Search Results (17)

Background/Objectives: Despite its long-standing recognition, the etiopathogenesis of idiopathic granulomatous mastitis (IGM) remains poorly understood. This study aims to investigate the relationship between IGM and food intolerance, allergies, and immunological factors to shed light on its etiology. Materials and Methods: This case–control study included 32 patients with IGM and 32 healthy women. In order to examine their potential relevance to allergy and immunology, serum interleukin (IL)-4, IL-4 receptor, histamine, and histamine-releasing factor (HRF) were measured by ELISA. Furthermore, serum IgG antibodies against specific food allergens were measured to evaluate food intolerance. Results: The patient group exhibited significantly higher intolerance values for lentils and curry compared to the control group (p = 0.023 and p = 0.012, respectively). Histamine (p < 0.001) and IL-4 (p = 0.003) levels were elevated in IGM patients compared to the control group, while HRF and IL-4R outcomes did not show any significant differences (p > 0.05). Conclusions: Elevated histamine and IL-4 levels may suggest the involvement of allergy and immunological factors in IGM’s etiopathogenesis. The integration of anti-histamine medications for IGM patients with elevated histamine levels could provide an alternative therapeutic strategy. Full article

Granulomatous mastitis (GM) is a rare, benign, but chronic and recurrent inflammatory breast disease that significantly impacts physical and psychological well-being. It often presents symptoms such as pain, swelling, and discharge, leading to diagnostic confusion with malignancy. The etiology of GM remains unclear, though autoimmune and multifactorial components are suspected. This study aimed to explore the genetic underpinnings of GM using whole-exome sequencing (WES) on 22 GM patients and 52 healthy controls to identify single nucleotide variants (SNVs) and copy number variations (CNVs) potentially linked to the disease. WES analysis revealed novel SNVs in six genes: BRCA2 (rs169547), CFTR (rs4727853), NCF1 (rs10614), PTPN22 (rs2476601), HLA-DRB1 (seven variants), and C3 (rs406514). Notably, most of these variants are associated with immune regulation and inflammatory pathways, supporting the hypothesis that GM is an autoimmune disease. However, all identified variants were classified as benign according to the American College of Medical Genetics and Genomics (ACMG) guidelines, necessitating further investigation into their potential functional effects. Despite conducting CNV analysis, no significant variations were identified. This study represents a foundational step in linking genetic predisposition to GM and highlights the need for integrating genetic, clinical, and functional data to better understand GM’s pathophysiology. Future research should focus on larger cohorts, functional studies, and exploring multifactorial contributors to GM, including hormonal and environmental factors. Full article

Objective: The study aimed to use the systemic lupus erythematosus risk probability index (SLERPI) to assess if patients with idiopathic granulomatous mastitis (IGM) meet the criteria for systemic lupus erythematosus (SLE). Methods: A total of 62 patients with IGM and 55 age- and sex-matched healthy controls (HC) were enrolled. The study included patients who were over 18 years old and had been diagnosed with IGM using a true-cut biopsy. The participants’ demographic, clinical, and laboratory data were recorded in detail. The presence of autoantibodies, such as RF, CCP, C3, C4, ANA, ENA profile, and Anti-dsDNA was documented. For the detection of SLE in IGM patients, we used the SLERPI (SLE risk probability index). Results: A total of 62 patients diagnosed with idiopathic granulomatous mastitis (age 35.22 ± 8.34, BMI 27.15 ± 3.41) were compared to 55 healthy controls (age 32.54 ± 8.67, BMI 26.97 ± 3.54). The present study assessed the performance of SLERPI in IGM, and SLERPI positivity was observed in 12 out of 62 (19.4%) IGM patients. There was a significant difference in arthritis and ANA levels in the SLERPI subgroups (p < 001). Conclusions: The SLERPI index can be utilized to identify patients suspected of having systemic lupus erythematosus (SLE) in the IGM cohort. Full article

