ABSTRACT
PASS syndrome is a rare autoinflammatory disease characterized by acne vulgaris, hidradenitis suppurativa, pyoderma gangrenosum, and ankylosing spondylitis. Unlike other autoinflammatory disorders such as PAPA and PASH syndrome, there is no documented gene mutation link. Although there are no established treatment guidelines due to the rarity of these diseases, systemic corticosteroids, biologics, and immunosuppressive drugs are used currently. In our report, we presented a case of PASS syndrome who was unresponsive to adalimumab and in whom we observed improvement in both skin and joint manifestations with intravenous immunoglobulin (IVIG) and anti-IL-1 treatment.
Subject(s)
Acne Vulgaris , Hidradenitis Suppurativa , Pyoderma Gangrenosum , Humans , Immunoglobulins, Intravenous/therapeutic use , Hidradenitis Suppurativa/drug therapy , Acne Vulgaris/complications , Acne Vulgaris/drug therapy , Acne Vulgaris/genetics , Syndrome , Skin , Pyoderma Gangrenosum/drug therapyABSTRACT
Mycosis Fungoides (MF) makes up the most of the cutaneous lymphomas. As a malignant disease, the greatest diagnostical challenge is to timely differentiate MF from inflammatory diseases. Contemporary computational methods successfully identify cell nuclei in histological specimens. Deep learning methods are especially favored for such tasks. A deep learning model was used to detect nuclei Hematoxylin-Eosin(H-E) stained micrographs. Nuclear properties are extracted after detection. A multi-layer perceptron classifier is used to detect lymphocytes specifically among the detected nuclei. The comparisons for each property between MF and non-MF were carried out using statistical tests the results are compared with the findings in the literature to provide a descriptive analysis as well. Random forest classifier method is used to build a model to classify MF and non-MF lymphocytes. 10 nuclear properties were statistically significantly different between MF and non-MF specimens. MF nuclei were smaller, darker and more heterogenous. Lymphocyte detection algorithm had an average 90.5% prediction power and MF detection algorithm had an average 94.2% prediction power. This project aims to fill the gap between computational advancement and medical practice. The models could make MF diagnoses easier, more accurate and earlier. The results also challenge the manually examined and defined nuclear properties of MF with the help of data abundance and computer objectivity.
Subject(s)
Deep Learning , Mycosis Fungoides , Skin Neoplasms , Humans , Mycosis Fungoides/pathology , Skin Neoplasms/pathology , Lymphocytes/pathology , BiopsyABSTRACT
Food and Drug Administration approved indications of hyaluronic acid fillers include some facial wrinkles or skin folds like naso-labial folds, perioral wrinkles, volumization of lip, cheek, chin, and dorsal region of the hands, also acne scars and lipoatrophy of human immunodeficiency virus positive patients. This article reviews the off-label indications of hyaluronic acid fillers such as connective tissue disorders (lupus erythematosus, scleroderma, and dermatomyositis), lipoatrophy associated with other diseases, breast volumization, giving volume to buttocks and the feet, implant into bone, tendon, ligament or muscle, injection to glabella, nose, periorbital region, forehead, or neck.
Subject(s)
Cosmetic Techniques , Dermal Fillers , Skin Aging , Humans , Hyaluronic Acid/adverse effects , Off-Label Use , Face , Dermal Fillers/adverse effectsABSTRACT
BACKGROUND: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder in which one experiences abdominal pain, tension, cramping, bloating, and changes in the form and frequency of defecation, without an underlying organic disease. Many skin diseases have been reported to be more common in people with functional bowel disease. To our knowledge, however, no previous study investigated the potential relationship between hidradenitis suppurativa (HS) and IBS. In this study, we aimed to examine the potential association between IBS and HS. METHODS: Patients with HS and healthy subjects were enrolled in this cross-sectional study. All participants were assessed for the presence of IBS. ROME IV criteria were used to identify IBS cases. Hurley staging, modified Sartorius score, and physician's global assessment score were applied to define clinical severity and staging of HS. RESULTS: According to the Rome IV diagnostic criteria, 54 (67.50%) of 80 HS patients and 23 (28.75%) of 80 control group were diagnosed with IBS. The frequency of IBS was statistically significantly higher in the patient group than in the control group (P < 0.001). No statistically significant difference was found between the two groups in terms of abnormal stool frequency and family history of IBS (P = 0.28, P = 0.862, respectively). Abnormal stool form, mucus in stool, abdominal distension, feeling of incomplete evacuation were statistically significantly higher in HS patients compared to the controls (P = 0.01, P = 0.02, P < 0.001, P = 0.001, respectively).
