The role of IFIH1 gene rs1990760 and rs2111485 single-nucleotide polymorphisms in generalized vitiligo predisposition

Background/aim: Interferon-induced helicase (IFIH1) is a gene locus that has been recently defined as a candidate for susceptibility to generalized vitiligo (GV). The objectives of this study were to assess the association of IFIH1 gene, rs2111485, and rs1990760 single-nucleotide polymorphisms (SNP) with susceptibility to GV and the autoimmune diseases accompanying GV. Materials and methods: We prospectively studied GV patients and frequency-matched healthy controls by age and sex. The genotypes of the participants were determined for rs1990760 and rs2111485 SNPs of IFIH1. Dominant, recessive, and additive models were evaluated for each SNP adjusted for age and sex. Results: The patients and their controls were observed to be in the Hardy­Weinberg equilibrium for SNP1 (2q24.2, rs1990760, IFIH1, T/C) and SNP2 (2q24.2, rs2111485, IFIH1, G/A), respectively (all P > 0.7). For SNP1, every T allel addition was significantly associated with 1.53 times protectiveness in terms of vitiligo risk (P = 0.033). As for SNP2, every G allel addition was associated with 1.42 times protectiveness, close to statistical significance (P = 0.100). Conclusions: We detected that for SNP1, each T allel and for SNP2, each G allel are protective in terms of vitiligo development. Hereby, we confirmed that IFIH1 gene locus has a role in GV susceptibility.

Evaluation of the gastrointestinal findings of nodulocystic acnepatients during systemic isotretinoin therapy.

BACKGROUND/AIM: Systemic isotretinoin treatment is an effective treatment modality for nodulocystic acne, the clinical use of which has been associated with reports of adverse events. We conducted a prospective study with the aim of determining the possible gastrointestinal and laboratory findings of nodulocystic acne patients during systemic isotretinoin treatment. MATERIALS AND METHODS: Seventy patients with nodulocystic acne completed the study. During the monthly follow-up visits, liver function tests and lipid profiles of the patients were evaluated and gastrointestinal system complaints were examined. RESULTS: We recorded a significant elevation in liver function tests and lipid profiles of the patients, the most prominent elevation being in plasma triglyceride concentrations. We observed that nausea, dyspepsia, abdominal pain, and diarrhea were the rare gastrointestinal symptoms encountered during systemic isotretinoin therapy. Constipation and anorectal bleeding were relatively more common symptoms and there seemed to be a relation between these two symptoms. CONCLUSION: Our study is the first to analyze the gastrointestinal findings of patients during systemic isotretinoin treatment. Dermatologists and gastroenterologists must keep in mind that, as well as known laboratory findings like hypertriglyceridemia and elevated liver function tests, systemic isotretinoin therapy may also cause significant clinical gastrointestinal findings.

A rare case of trigeminal trophic syndrome with an extensive scalp, forehead, and upper eyelid ulceration in a patient with undiagnosed Alzheimer disease.

BACKGROUND: Trigeminal Trophic Syndrome (TTS) is a rare presentation of facial ulceration, which is characterized by the triad of anesthesia, paraesthesia, and damage of trigeminal sensory branches. MAIN OBSERVATIONS: We report a unique case of TTS as an extensive forehead and scalp ulceration in a patient with undiagnosed Alzheimer disease. CONCLUSIONS: Treatment options for trigeminal trophic syndrome are limited and disappointing especially in older patients with dementia. Family education and behavioral modification therapies may be well tolerated option in this population.