Granulomatous lobular mastitis (GLM) is a rare benign breast inflammatory disease that affects women of childbearing age. Corynebacterium species, especially Corynebacterium kroppenstedtii, was reported as the pathogen of GLM. A recent study showed that the C. kroppenstedtii complex is composed of C. kroppenstedtii and two novel species, C. parakroppenstedtii and C. pseudokroppenstedtii. The study presents seven C. kroppenstedtii-like strains isolated from GLM patients. However, they turned out to be six strains of C. parakroppenstedtii and one strain of C. pseudokroppenstedtii according to 16sRNA sequencing. In order to conduct a phylogenetic study, we further sequenced the fusA and rpoB genes, which were frequently employed in studies of Corynebacterium species. Novel Mass Spectral Peaks (MSPs) for C. parakroppenstedtii were created with Bruker MALDI-TOF MS. Then, the identification power of the MSPs was tested by C. parakroppenstedtii strains and remotely related Corynebacterum spp. The antibiotic sensitivity tests were performed according to the CLSI M45 guidelines. All of the strains were not resistant to β-lactams, vancomycin or linezolid. However, applying erythromycin and clindamycin could be fruitless. Phenotypic identification using a Vitek2 ANC ID card proved all of the C. parakroppenstedtii strains were identified as Actinomycete naeslundii. The test of Ala-Phe-Pro arylamidase and urease could be employed as the characteristics to distinguish C. pseudokroppenstedtii from C. parakroppenstedtii. Here, we present the identification, antibiotic sensitivity tests (ASTs) and epidemiological investigation of two novel C. kroppenstedtii-like species with the purpose of improving the understanding of C. kroppenstedtii-like species and related diseases. Full article

Background: Idiopathic granulomatous mastitis (IGM) is a rare, benign inflammatory breast condition often mistaken for inflammatory breast cancer and, therefore, requires a biopsy for accurate diagnosis. Although not cancerous, IGM can cause emotional distress because of severe pain and ensuing breast deformity. Differentiating IGM from other breast inflammations caused by infections is essential. IGM mostly affects premenopausal women and is potentially associated with recent pregnancies and breastfeeding. The risk factors, including smoking and contraceptive use, have inconsistent associations. Steroid responses suggest an autoimmune component, though specific markers are lacking. Methods: We performed a narrative review on potential risk factors, diagnostics, and therapy of IGM. Results: Diagnostics and clinical management of IGM are challenging. The treatment options include NSAIDs, steroids, surgery, antibiotics, immunosuppressants, prolactin suppressants, and observation, each with varying effectiveness and side effects. Conclusions: Current IGM treatment evidence is limited, based on case reports and small series. There is no consensus on the optimal management strategy for this disease. The GRAMAREG study by the EUBREAST Study Group aims to collect comprehensive data on IGM to improve diagnostic and treatment guidelines. By enrolling patients with confirmed IGM, the study seeks to develop evidence-based recommendations, enhancing patient care and understanding of this condition. Full article

Idiopathic granulomatous mastitis (IGM) is a rare condition characterised by chronic inflammation and granuloma formation in the breast. The aetiology of IGM is unclear. By focusing on the protein-coding regions of the genome, where most disease-related mutations often occur, whole-exome sequencing (WES) is a powerful approach for investigating rare and complex conditions, like IGM. We report WES results on paired blood and tissue samples from eight IGM patients. Samples were processed using standard genomic protocols. Somatic variants were called with two analytical pipelines: nf-core/sarek with Strelka2 and GATK4 with Mutect2. Our WES study of eight patients did not find evidence supporting a clear genetic component. The discrepancies between variant calling algorithms, along with the considerable genetic heterogeneity observed amongst the eight IGM cases, indicate that common genetic drivers are not readily identifiable. With only three genes, CHIT1, CEP170, and CTR9, recurrently altering in multiple cases, the genetic basis of IGM remains uncertain. The absence of validation for somatic variants by Sanger sequencing raises further questions about the role of genetic mutations in the disease. Other potential contributors to the disease should be explored. Full article

Background and Objectives: Granulomatous mastitis is a benign disease with a clinical presentation similar to that of breast cancer, and is most commonly observed in women of childbearing age. Although it has been suggested that autoimmune diseases are involved in its pathogenesis, no specific treatments have been established. The occurrence of this disease during pregnancy has rarely been reported. We presented the case of a 37-year-old woman who complained of left breast induration at 24 weeks’ gestation. Materials and Methods: She was pregnant and manifested a dichorionic, diamniotic placenta. At 24 weeks of gestation, the patient experienced a sensation of hardness in her left breast. Mastitis was suspected, and she was treated with cephem antibiotics. Simultaneously, she was diagnosed with erythema nodosum in the extremities. As her symptoms did not improve, an incisional drainage was performed. Bacterial cultures were obtained at 31 weeks of gestation, and Corynebacterium kroppenstedtii was detected. Results: An elective cesarean section was performed at 37 weeks of gestation, and the baby was delivered safely. After delivery, a needle biopsy was performed, and the patient was diagnosed with granulomatous mastitis. She was completely cured with prednisolone after weaning. In this case, the patient’s condition was maintained through incision and drainage, as well as antibiotic, anti-inflammatory, and analgesic drugs during pregnancy. This approach was chosen, taking into consideration the potential side effects of steroids. Conclusions: This case suggests that incisional drainage and antibiotic therapy, as well as steroids and surgery, may be considered in the treatment of granulomatous mastitis occurring during pregnancy. This may also be true for management during delivery. After delivery, breastfeeding and steroidal therapy proved to be effective in treating the condition. Full article

