Capcetabine-Induced Discoid Cutaneous Lupus

Background:Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with a significant genetic predisposition. Recent studies have identified STAT4 (signal transducers and transcription activators 4) as a susceptibility gene for SLE.Objectives:To investigate the hypothesis of the association of STAT4 rs7574865 G/T polymorphism with the predisposition to SLE in children and its relationship with some of SLE manifestations.Methods:The case-control pilot study included 143 children (39 with SLE and 103 healthy unrelated volunteers as a control group). Diagnosis of SLE was based on 2012 SLICC criteria. STAT4 rs7574865 G/T polymorphism was investigated using allele-specific real-time polymerase chain reaction (RT-PCR).Results:The group of pts with SLE consisted of 29 girls and 10 boys, with an average age of 11.8±3.7 years (from 3 to 17 years) and an average disease duration of 4.1±2.4 years. 79.5% pts had acute cutaneous lupus at the onset, 46.1% - nonscarring alopecia, 71.8% - arthritis, 23.1% - oral and nasal ulcers, 23.1% - serositis, 43.6% - renal involvement, 35.9% –neuropsychiatric disorders. Leucopenia/lymphopenia was found in 71.8% of pts, thrombocytopenia – in 23,1%. ANA were detected in 100% pts, anti-dsDNA – in 79.5%, anti-Sm – in 31.6%, antiphospholipid antibodies - in 7,3%, hypocomplementemia – in 61.5%, positive direct Coombs test – in 35.9 %. Macrophage activation syndrome at the onset was documented in 15.4 % of pts. The distribution of rs7574865 genotypes in the control group showed no significant deviations from the Hardy-Weinberg equilibrium. The distribution of genotype frequencies among pts had statistically significant differences compared to the control (χ2=12.95, p=0.0015): GG-30.8% and 63.1% (p=0.001), GT-56.4% and 33.0% (p=0.018), TT-12.8% and 3.9% (p=0.114), GT+TT - 69.2% and 36.9% (p=0.0005). The frequency of the mutant STAT 4 allele T (polymorphism), was significantly higher in the SLE group than in the control group (41% and 20.4%, respectively; p=0.0007). We identified an association of the T allele with some clinical, laboratory, and immunological disorders in SLE: arthritis (OR 3.9, p=0.0002), acute cutaneous lupus (OR 2.47, p=0.003), nonscarring alopecia (OR 3.12, p=0.002), renal involvement (OR 2.42, p=0.022), leucopenia (OR 2.72, p=0.003), thrombocytopenia (OR 4.88, p=0.002), anti-dsDNA (OR 2.82, p=0.0006), hypocomplementemia (OR 2.34, p=0.012), positive direct Coombs test (OR 3.38, p=0.002).Conclusion:Our pilot study confirmed that the STAT4 rs7574865 G/T polymorphism was associated with the risk of SLE in children and some of SLE manifestations.Disclosure of Interests:None declared

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A Serology-Based Approach Combined With Clinical Examination of 125 Ro/SSA-Positive Patients to Define Incidence and Prevalence of Subacute Cutaneous Lupus Erythematosus

Yearbook of Dermatology and Dermatologic Surgery ◽

10.1016/s0093-3619(08)70842-6 ◽

2008 ◽

Vol 2008 ◽

pp. 213-214

Author(s):

B.H. Thiers

Keyword(s):

Clinical Examination ◽

Lupus Erythematosus ◽

Cutaneous Lupus Erythematosus ◽

Subacute Cutaneous Lupus Erythematosus ◽

Cutaneous Lupus

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18 Cutaneous lupus

10.1136/lupus-2021-la.18 ◽

2021 ◽

Author(s):

Bernardo Pons-Estel ◽

Annegret Kuhn ◽

Andrea Doria

Keyword(s):

Cutaneous Lupus

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421 Defining flares in cutaneous lupus erythematosus using the cutaneous lupus erythematosus disease area and severity index (CLASI)

Journal of Investigative Dermatology ◽

10.1016/j.jid.2021.02.444 ◽

2021 ◽

Vol 141 (5) ◽

pp. S73

Author(s):

E. Keyes ◽

R. Borucki ◽

R. Feng ◽

M. Grinnell ◽

T. Vazquez ◽

...

Keyword(s):

Lupus Erythematosus ◽

Cutaneous Lupus Erythematosus ◽

Severity Index ◽

Disease Area ◽

Cutaneous Lupus

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