Assessment of the incidence of fragmented QRS in electrocardiography in patients with systemic sclerosis and systemic lupus erythematosus.

OBJECTIVE: In systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) cardiac involvement is very common, and it might be asymptomatic. We aimed to assess the presence of fragmented QRS (fQRS) - possible indicator of a scar, diffuse damage or conduction system disturbances in those patients. METHODS: We examined 74 patients with SSc, 77 with SLE and 40 healthy controls. The incidence of fQRS in ECG was examined according to criteria by Das et al. Disease severity was estimated by Rodnan and SLICCC/ACRDI scores in SSc and SLE respectively. RESULTS: Patients with SSc were slightly older than those with SLE (53 ± 14 vs 46 ± 14 yrs), women constituted 91% and 88% of studied groups (p = 0.80). The duration of disease in both groups was similar (p = 0.59). Median of Rodnan and SLICCC/ACR-DI scores were 5 and 4 points, respectively. Left ventricle ejection fraction in both groups was similar (65.5 vs 65.1%, p = 0.51), hypertension incidence was lower in SSc (24 vs 48%, p = 0.004), patients with SLE presented prolonged corrected QT interval (432 vs 424 ms, p = 0.03). Of note, fQRS were observed in 34 (46%) SSc and 29 (38%) SLE patients, p = 0.33. Notched S waves were significantly more frequent in SSc (in 26% vs 10%, p = 0.02). fQRS occurred in 3 (7.5%) of healthy subjects only. CONCLUSION: The incidence of fQRS is similar in SSc and SLE, but is much more common than in healthy subjects. It is possible that fQRS may be considered an additional marker of heart involvement in these rare diseases.

Diagnostics of autoimmune blistering disorders: an experience of a single tertiary referral centre.

Autoimmune blistering disorders (AIBD) include a heterogeneous group of diseases characterized by the presence of autoantibodies against the structural antigens of the skin and mucous membranes. The gold standard of AIBD diagnostics is the detection of in vivo bound IgG/IgA and/or complement component 3 in the direct immunofluorescence of a perilesional biopsy. Various immunological techniques such as indirect immunofluorescence of different tissue substrates including monkey oesophagus, salt split skin, recombinant proteins of epidermis and basement membrane zone as well as ELISA systems and immunoblotting are used to characterize target antigens. Proper and early diagnosis is crucial for both treatment and prognosis since some AIBD may be associated with a malignant neoplasm.

Serum galectin-3 and galectin-3 binding protein levels in systemic lupus erythematosus and cutaneous lupus erythematosus.

INTRODUCTION: The roles of galectin-3 (Gal-3) and galectin-3 binding protein (G3BP) in systemic lupus erythematosus (SLE) are of ongoing interest, but the data are insufficient due to highly limited available studies. There are no data on cutaneous lupus erythematosus (CLE). AIM: To assess serum Gal-3 and G3BP concentrations in SLE patients with and without LE-specific skin lesions, CLE patients and to correlate levels of proteins with clinical and laboratory parameters. MATERIAL AND METHODS: The study included 71 SLE patients with and without LE-specific skin lesions, 23 CLE patients and 40 controls. Gal-3 and G3BP were measured by specific enzyme-linked immunosorbent assays (ELISA). RESULTS: Serum Gal-3 and G3BP concentrations were significantly higher in SLE with and without LE-specific lesions compared to controls, but without differences between SLE groups. Gal-3 and G3BP levels were also elevated in CLE compared to controls (p = 0.001, p = 0.005; respectively). There was a positive correlation between G3BP level and CLASI activity score both in CLE (r = 0.55, p = 0.006) and in SLE patients with LE-specific lesions (r = 0.36, p = 0.02). G3BP and Gal-3 levels did not differ in SLE with LE-specific lesions and CLE. There was a positive correlation between serum G3BP level and the SLEDAI score in SLE patients (r = 0.26, p = 0.03). CONCLUSIONS: Our findings indicate that serum G3BP and Gal-3 are elevated in CLE. Additionally, G3BP might be associated with the extent of skin lesions. There are no differences between G3BP and Gal-3 concentrations in SLE with and without LE-specific skin lesions.

Diagnosis of autoimmune subepidermal bullous diseases with mucous membrane involvement based on laser-scanning confocal microscopy.