Objective: To compare and determine discriminative magnetic resonance imaging (MRI) findings of idiopathic granulomatous mastitis (IGM) and breast cancer (BC) that present as non-mass enhancement. Materials and Methods: This retrospective study includes 68 IGM and 75 BC cases that presented with non-mass enhancement on breast MRI. All patients with a previous history of breast surgery, radiotherapy, or chemotherapy due to BC or a previous history of mastitis were excluded. On MRI images, presence of architectural distortion skin thickening, edema, hyperintense ducts containing protein, dilated fat-containing ducts and axillary adenopathies were noted. Cysts with enhancing walls, lesion size, lesion location, fistulas, distribution, internal enhancement pattern and kinetic features of non-mass enhancement were recorded. Apparent diffusion coefficient (ADC) values were calculated. Pearson chi-square test, Fisher’s exact test, independent t test and Mann–Whitney U test were used as needed for statistical analysis and comparison. Multivariate logistic regression model was used to determine the independent predictors. Results: IGM patients were significantly younger than BC patients (p < 0.001). Cysts with thin (p < 0.05) or thick walls (p = 0.001), multiple cystic lesions, (p < 0.001), cystic lesions draining to the skin (p < 0.001), and skin fistulas (p < 0.05) were detected more often in IGM. Central (p < 0.05) and periareolar (p < 0.001) location and focal skin thickening (p < 0.05) were significantly more common in IGM. Architectural distortion (p = 0.001) and diffuse skin thickening (p < 0.05) were associated with BC. Multiple regional distribution was more common in IGM, whereas diffuse distribution and clumped enhancement were more common in BC (p < 0.05). In kinetic analysis, persistent enhancement was more common in IGM, whereas plateau and wash-out types were more common in BC (p < 0.001). Independent predictors for BC were age, diffuse skin thickening and kinetic curve types. There was no significant difference in the diffusion characteristics. Based on these findings, MRI had a sensitivity, specificity and accuracy of 88%, 67.65%, and 78.32%, respectively, in differentiating IGM from BC. Conclusions: In conclusion, for non-mass enhancement, MRI can rule out malignancy with a considerably high sensitivity; however, specificity is still low, as many IGM patients have overlapping findings. Final diagnosis should be complemented with histopathology whenever necessary. Full article

Idiopathic granulomatous mastitis (IGM) is a chronic inflammatory breast disease treated with local and systemic corticosteroids. This study aims to evaluate the efficacy of reducing corticosteroids doses in IGM cases based on shear wave elastography (SWE) tissue stiffness measurements. This prospective study included IGM patients who received systemic or local corticosteroids between January 2020 and September 2022. A 20% or more reduction in tissue elasticity values (kPa) was considered a positive response to treatment in the study group, and the corticosteroids dose was reduced. The control group was dosed routinely. All patients were followed for 2 years to compare treatment efficacy, duration, total corticosteroids dose, recurrence, and side effects. There were 12 patients (9 local/3 systemic corticosteroids) in the study group and 24 patients (17 local/7 systemic corticosteroids) in the control group. Ten (83.4%) out of 12 patients in the study group were successfully treated by reducing corticosteroid doses with follow-up, and 2 (16.6%) out of 12 patients were reverted to the initial treatment protocol due to an increase in elasticity values during the follow-up. Nevertheless, successful treatment results were obtained in these two patients without reducing the corticosteroid dose. When compared to the control group, the median corticosteroid dose in the study group was significantly lower in patients using both local (p < 0.01) and systemic (p < 0.01) corticosteroids. A significant negative correlation was found between the rate of decrease in elasticity values and the median dose of corticosteroids (r = −0.649, p < 0.05) and the median treatment time (r = −0.751, p < 0.01). Side effects due to corticosteroids were found to be significantly lower in the study group (p < 0.05). According to our first and preliminary results, the SWE-correlated dose-modifying technique may reduce corticosteroid doses and side effects without significantly compromising treatment efficacy. Full article

