Immunogenetics of cutaneous lupus erythematosus

Abstract

Purpose of the review Systemic lupus erythematosus (SLE) is the prototypic autoimmune condition, often affecting multiple organ systems, including the skin. Cutaneous lupus (CLE) is distinct from SLE with symptoms isolated to the skin. Histopathologically the hallmark of lupus-specific manifestations of SLE and CLE is an interface dermatitis. The etiology of SLE and CLE is likely multifactorial and may include shared genetic factors. In this review we will discuss the genetic findings related to the cutaneous manifestations of SLE and isolated CLE, with a particular focus on the lupus-specific CLE subtypes. Recent Findings Several MHC and non-MHC genetic polymorphisms have been identified which may contribute to the cutaneous manifestations of SLE and to CLE. Most of these genetic variants are associated with mechanisms attributed to the pathogenesis of SLE including pathways involved in interferon and vitamin D regulation and UV light exposure. Although there is overlap between the genetic factors associated with SLE and CLE, there appear to be unique genetic factors specific for CLE. Summary Improved understanding of the genetics of CLE may lead to the creation of targeted therapies, improving outcomes for patients with this challenging dermatologic condition.

DNA Damage and Deficiencies in the Mechanisms of Its Repair: Implications in the Pathogenesis of Systemic Lupus Erythematosus

“…Lupic dermatitis is frequently noted at the earliest stages of the disease and affects 75% of SLE patients along the course of the disease [ 2 ]. Skin involvement is important in the detection of SLE patients.…”

Current Insights in Cutaneous Lupus Erythematosus Immunopathogenesis

“…Like many complex diseases, CLE is thought to arise from a combination of genetics and environment. Several immune genes have been implicated in subtypes of CLE, including cytokine genes, complement genes, and innate immune genes [reviewed in ( 50 )]. Polymorphisms in the transcription factor IRF5, the signaling molecule TYK2, and the immune regulator CTLA4 were identified in a Finnish cohort of CLE patients ( 51 ).…”

A secondary discoid lupus erythematosus induced by scald of edible oil: An illustration of Koebner phenomenon

“…Lupus erythematosus (LE) is considered as a prototypic autoimmune disease characterized by two clinical variants, the cutaneous and the systemic form. 3 DLE is evaluated to be in charge of 50%-85% of cases of chronic cutaneous lupus erythematosus, which can further progress into SLE in approximately 15%-30% of patients. 4 It occurs most commonly in the 30 and 40 years of age.…”