Study of Human Leukocyte Antigen (HLA) in 13 cases of familial frontal fibrosing alopecia: CYP21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA‐A*33:01; B*14:02; C*08:02 as a genetic marker

Abstract

Background/Objectives: The aetiology of frontal fibrosing alopecia is unknown, and its genetic aspect remains uncharacterised. The aim of this report is to elucidate if major histocompatibility complex is associated with familial frontal fibrosing alopecia.

Frontal Fibrosing Alopecia: A Review

“…A study including 13 cases of familial FFA found that most of the patients of that cohort shared HLA-A*33:01; B*14:02; C*08:02, suggesting that this haplotype may predispose to familial FFA [ 84 ]. Moreover, it was found to be linked with the CYP21A2 gene p.V281L mutation (from congenital adrenal hyperplasia).…”

“…Moreover, five out of seven sporadic cases also shared the referred haplotypes (3/7 the former, 2/7 the latter). Another woman with sporadic FFA presented HLA-A*33:01:01; B*14:02:01; C*08:02:01, which was previously associated to FFA [ 84 ].…”

Genotyping of the rs1800440 Polymorphism in CYP1B1 Gene and the rs9258883 Polymorphism in HLA-B Gene in a Spanish Cohort of 223 Patients with Frontal Fibrosing Alopecia

“…One argument favouring this is the study by Ramos et al, in which 2 susceptible HLA class I haplotypes were identified ( HLA-C*17:01:01:02/B*42:01:01:01 and C*07:02:01:03/B*07:02:01:01 ) in a Brazilian large familiar cluster with FFA ( 14 ). Similarly, research in 13 cases of FFA in Spain uncovered a linkage between the F16A HLA class I haplotype and the CYP21A2 gene p.V281L mutation ( 4 ). Chan et al ( 18 ) on the other hand, found no HLA-DR1 association (HLA class II) in 2 siblings with FFA.…”

“…F rontal fibrosing alopecia (FFA) is a scarring and inflammatory permanent hair loss condition involving frontotemporal hairline and eyebrows (1)(2)(3). FFA primarily affects women, and it has also been linked to various autoimmune illnesses, such as chronic discoid lupus erythematosus, autoimmune thyroid disease, and pernicious anaemia (4,5). The aetiopathogenesis of FFA, however, is unknown (6,7).…”

HLA‐B alleles associated with frontal fibrosing alopecia in Brazil may share similar peptide presentation and T‐cell interaction profiles

“…1 The high intrafamilial occurrence (8%-11%) and its association with HLA-B variants (HLA-B*07:02, HLA-B*14:02, B*42:01) suggest genetic susceptibility. [2][3][4][5] This study aimed to explore two Brazilian families with FFA and sporadic, analysing HLA-A, HLA-B, HLA-C and HLA-G genetic variability and the CYP21A2 V281 mutation.…”