Identifying first-degree family members in patients with frontal fibrosing alopecia and lichen planopilaris in a specialty alopecia clinic

Abstract

Lichen planopilaris (LPP) and frontal fibrosing alopecia (FFA) are two of the most common cicatricial alopecias. Mast cell and chronic lymphocyte attack lead to inflammation around the hair follicle bulge, primarily affecting the scalp vertex in LPP and frontal hairline in FFA. Approximately 50% of patients are asymptomatic, while 50% report scalp symptoms such as burning and pruritus. 1 A genome-wide association study in various European cohorts observed a significant association with FFA at 4 genomic loci: 2p22.2, 6p21.1, 8q24.22, and 15q2.1. The HLA-B*07:02 allele has been identified within the 6p21.1 locus and the missense variant CYP1B1 at 2p22.1. 2 Two genetic studies of LPP found higher frequencies of human leukocyte antigen (HLA) DRB1 and DQB1 genes in LPP-affected patients. 3 This evidence, along with familial FFA and LPP cases in the literature supports the existence of a genetic component to both disorders. The scarcity of pediatric cases and varying age of onset in LPP and FFA may suggest that their development relies on epigenetic influence. In either case, information on the inheritance of FFA and LPP is sparse. Our study aims to investigate trends in family history, demographics, and ethnic distribution in patient populations with LPP and/or FFA.We retrospectively identified 422 adult patients diagnosed with LPP and FFA in specialty alopecia clinics in Burlington, Massachusetts and Irvine, California. Demographics, disease onset, symptoms, and family history of LPP or FFA in a first-degree relative were assessed by patient intake forms completed at initial visits or chart review. The clinical characteristics of patients are outlined in Table 1.Of all patients with LPP and/or FFA, 20 (4.7%) reported having a first-degree family member with the same hair loss condition. First-degree family members were affected in 11 out of 20 (55.0%) patients with LPP, 4 out of 20 (20.0%) with FFA, and 5 out of 20 (25.0%) with both. Two patients (10.0%) with LPP had >1 affected first-degree relative. There were no significant differences in age of onset, gender, race, diagnosis, and characterization of scalp symptoms in patients with a family history in a first-degree relative versus those without. The average age of onset of disease in patients with affected first-degree relatives (49.3 ± 15.2 years) was lower than in patients without affected first-degree relatives (54.9 ± 15.1 years, P = 0.2).

Análise da expressão de HLA-G, TLR 2, 3, 4 e 5 e Cav-1 no folículo piloso do couro cabeludo de pacientes com líquen plano pilar

“…Em um estudo com pacientes judeus não Ashkenazi, população que parece ter aumento da prevalência de LPP, encontrou-se maior frequência dos alelos HLA DRB1*11 e DQB1*03 nos doentes 82 . Casos familiares de LPP também foram descritos 83 .…”