Subject(s)
Hidradenitis Suppurativa , Irritable Bowel Syndrome , Cross-Sectional Studies , Hidradenitis Suppurativa/complications , Hidradenitis Suppurativa/epidemiology , Humans , Irritable Bowel Syndrome/complications , Irritable Bowel Syndrome/epidemiologyABSTRACT
PURPOSE: Hyaluronic acid (HA) injection is a popular nonsurgical, rejuvenating procedure to treat glabellar frown lines, which has devastating complications such as blindness and skin necrosis due to the arterial occlusion of supratrochlear artery (STA). Therefore, when injecting into the frown lines, knowledge of the STA's depth and plane is necessary to prevent possible adverse events. The aim of this study was to identify the depths of STA in the area of the frown lines in order to maximize safety during filler injections. METHODS: Supratrochlear artery depth measurements were performed at the level of eyebrow and at the level of 1.5 cm above the eyebrow. Superficial duplex Doppler ultrasonography was performed of 71 cases. RESULTS: In the eyebrow level, the epidermis-artery distance (EAD) is between 1,8 and 5.9 mm, and the artery-periost distance (APD) is between 0.7 and 3.7 mm. In the 1.5 cm superior level of the eyebrow, the EAD is between 1.8 and 5.1 mm and the APD is between 0.6 and 3.8 mm. There was no significant difference between the depth measurements of the right and left STA. At the eyebrow level, APD is greater in men than in women. As the body mass index increases, the EAD and APD depth increases. EAD depth increases with increasing age. CONCLUSIONS: Based on the findings of this study, safe filler injections to correct the glabellar frown lines can be possible with intradermal injections just below the ryhtide. In the glabellar region, subcutaneous and supraperiosteal injections seems to be risky.
Subject(s)
Forehead , Ophthalmic Artery , Male , Humans , Female , Forehead/blood supply , Ophthalmic Artery/diagnostic imaging , Injections/adverse effects , Blindness/etiology , Ultrasonography, Doppler/adverse effectsABSTRACT
Behcet's disease (BD) is an autoimmune disorder that affects the blood vessels and thus could entangle virtually every organ of the body. Oral ulceration, genital aphthous lesions, and ocular inflammation are the main manifestations of the disease that tend to have a chronic, relapsing-remitting course. The disease comes from an association between environmental and genetic backgrounds. The clustering of cases in families and the high rate of co-occurrence of the disease in siblings were the initial findings that proposed a genetic basis for BD. Later on, multiple case-control studies and genome-wide association studies were able to clarify particular genes included in the etiopathogenesis of BD. The major gene polymorphisms include HLA and HLA-related genes, interleukins, and other genes involved in inflammation and transcription activation. Herein we have summarized the susceptibility genes that are associated with BD. Investigations on the genetics of BD could potentially clarify the disease pathogenesis and provide insights for the development of better treatments.
