Association of interleukin 1 receptor antagonist intron 2 variable number of tandem repeats polymorphism with vitiligo susceptibility in Gujarat population

Background: Vitiligo is a multifactorial, polygenic, autoimmune skin disorder caused by selective destruction of melanocytes. Interleukin 1 receptor antagonist intron 2 polymorphism was found to be associated with various autoimmune disorders. Aims: We aimed to investigate the association of interleukin 1 receptor antagonist intron 2 variable number of tandem repeats polymorphism (rs2234663) with vitiligo to assess interleukin 1 receptor antagonist transcript levels and to perform possible genotype–phenotype correlation. Methods: Three hundred and seven vitiligo patients and 316 controls were enrolled in the study, genotyping of interleukin 1 receptor antagonist rs2234663 was performed by polymerase chain reaction, and relative gene expression of interleukin 1 receptor antagonist was carried out in peripheral blood mononuclear cells from patients (n = 36) and controls (n = 36) by real-time-PCR. Results: A significant difference was observed in the frequency of interleukin 1 receptor antagonist *A (1/2) genotype among patients with active and stable vitiligo (P = 0.0172). Interleukin 1 receptor antagonist*A (2/2) genotype and allele frequencies were significantly different between SV patients and controls (P = 0.0246 and P = 0.0046, respectively). Significant difference was also observed for interleukin 1 receptor antagonist*A2 (allele) in active and stable vitiligo patients (P = 0.0060). However, other comparisons did not show any significant difference in genotype and allele frequencies. Moreover, interleukin 1 receptor antagonist*A (3/2) genotype was observed only in patients whereas interleukin 1 receptor antagonist*A (5/2) was observed only in controls. Gene expression analysis showed no significant difference in interleukin 1 receptor antagonist transcript levels in patients compared to controls (P = 0.5962). Interestingly, genotype–phenotype correlation analysis revealed that individuals with IL1RN*A (2/2) exhibited higher interleukin 1 receptor antagonist expression compared to other major genotypes interleukin 1 receptor antagonist*A (1/2) (P = 0.01) and interleukin 1 receptor antagonist*A (1/1) (P = 0.03). Limitations: More case-control studies on interleukin 1 receptor antagonist rs2234663 polymorphism and gene expression from different ethnic populations are required to explore the impact of interleukin 1 receptor antagonist in vitiligo susceptibility. Conclusion: Interleukin 1 receptor antagonist*A2 might be a risk factor for progressive vitiligo.

Methotrexate: Remission, Relapse and Safety In Psoriasis Patients.

Abstracts: Background: Methotrexate, in low dose, has been widely used therapy in psoriasis patients. It has a good safety profile if used with proper monitoring. It helps to achieve quick remission and delays relapse. This study was done to evaluate safety and efficacy of methotrexate in terms of adverse drug reaction as well as relapse and remission. This was an observational prospective study performed in dermatology department of a tertiary care government hospital. Methodology: : Total 43 patients with psoriasis were given methotrexate and were evaluated for remission, relapse and adverse drug reactions. Statistical analysis used: MedCalc stastical software was used to evaluate the data. Results: Out of 43 patients, 42 patients achieved remission within 2-24 weeks. (Median - 4 weeks) 28 patients out of 33 showed relapse within the span of 2-24 weeks; while five patients did not show the signs of relapse till six months after stoppage of MTX. Minor adverse reactions were seen in 21% of patients amongst which, only two cases with hepatitis needed withdrawal of methotrexate. Conclusion : Methotrexate is still a near to gold standard therapy for psoriasis. It induces quick remission and delays relapse significantly. Methotrexate, if given with proper monitoring, will have significantly low risk of adverse effects.

Immune reconstitution inflammatory syndrome.

