CLINICAL CASE

The role of genetic factors in familial case of acne

Demina OM1, Rumyantsev AG1,2, Potekaev NN1
About authors

1 Pirogov Russian National Research Medical University, Moscow, Russia

2 Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia

Correspondence should be addressed: Olga М. Demina
Ostrovityanova, 1, Moscow, 117997, Russia; ur.liam@mo.animed

About paper

Author contribution: Demina OM, Rumyantsev AG, Potekaev NN — study concept and design, manuscript writing; Demina OM — sequencing data management, computational research; Rumyantsev AG, Potekaev NN — manuscript editing.

Compliance with ethical standards: the study was approved by Ethical Review Board at the Pirogov Russian National Research Medical University (protocol number 138 of 13 October 2014). The participants provided written informed consent for the study including data processing and use for scientific purposes.

Received: 2022-04-03 Accepted: 2022-05-04 Published online: 2022-05-20
|

Acne is one of the most common dermatoses. A prominent genetic component for this disease has been reported and the manifestation in first-line relatives is considered an important risk factor. Here we present a clinical case illustrating the relevance of particular genetic polymorphisms mapped to NCF1, CD3E, ORAI1, IGHM and TAZ in patients with severe forms and burdened family history of the disease. Genetic examination identified the same allelic variants in five candidate target genes (NCF1, CD3E, ORAI1, IGHM and TAZ) in two closely related patients (father and son) with severe acne. The identified genetic configuration may interfere with the oxidase activity and promote defects in mitochondrial function along with reduced T cell proliferation and imbalanced immunoglobulin production. The findings may provide an important reference point for further clinical investigation and treatment of severe torpid dermatoses.

Keywords: acne, genetic variant, oxidase system

КОММЕНТАРИИ (0)