Subject(s)
Behcet Syndrome , Behcet Syndrome/genetics , Behcet Syndrome/pathology , Genetic Predisposition to Disease , Genome-Wide Association Study , Humans , Immunogenetics , Polymorphism, GeneticABSTRACT
Systemic sclerosis (SSc) is a rare disease with a prevalence ranging from 7 to 700 cases per million. Like with most autoimmune diseases, both environmental and genetic factors are involved in the pathogenesis of the SSc. Though the incidence of SSc in the family members of those affected and the concordance rate in twins is very low, inheritance is still the strongest risk factor of SSc. Thus, multiple studies have been conducted to identify the genes responsible for this inheritance including candidate gene association studies and genome-wide analyses. Variations and mutations in the genes encoding cytokines, adhesion molecules, and signaling proteins involved in the interaction between endothelial cells, fibroblasts, and immune cells have been found to be associated with SSc susceptibility. In this chapter, these genes and their contribution to the pathogenesis of the SSc are discussed in detail. These genes are categorized into five major groups of HLA genes, genes involved in the innate immune responses, genes affecting adaptive immune responses, genes with a role in the fibrogenesis pathways, and apoptosis, autophagy, and pyroptosis-related genes.
Subject(s)
Autoimmune Diseases , Scleroderma, Systemic , Endothelial Cells/metabolism , Genome-Wide Association Study , Humans , Immunogenetics , Scleroderma, Systemic/genetics , Scleroderma, Systemic/metabolismABSTRACT
Lupus erythematosus (LE) is a heterogeneous disease with a wide range of manifestations ranging from localized lesions in cutaneous lupus erythematosus (CLE) to severe disseminated disease in systemic lupus erythematosus (SLE).Lupus results from a complex interaction between genetic and epigenetic backgrounds and environmental triggers that cause loss of tolerance to self-antigens and the formation of autoantibodies. Genetic susceptibility plays a key role in the pathogenesis of lupus erythematosus. In most cases, multiple common alleles with modest effect sizes are combined to result in the polygenic inheritance of the disease but monogenic variants of lupus have also been described. Genes from the innate and adaptive immune system along with genes involved in apoptosis and immunoglobulin clearance have been linked to SLE. This chapter aims to explore the functions of these genes and their contribution to the pathogenesis of the disease.
Subject(s)
Lupus Erythematosus, Cutaneous , Lupus Erythematosus, Systemic , Autoantibodies , Genetic Predisposition to Disease , Humans , Immunogenetics , Lupus Erythematosus, Cutaneous/genetics , Lupus Erythematosus, Systemic/geneticsABSTRACT
Non-infectious granulomatous skin diseases are a wide category of well-defined reactive inflammatory conditions that share main similarities. While cutaneous sarcoidosis is the prototype of non-infectious (sterile) granulomatous dermatitides, there are several other entities in this group including granuloma annulare and necrobiosis lipoidica. Non-infectious granulomatous diseases are caused by complex associations between genetic situations and environmental triggers resulting in a variety of cutaneous and systemic manifestations. The genetic backgrounds of these diseases are the main topic of this manuscript.
Subject(s)
Granuloma Annulare , Necrobiosis Lipoidica , Sarcoidosis , Granuloma/genetics , Humans , Immunogenetics , Sarcoidosis/geneticsABSTRACT
BACKGROUND: Rosacea is a chronic inflammatory skin disease that has been reported to be associated with many systemic disorders including respiratory diseases. AIMS: This study aims to investigate respiratory function in patients with rosacea. PATIENTS/METHODS: Patients with rosacea and age- and gender-matched healthy volunteers were included in this cross-sectional study. Spirometric pulmonary function tests including the percentage of forced vital capacity (FVC%), percentage of forced expiratory volume in one second (FEV 1%), forced expiratory flow at 25-75% of FVC (FEF 25-75%), and FEV 1/FVC ratio was assessed in both patient and controls. The potential relationship between rosacea severity and pulmonary functions was assessed. RESULTS: A total of 120 patients with rosacea and 120 healthy controls were enrolled in the study. Compared to the controls, FEV 1%, FEV 1/FVC%, and FEF 25-75% values were significantly lower in patients with rosacea. Lower FEV 1/FVC% values were found to be associated with disease severity. FEV 1%, FEV 1/FVC%, and FEF 25-75% values were found to be more useful in differentiating the patients from healthy subjects. CONCLUSIONS: This study showed that patients with rosacea may have abnormal respiratory function compared to healthy subjects. Besides, disease severity was associated with worse respiratory functions. We believe that patients with rosacea, particularly those with additional risk factors, should be screened for respiratory disorders.