Idiopathic granulomatous mastitis (IGM) is a rare and benign inflammatory breast disease with ambiguous aetiology. Contrastingly, lactational mastitis (LM) is commonly diagnosed in breastfeeding women. To investigate IGM aetiology, we profiled the microbial flora of pus and skin in patients with IGM and LM. A total of 26 patients with IGM and 6 patients with LM were included in the study. The 16S rRNA sequencing libraries were constructed from 16S rRNA gene amplified from total DNA extracted from pus and skin swabs in patients with IGM and LM controls. Constructed libraries were multiplexed and paired-end sequenced on HiSeq4000. Metagenomic analysis was conducted using modified microbiome abundance analysis suite customised R-resource for paired pus and skin samples. Microbiome multivariable association analyses were performed using linear models. A total of 21 IGM and 3 LM paired pus and skin samples underwent metagenomic analysis. Bray−Curtis ecological dissimilarity distance showed dissimilarity across four sample types (IGM pus, IGM skin, LM pus, and LM skin; PERMANOVA, p < 0.001). No characteristic dominant genus was observed across the IGM samples. The IGM pus samples were more diverse than corresponding IGM skin samples (Shannon and Simpson index; Wilcoxon paired signed-rank tests, p = 0.022 and p = 0.07). Corynebacterium kroppenstedtii, reportedly associated with IGM in the literature, was higher in IGM pus samples than paired skin samples (Wilcoxon, p = 0.022). Three other species and nineteen genera were statistically significant in paired IGM pus–skin comparison after antibiotic treatment adjustment and multiple comparisons correction. Microbial profiles are unique between patients with IGM and LM. Inter-patient variability and polymicrobial IGM pus samples cannot implicate specific genus or species as an infectious cause for IGM. Full article

Inflammatory breast cancer (IBC) is an aggressive type of breast cancer. It leads to a significantly shorter survival than other types of breast cancer in the U.S. The American Joint Committee on Cancer (AJCC) defines the diagnosis based on specific criteria. However, the clinical presentation of IBC in North Africa (Egypt, Morocco, and Tunisia) does not agree, in many cases, with the AJCC criteria. Healthcare providers with expertise in IBC diagnosis are limited because of the rare nature of the disease. This paper reviewed current imaging modalities for IBC diagnosis and proposed a computer-aided diagnosis system using bilateral mammograms for early and improved diagnosis. The National Institute of Cancer in Egypt provided the image dataset consisting of IBC and non-IBC cancer cases. Type 1 and Type 2 fuzzy logic classifiers use the IBC markers that the expert team identified and extracted carefully. As this research is a pioneering work in its field, we focused on breast skin thickening, its percentage, the level of nipple retraction, bilateral breast density asymmetry, and the ratio of the breast density of both breasts in bilateral digital mammogram images. Granulomatous mastitis cases are not included in the dataset. The system’s performance is evaluated according to the accuracy, recall, precision, F1 score, and area under the curve. The system achieved accuracy in the range of 92.3–100%. Full article

Cystic neutrophilic granulomatous mastitis is a rarely reported, benign, mastitis that is not associated with lactation. The pathophysiology is still unknown; however, there is often a relationship with Corynebacterium kroppenstedtii. Cystic neutrophilic mastitis can have deep seated tender nodules and cutaneous ulceration which can clinically resemble pyoderma gangrenous. It can be treatment refractory and can progress to a point where mastectomy is required. This case series reports two patients treated with adalimumab with remission of disease. One patient first received dapsone with remission of symptoms, but incompatible side effects resulted in discontinuation. Both dapsone and adalimumab appear to provide disease remission in patients with cystic neutrophilic granulomatous mastitis. Full article

