediated one that results from immune-mediated attack of the hair follicle. In a healthy individual, the hair follicle is one of the body's immune-privileged sites, but the breakdown of this immune privilege is thought to be an important driver in AA disease development. Diagnosis of AA is usually based on phenotypic manifestations in conjunction with biopsies which can help conclude whether the hair loss is autoimmune based. However, varied manifestation of disease both clinically and histologically makes diagnosis criteria more ambiguous and early identification of disease harder to achieve. A better understanding of genes that are associated with increased AA risk may help elucidate potential gene targets for future therapeutics.

Keywords: Alopecia; General dermatology; Genodermatoses; Hair loss; Immune mediated disease; Immunodeficiency; Inborn errors of immunity.

Publication types

Review

Grants and funding

L.C.S. and H.E. salary and time were supported by the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health. B.P. received a mentorship grant from the American Hair Research Society and this work is part of the mentorship collaboration between B.P. and L.C.S.