Subject(s)
Pulmonary Disease, Chronic Obstructive , Rosacea , Cross-Sectional Studies , Forced Expiratory Volume , Humans , Pulmonary Disease, Chronic Obstructive/complications , Pulmonary Disease, Chronic Obstructive/diagnosis , Pulmonary Disease, Chronic Obstructive/epidemiology , Rosacea/complications , Rosacea/diagnosis , Rosacea/epidemiology , Vital CapacityABSTRACT
PURPOSE: Androgenetic alopecia (AGA) is the most common cause of hair loss in males. Physical examination and history are the most important examinations in diagnosis of the disease. As yet, there is no diagnostic method to be able to determine which individuals will develop AGA. Shear-wave elastography (SWE) is a novel diagnostic tool, which can evaluate tissue stiffness. Superb microvascular imaging (SMI) can determine low flow in microvessels. The aim of the current study was to determine whether or not AGA would develop in individuals with normal hair and a family history of AGA using B-mode US, SMI, and SWE. METHODS: The study included 26 patients clinically diagnosed with AGA and a control group of 26 volunteers. RESULTS: Thickness with the distance from the epidermis to the calvarium (ECD) on the hairline and cranial subcutaneous tissue thickness (CSTD) were determined to be statistically significantly thinner in the AGA group than in the control group (p < 0.0001). For the differentiation of the AGA patients, the cutoff value was determined to be 5.5 mm for ECD and 4.05 mm for CSTD. The cranial epidermis-dermis (CED) stiffness values both as meter/second (m/s) and kilopascals (kPa) were statistically significantly lower in the AGA patients than in the control group (p < 0.0001). The cutoff values were 6.075 as m/s and 104.4 as kPa. CONCLUSIONS: The results of this study demonstrated that differentiation could be made of individuals before the development of AGA from normal healthy individuals with CSTD measurement on B-mode US and CED stiffness measurement on SWE.
Subject(s)
Elasticity Imaging Techniques , Alopecia/diagnostic imaging , Elasticity Imaging Techniques/methods , Humans , Male , Ultrasonography , Ultrasonography, Doppler/methodsABSTRACT
INTRODUCTION: Behçet disease (BD) is an auto-inflammatory condition characterized by multisystemic vasculitis. Oral mucosal capillaroscopy is an easy-to-use, repeatable, non-invasive method for evaluating mucosal microvasculature, contributing to the differential diagnosis and prognosis of various acute and chronic inflammatory diseases. OBJECTIVES: This study aims to characterize and describe the oral labial mucosal capillary findings in patients with BD using handheld dermatoscopy and to investigate the relationship between the capillary findings and the severity of the disease. METHODS: This cross-sectional study included patients with BD and healthy subjects. Capillaroscopic examination of the oral labial mucosa in each subject was performed by a handheld dermatoscope using polarized light. The clinical severity of BD was evaluated using Krause's Clinical Severity Scoring for BD. RESULTS: Sixty patients with BD and 60 healthy subjects were enrolled in the study. The frequencies of irregular capillaries, microhemorrhages, glomerular vessels, megacapillaries, and tortuous vessels were statistically significantly higher in the patient group when compared to the healthy individuals. In addition, a correlation was detected between the oral mucosal capillaroscopic findings and disease duration, severity, and vascular complications. CONCLUSIONS: Our study is the first to explore the potential role of oral mucosal capillaroscopic examination in patients with BD. Data obtained from this study indicated that oral mucosal capillaroscopy may be a useful tool to demonstrate microvascular damage in patients with BD.