Background: Non-puerperal mastitis (NPM), a recurrent chronic inflammation of non-lactating breast, often proves tremendous difficulty in treatment, and it may give rise to its complicated symptoms and unclear etiology. Furthermore, the clinical morbidity rate of NPM has been increasing in recent years. Methods: Overall, 284 patients diagnosed with NPM were consecutively recruited as cases in this study, and patients with benign breast disease (n = 1128) were enrolled as control. The clinical, biomedical, and pathological indicators were analyzed. Univariate and multivariate logistic analysis were used to distinguish risks between NPM and benign breast mass patients. Furthermore, according to the pathological characteristics, the patients of NPM were classified into two subgroups: mammary duct ectasia (MDE) and granulomatous lobular mastitis (GLM). The differences of biomedical indicators between MDE and GLM groups were also analyzed. Results: Compared with benign breast mass group, the level of high-density lipoprotein (HDL-C) significantly decreased, while lipoprotein(a) (Lp(a)) and blood glucose (GLU) both increased in NPM group. According to univariate and multivariate logistic analysis, the onset age and HDL-C were generally decreased, while Lp(a) and GLU were increased in NPM group. The onset age, HDL-C, Lp(a), and GLU were modeled to distinguish NPM and benign breast mass. Significant differences were also observed between MDE and GLM patients in biomedical indicators, such as lipoprotein(a) (Lp(a)), lactate dehydrogenase (LDH), creatine kinase (CK), total cholesterol (TC), and so on. Conclusions: Our results indicated for the first time that biomarkers were associated with NPM. The biomedical indicators involved in lipid metabolism might be important factors in the development and treatment of NPM. In addition, MDE and GLM are two diseases with different inflammatory states of NPM. These findings would be helpful for a better understanding of NPM and give us some insights to develop new diagnostic and therapeutic strategies. Full article

Background and Aim: Studies on hematological parameters in the differential diagnosis of idiopathic granulomatous mastitis (IGM) and breast cancer (BC) are limited. This study investigated whether preoperative fibrinogen and hematological indexes can be used in the differential diagnosis of patients with IGM and early-onset BC. Methods: Fifty patients with BC, 55 patients with IGM, and 50 healthy volunteer women were included in the study. Results: There was a statistically significant difference between the IGM and the BC with respect to fibrinogen, fibrinogen/albumin (Fib/Alb) ratio, C-reactive protein (CRP), white blood cells (WBC), neutrophils, neutrophil–lymphocyte ratio (NLR), platelet–lymphocyte ratio (PLR), and monocyte values. When fibrinogen (p < 0.001), the Fib/Alb ratio (p < 0.001), CRP (p < 0.001), WBC (p < 0.001), neutrophil (p < 0.001), NLR (p < 0.001), monocyte (p = 0.008), and 2-hour sedimentation rate (p < 0.001) were compared between the groups, the highest levels were found in the IGM group. There was a negative relationship between CRP and albumin, and a positive relationship was observed between CRP and WBC, NLR, PLR, and 2-h sedimentation rate. CRP had the highest sensitivity (95%), whereas the Fib/Alb ratio (86%) had the highest specificity. Patients with recurrent IGM had increased fibrinogen, Fib/Alb, CRP, neutrophils, NLR, and 2-h erythrocyte sedimentation rate (ESR) and decreased lymphocyte levels compared to non-recurrent patients. Conclusions: Preoperative CRP, albumin, fibrinogen, Fib/Alb, WBC, neutrophil, NLR, monocyte, and 2-h ESR have considerable potential to be early and sensitive biomarkers of IGM caused by inflammation compared to BC. These parameters also have a significant effect on the recurrence of the disease, suggesting their potential as a practical guide for the differential diagnosis of BC from IGM. Full article

Idiopathic granulomatous mastitis (IGM) is a rare inflammatory breast disease mimicking breast cancer. Limited research has been conducted on the application of serum biomarkers. This study aims to investigate the association of serum biomarkers with disease severity in patients with IGM. From November 2011 to March 2020, medical records of patients with IGM were reviewed. Serum cytokine levels were measured in patients and healthy controls between July 2018 and March 2020. A total of 41 patients with histologically proven IGM were found. Serum interleukin (IL)-6 level was significantly higher in patients with IGM (n = 11) than healthy controls (n = 7). Serum IL-6 and C-reactive protein (CRP) levels were significantly higher in patients with severe disease than mild and moderate disease. Serum IL-6 (Spearman’s ρ = 0.855; p < 0.001) and CRP (Spearman’s ρ = 0.838; p = 0.001) levels were associated with time to resolution. A higher serum CRP level was associated with a longer time to resolution (B = 0.322; p < 0.001) in multiple linear regression analysis. Serum IL-6 and CRP levels can be used as biomarkers for the evaluation of disease severity in IGM. IL-6 may play a crucial role in the immunopathology of IGM. Full article