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Background Mucous membrane pemphigoid (MMP) is a rare subepidermal autoimmune blistering disorder. The clinical and demographic parameters of this disease in Indian patients have not yet been elucidated in detail. Objective We aimed to study the clinical and demographic characteristics, disease course, and treatment aspects of MMP patients. Methods The data for this study were obtained by reviewing the case record forms of patients registered in the Autoimmune Bullous Disease (AIBD) Clinic of the Department of Dermatology, Venereology & Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, a tertiary care centre in India. The diagnosis of MMP was established on the basis of clinical and immune-histopathological features which are consistent with standard diagnostic criteria for the disease. Results A total of 52 patients with MMP registered in the AIBD clinic were included. The mean age at disease onset was 50 years and the average age at presentation was 56 years. Females outnumbered males in the study with a ratio of 1.36:1. The oral and ocular mucosae were the most commonly affected sites (82.6% and 63.4% respectively). Visual difficulty was reported by half the patients (26 of 52 patients). IgG, C3, and IgA deposits were detected on direct immunofluorescence (DIF) in 29, 21, and 11 patients, respectively. Serologic analysis was performed in only 7 of the patients and of these, just 1 exhibited a positive result on multivariant ELISA and epidermal pattern of binding on salt split skin indirect immunofluorescence. Most patients were treated with prednisolone (44 of 52). Steroid-sparing adjuvants were used in combination including cyclophosphamide, azathioprine, methotrexate, dapsone, and colchicine. Rituximab was administered in 7 patients with severe or refractory disease. Limitations This is a retrospective analysis of data available from a clinic registry. In patients with negative direct immunofluorescence on biopsy, the diagnosis was based on clinico-pathologic consensus. Conclusion MMP is not as uncommon in India as the paucity of reports suggest. Visual complications are frequent in Indian MMP patients. A high index of suspicion is required for early diagnosis and appropriate treatment to prevent ocular complications. [ABSTRACT FROM AUTHOR]

A study published in the journal Clinical & Experimental Dermatology suggests that a heterozygous RAD50 gene variant may play a role in the development of systemic sclerosis (SSc), a rare autoimmune rheumatic disease. The study examined a family with SSc and identified the RAD50 gene variant in the index patient and her monozygotic twin sisters. RAD50 is involved in DNA repair and genomic stability, and alterations in this gene may lead to increased production of reactive oxygen species and fibrosis, which are central to the pathogenesis of SSc. The presence of the RAD50 variant may also be linked to an increased risk of developing breast cancer. Further research is needed to fully understand the mechanisms behind the RAD50 gene variant in SSc. [Extracted from the article]

This article discusses the familial aggregation of diffuse cutaneous systemic sclerosis (dcSSc), a rare autoimmune connective tissue disease. The study focuses on a family with dcSSc and identifies a variant in the C1r gene, which encodes a proteolytic subunit in the complement system. The presence of this gene variant, along with a susceptible HLA haplotype and specific autoantibodies, may contribute to the development and clinical course of dcSSc. The study highlights the importance of genetic factors in the etiology of SSc and suggests the need for further research to understand the mechanisms involved. [Extracted from the article]

Background: Psoriasis is associated with significant morbidity and impaired quality of life. Identification of the host genes that influence disease susceptibility and can potentially guide future, targeted therapy is the need of the hour. Aims: The aim of the study was to investigate the associations of macrophage migration inhibitory factor (MIF) gene polymorphisms, that is, a 5-8-CATT tetra nucleotide repeats at -794 (-794*CATT5-8) and a single-nucleotide polymorphism at -173 (-173*G/C) with the risk of chronic plaque psoriasis and to observe the correlation, if any, of disease determinants with genetic functional variants and circulating MIF levels. Methods: Five hundred and seventeen individuals (265 psoriasis patients and 252 controls) were genotyped for MIF gene polymorphisms. Data were analyzed with respect to disease susceptibility, serum MIF levels, disease severity, age at onset, disease duration and presence of comorbidities. Results: The presence of co-morbidities was more frequently noted in patients with late onset disease (P = 0.01). No statistically significant differences were observed either in genotype (P = 0.680) or allele frequency (P = 0.69) with respect to distribution of MIF-173*G/C polymorphism between patients and controls. The frequencies of genotypes -794*CATT 5/7 and 7/7 were significantly lower in patients (P = 0.027* and 0.038*, respectively). CATT*5/MIF-173*C haplotype occurred at a higher frequency in patients (odds ratio 3.03, 95% confidence intervals 1.09-8.47, P = 0.02). The mean serum MIF levels were significantly higher in patients as compared to controls (P < 0.001). The presence of either extended MIF -794*CATT repeats or C allele did not reveal any significant association with serum MIF levels or age at onset. Analysis of effect of various disease determinants revealed no significant association with genetic variants and serum MIF levels. Limitations: The lesional expression of MIF could not be studied. Conclusion: Our results showed that CATT*5/MIF-173*C haplotype is associated with increased susceptibility to psoriasis vulgaris. [ABSTRACT FROM AUTHOR]

Background: The international consensus on antinuclear antibody (ANA) patterns (ICAP) guidelines recommends that non-nuclear patterns should be reported as positive for ANA. Therefore, a prospective study was planned to investigate the frequency of cytoplasmic and mitotic ANA patterns in routine reporting in a high‑throughput lab in a tertiary referral center in Northern India. Materials and Methods: Whole blood samples received were centrifuged and serum was separated within 4 hours of collection. Sera were subjected to indirect immunofluorescence (IIF) assay on HEp‑2 cells for ANA determination in a dilution of 1:40, per standardized protocol in our laboratory. IIF staining patterns and intensity were evaluated and the results interpreted. Results: Over a 3‑month period, of the 3796 serum samples received for ANA testing, 81 (4.9%) samples were positive for cytoplasmic, 7 (0.4%) for mitotic, and 2 (0.1%) for DNA topoisomerase I (Topo I)‑like pattern. The most frequent cytoplasmic fluorescence pattern was dense fine speckled (2%) and the most frequent mitotic pattern was NuMA‑like (0.2%). The prevalence of total positive ANA in our study population was found out to be 43.6%. Conclusions: Implementation of ICAP guidelines into routine ANA reporting helped us in detecting important cytoplasmic antibodies such as antimitochondrial antibodies, anti‑ribosomal P protein antibodies, anti‑Jo‑1antibodies, anti‑Topo I antibodies and allowed us to introduce more specific and confirmatory tests for the same. The new format for ANA reporting also encouraged clinician‑laboratory crosstalk. [ABSTRACT FROM AUTHOR]

A choledochal cyst (CDC) is a rare congenital, single, or multiple cystic dilatations of the biliary tract encountered most commonly in infants and children. A sensitive and specific serological marker, if available, may add to its early recognition thereby avoiding the risk of complications frequently seen in these patients. We analyzed serum galectin-3-binding protein (Gal-3BP) levels in 21 children with CDC and 14 age-matched controls by the ELISA method. Serum Gal-3-BP levels were significantly raised in the patient group (36.6 ±25.2 ng/ml versus 7.0 ±4.3 ng/ml in controls; p <0.0001) and 95.2% of patients had Gal-3BP levels higher than the mean value in controls. Almost 67% of patients showed values ≥3 times of mean Gal-3BP level in controls (p <0.0001). Equal to 5 times or greater levels were seen in 43% of the patients (p = 0.0051). The study, therefore, suggests further evaluation of Gal-3BP as a potential biomarker for CDC and other biliary disorders. [ABSTRACT FROM AUTHOR]