ABSTRACT
Human papillomavirus infection is relatively common in communities. Thus, determining an effective and painless treatment method, especially in pediatric patients is of utmost importance. This study aimed to compare the outcomes of three different methods of treating plantar warts in pediatric patients. Children with verruca plantaris treated with a salicylic acid-lactic acid combination once daily (SA/LA 1), a salicylic acid-lactic acid combination applied in three to seven layers under occlusion every 3 days (SA/LA 2), or a combination of 5-fluorouracil (0.5%) and salicylic acid (10%) (SA/5-FU) were evaluated retrospectively. Treatment responses and recurrence rates were also evaluated after a minimum of 4 months. Among the 98 children with verruca plantaris, 19 were treated with SA/LA 1, 53 were treated with SA/LA 2, and 18 were treated with SA/5-FU; the eight patients who received cryotherapy were excluded. The mean treatment duration was significantly shorter in the SA/LA 2 group than in the SA/LA 1 group and the SA/5-FU group. (p = 0.000 for both) Application of a salicylic acid-lactic acid combination in multiple layers under occlusion is a safe, painless, and effective treatment method for plantar warts in children.
Subject(s)
Warts , Child , Cryotherapy , Fluorouracil/adverse effects , Humans , Retrospective Studies , Salicylic Acid/adverse effects , Treatment Outcome , Warts/diagnosis , Warts/drug therapyABSTRACT
Cutaneous leishmaniasis is caused by a flagellated protozoan transmitted by the bite of a female sandfly. The clinical and demographic details of this disease, predominantly affecting immunocompetent individuals, are recognized by the WHO as a Neglected Tropical Disease. We sought to determine the usability of CD1a immunohistochemical staining to detect amastigotes especially in cases where leishmaniasis is suspected but evident amastigotes could not observed. We also evaluated the relationship between CD1a expression and leishmania subtypes. A total of 84 cases diagnosed with leishmaniasis or suspected leishmania on histo-morphological evaluation of skin biopsies were included in the study. Amastigotes were easily detected in hematoxylin eosin in 18 of 84 cases. In 23 cases, amastigotes could not detect in hematoxylin eosin sections. The immunostains for CD1a are demonstrated amastigotes in 60 of 84 cases. However, a small number of amastigotes became visible by positive staining with CD1a in 43.4% of the cases in that amastigotes could not detected in hematoxylin eosin. A statistically significant correlation was found between amastigote amount in hematoxylin eosin and CD1a expression. In addition, a significant correlation was observed between CD1a expression, age and clinical pre-diagnosis of the cases. It was observed that amastigotes were easily detected in hematoxylin eosin in Leishmania Infantum / donovani positive cases in polymerase chain reaction (PCR), and at the same time, it was found that CD1a expression was significantly higher. Using histopathology examination with CD1a staining and/or PCR methods, a diagnosis of leishmaniasis can be established and early treatment initiated. This contributes to reduce transmission and prevalence.
Subject(s)
Leishmania , Leishmaniasis, Cutaneous , Biopsy , Female , Humans , Leishmaniasis, Cutaneous/diagnosis , Polymerase Chain Reaction , SkinABSTRACT
OBJECTIVES: Onychomycosis is the general term to define fungal nail infections that arise from dermatophytes, non-dermatophytic moulds and yeasts. Thiol/disulphide homeostasis is a new indicator of oxidative stress. In this study, we aimed to investigate the role of thiol/disulphide balance in the pathogenesis of onychomycosis. METHODS: This cross-sectional study included adult patients with onychomycosis who were admitted to the dermatology department and healthy adult volunteers without any dermatologic or systemic condition. The patients and controls were evaluated in terms of native thiol, total thiol, and disulphide levels, and disulphide/native thiol, disulphide/total thiol and native thiol/total thiol ratios. The possible association between these parameters and clinical subtypes of onychomycosis and demographic characteristics was also investigated. RESULTS: A total of 52 patients with onychomycosis and 50 healthy subjects were enrolled in the study. The patient group showed lower levels of total thiol, native thiol and native thiol/total thiol ratio, and higher ratios of disulphide/native thiol and disulphide/total thiol. No statistically significant relationship was found between the parameters, clinical subtypes of onychomycosis and demographic characteristics (p > .05). CONCLUSION: Patients with onychomycosis showed a shifted thiol/disulphide homeostasis towards oxidative stress with a reduction in thiols and an increase in disulphide/native thiol, and disulphide/total thiol ratios. These findings may indicate the role of oxidative stress in the pathogenesis of onychomycosis.
