Work

Exome Profiling Suggests Combined Effect of Myeloperoxidase, Toll-Like Receptors, and Metallopeptidase in Hidradenitis Suppurativa

Year: 2024

Type: article

Abstract: BACKGROUND: Hidradenitis suppurativa, also called acne inversa, is a chronic skin inflammatory condition involving hair follicles, sebaceous glands, and apocrine glands. Symptoms can be variable in intensity, ranging from mild to severe. The exact causes of hidradenitis suppurativa are not fully understood, but the etiology is presumed to be multifactorial, encompassing genetics and environmental factors. METHODS: Two families presented with hidradenitis suppurativa with an autosomal dominant pattern. We performed whole-exome sequencing in two unrelated patients from the two families. RESULTS: genes, some of which have already been previously reported as possible candidates for hidradenitis suppurativa. CONCLUSION: It is very likely that variants in a single gene only rarely cause the condition and that most cases, especially familial hidradenitis suppurativa cases, may more probably take the form of polygenic disorders.

Source: Biomedicines

DOI: 10.3390/biomedicines12112498

Authors: Alessia Azzarà, Ilaria Cassano, Carla Lintas, Fiorella Gurrieri

Institutions: Università Campus Bio-Medico, Campus Bio Medico University Hospital

Language: English

Topic: Hidradenitis Suppurativa and Treatments

Subfield: Dermatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,955