BACKGROUND: Immune reconstitution inflammatory syndrome (IRIS) is a paradoxical deterioration in clinical status in a patient on antiretroviral treatment (ART) despite satisfactory control of viral replication and improvement of CD4 count. AIM: To study development of IRIS as a part of ART. METHODS: Hundred patients on antiretroviral treatment were studied prospectively in the Department of Skin and VD over a period of 2 years. Patients were asked to come if they developed any symptoms or on a monthly basis. They were screened clinically and investigated suitably for evidence of opportunistic infections. RESULTS: Out of 100 patients, 10 patients did not come for follow-up. Twenty (22.2%) out of the 90 patients developed IRIS. Herpes zoster (HZ), herpes simplex virus (HSV), and tuberculosis (TB) were the cases of IRIS seen in the present study. CONCLUSIONS: IRIS in terms of HSV/TB is known to accelerate HIV disease progression. Hence early detection and prompt treatment, along with continuation of highly active ART, are of utmost importance.

Dermatomyositis in a human immunodeficiency virus infected person.

It is interesting to study an autoimmune condition like dermatomyositis (DM) in the setting of immunosuppression due to human immunodeficiency virus (HIV) infection. An HIV seropositive female aged 30 years, presented with a nonitchy rash over the face, breathlessness, diarrhoea and difficulty in raising her hands above her head. A heliotrope rash around the eyes, Gottron's papules and proximal muscle weakness were found to be present. C reactive protein, erythrocyte sedimentation rate and lactate dehydrogenase levels were raised, but creatinine phosphokinase and anti-nuclear antibody profile were normal. Her HIV serostatus was confirmed by Western blotting, keeping in mind the potential for false positive HIV serology in an autoimmune disorder. Her CD4 count was 379 cells/mm3. An X-ray of the chest showed bilateral pleural effusion with raised pleural fluid adenosine deaminase levels. Clinical findings and laboratory investigations favored the diagnosis of DM and HIV infection with tuberculous effusion in an HIV seropositive patient. She was treated with antibiotics, four-drug anti-tubercular treatment, systemic steroids and later, antiretroviral treatment. Chances of a false positive antibody test for HIV should be considered in a patient having an autoimmune disease such as DM.

Adverse effects of antiretroviral treatment.

BACKGROUND: The introduction of highly active antiretroviral therapy (HAART) has led to significant reduction in acquired immune deficiency syndrome (AIDS)-related morbidity and mortality. Adverse drug reactions (ADRs) to antiretroviral treatment (ART) are however, major obstacles in its success. AIMS: We sought to study the adverse effects of ART in a resource-restricted setting in India. METHODS: Hundred patients on ART were studied prospectively over a period of two years. All patients were asked to visit the clinic if they developed any symptoms or on a monthly basis. They were screened clinically and investigated suitably for any ADRs. RESULT: Out of the 100 patients, ten patients did not come for follow-up; only 90 cases were available for evaluation. ADRs were observed in 64 cases (71.1%) - the maximal frequency of ADRs was seen with zidovudine (AZT) (50%) followed by stavudine (d4T) (47.9%), efavirenz (EFV) (45.4%) and finally, Nevirapine (NVP) (18.4%). Most common ADRs were cutaneous (44.4%) followed by hematological (32.2%), neurological (31.1%), metabolic (22.2%) and gastrointestinal (20%). Most common cutaneous ADRs observed were nail hyperpigmentation (14.4%) and rash (13.3%). Immune reconstitution inflammatory syndrome (IRIS) was observed as a paradoxical reaction to ART in 20 (22.2%) cases. CONCLUSION: To optimize adherence and thus, efficacy of ART, clinicians must focus on preventing adverse effects whenever possible, and distinguish those that are self-limited from those that are potentially serious.

EEC syndrome sans clefting: variable clinical presentations in a family.

Ectrodactyly, ectodermal dysplasia and cleft palate/lip syndrome (EEC) is a rare autosomal dominant syndrome with varied presentation and is actually a multiple congenital anomaly syndrome leading to intra- and interfamilial differences in severity because of its variable expression and reduced penetrance. The cardinal features include ectrodactyly, sparse, wiry, hypopigmented hair, peg-shaped teeth with defective enamel and cleft palate/lip. A family comprising father, daughter and son presented to us with split hand-split foot deformity (ectrodactyly), epiphora, hair changes and deafness with variable involvement in each family member.