Subject(s)
Disulfides/metabolism , Homeostasis , Onychomycosis/physiopathology , Oxidative Stress , Sulfhydryl Compounds/metabolism , Adult , Case-Control Studies , Cross-Sectional Studies , Female , Humans , Male , Onychomycosis/microbiologyABSTRACT
Background/aim: Chitotriosidase (ChT) is an enzyme secreted by activated macrophages and neutrophils in response to proinflammatory signals. There is growing evidence indicating that ChT activity reflects the systemic inflammatory status. This study aimed to investigate whether serum ChT activity increased in patients with psoriasis and related comorbidities. Materials and methods: This cross-sectional study included 53 (28 with associated comorbidities and 25 without comorbidities) patients with psoriasis and 52 healthy volunteers. All participants underwent laboratory investigations for serum ChT levels, complete blood count, erythrocyte sedimentation rate, C-reactive protein, and serum lipid levels. Results: The patients with psoriasis showed significantly higher levels of ChT activity as compared to the healthy controls (23.5 ± 11.4 vs. 17.5 ± 10.4 µmol/mL/hour; p = 0.015). Additionally, the ChT activity was significantly higher in patients with comorbidities than in those without (p = 0.042). Conclusion: Our data support the pathogenetic role of inflammatory processes induced by macrophage activation in patients with psoriasis and related comorbidities. We believe that high ChT activity in patients with psoriasis may serve as an early prediction of the possible related comorbidities.
Subject(s)
Hexosaminidases/metabolism , Inflammation/blood , Psoriasis/complications , Adolescent , Adult , Aged , Biomarkers/blood , Comorbidity , Cross-Sectional Studies , Female , Hexosaminidases/blood , Humans , Inflammation/epidemiology , Male , Middle Aged , Psoriasis/epidemiology , Turkey/epidemiologyABSTRACT
Coronavirus disease 2019 (COVID-19) is a multisystemic disease that can cause progressive lung failure, organ dysfunction, and coagulation disorder associated with high mortality and morbidity. COVID-19 is known to either primarily cause skin symptoms or increase existing skin diseases. Human papillomavirus (HPV) is a DNA virus that can cause benign and malignant neoplasms. Mucocutaneous verruca vulgaris are common benign lesions of HPV. Here, we report a case of verruca vulgaris regressed after COVID-19.
Subject(s)
Alphapapillomavirus , COVID-19 , Papillomavirus Infections , Humans , Papillomaviridae , Papillomavirus Infections/complications , SARS-CoV-2ABSTRACT
Both systemic inflammation and oxidative stress play crucial roles in the pathogenesis of vitiligo. In recent studies, monocyte to high-density lipoprotein cholesterol ratio (MHR), monocyte to lymphocyte ratio (MLR), neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR), mean platelet volume (MPV) and plateletcrit (PCT) have been shown to reflect inflammation and oxidative stress in chronic inflammatory and autoimmune diseases. In this study, we aimed to investigate the hematological and inflammatory parameters in patients with vitiligo and to evaluate their possible relationship with disease severity. The parameters including MHR, MLR, NLR, PLR, MPV, and PCT were retrospectively investigated in patients with vitiligo and healthy controls. Disease severity was evaluated using the vitiligo extent tensity index (VETI) score. A total of 180 patients with vitiligo, and age-gender-matched 180 healthy controls were enrolled in the study. MHR, MLR, PLR, PCT values were found to be significantly higher in patients with vitiligo (p < 0.05). MPV and NLR values showed no statistically significant difference between the two groups. A positive correlation was also detected between MHR and MLR values, disease duration, and VETI score (p < 0.05). We suggest that MHR and MLR can be used as markers of inflammation and oxidative stress in patients with vitiligo. Both markers may also reflect disease severity.