BACKGROUND: Mucosal involvement in autoimmune subepidermal blistering disorders (ASBD) may represent the only or predominant localization. Circulating autoantibodies are detected in 50% cases. OBJECTIVE: The aim of this study was to evaluate the usefulness of fluorescence overlay antigen mapping by laser-scanning confocal microscopy (FOAM-LSCM) to identify ASBD with mucosal involvement in oral mucosa specimens. MATERIALS & METHODS: Thirty-two ASBD patients, diagnosed based on direct immunofluorescence between 2006 and 2016, were enrolled. Localization of IgG deposits bound at the basement membrane zone, relative to laminin-332 and collagen IV localization, was assessed in vivo. RESULTS: FOAM-LSCM disclosed four different immunofluorescence patterns. IgG deposits were located above laminin-332, as in bullous pemphigoid (BP-type), in 19% cases and co-localized with laminin-332 (anti-laminin-332-type) in 6% cases. IgG deposits were found below laminin-332 and above collagen IV (mucous membrane pemphigoid-type) in 59% cases, and below collagen IV (epidermolysis bullosa acquisita-type) in 16%. Circulating antibodies were found in 56% cases. CONCLUSION: The FOAM-LSCM method should be used in order to obtain a definitive diagnosis of ASBD with mucosal involvement, particularly in the presence of negative circulating antibodies.

Influence of disease severity and cardiac autonomic tone on ventricular repolarization and dispersion in electrocardiographic assessment of patients with systemic lupus erythematosus.

BACKGROUND: There are no data on the influence of disease severity and cardiac autonomic tone on ventricular repolarization and dispersion in 24-hour Holter monitoring in systemic lupus erythematosus (SLE). METHODS: Consecutive 92 SLE and 51 healthy subjects were studied. The standard 12-lead electrocardiography (ECG), Holter monitoring with heart rate turbulence (HRT) and QT, Tp-e and Tp-e/QT ratio assessment (including corrected values) were performed. Subjects with conditions causing repolarization abnormalities or insufficient number of beats suitable for QT evaluation were excluded (17 SLE and 8 controls). RESULTS: Finally, 75 SLE and 43 sex- and age-matched controls were included to the study. In SLE patients, the median disease severity score (Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SLICC/ACR-DI)) was 3.0. The mean values of QTc, cTp-e and cTp-e/QTc were significantly higher in SLE patients than in controls. QTc ≥ 460 ms was observed in 18.7% of patients using standard ECG and in 58.7% using Holter monitoring. With Holter monitoring, patients with SLICC/ACR-DI >3.0 presented longer QTc than those with SLICC/ACR-DI ≤3.0 (418±15 vs. 409 ± 16, p = 0.04), while cTp-e and cTp-e/QTc values were similar. Patients with abnormal HRT presented longer cTp-e and higher cTp-e/QTc than those with normal HRT (92 ± 52 vs. 71 ± 16 ms, p = 0.04; 0.244 ± 0.126 vs. 0.187 ± 0.035, p = 0.03), while QTc values were similar. No differences in QT and Tp-e parameters were observed according to disease duration. CONCLUSION: In SLE patients, Holter monitoring revealed QTc prolongation more frequently than standard ECG. Longer QTc values were observed in patients with more advanced disease, while increased cTp-e and cTp-e/QTc were related to cardiac autonomic dysfunction expressed by abnormal HRT.

Clinical characteristics of pruritus in patients with bullous pemphigoid: a preliminary questionnaire-based study.

INTRODUCTION: Bullous pemphigoid (BP) is the most common autoimmune blistering disease. Although pruritus is a leading symptom in BP, its specific characteristics have not been explored. AIM: To determine the itch characteristics in newly diagnosed BP patients by using the Questionnaire of Descriptive Assessment of Pruritus and visual analogue scale (VAS) and to correlate itch with disease severity. MATERIAL AND METHODS: The study included 32 patients with BP (mean age: 75.4 ±12.2 years; 20 women, 12 men), who filled in the questionnaire. Bullous Pemphigoid Disease Area Index (BPDAI) was assessed. RESULTS: In 78.1% of BP patients pruritus occurred at least once daily. Pruritus was most frequent in the evening and at night and frequently persisted for more than 10 min in more than a half of patients (long itch episodes). Aggravating factors were sweating (50.0%), heat (59.4%) and stress (46.9%), but the major relieving factor was cold (34.4%). Itch intensity in BP was assessed as moderate (mean VAS score: 5.8 points) and did not correlate with disease severity (BPDAI). BP patients declared difficulties caused by pruritus: falling asleep (53.1%) and awakening at night (50%). CONCLUSIONS: This study provided detailed characteristics in BP patients confirming that pruritus is classified as an important troublesome symptom. Therefore there is a need to search for therapeutic solutions.

The use of BIOCHIP mosaics in diagnostics of bullous pemphigoid: Evaluation and comparison to conventional multistep procedures.

BACKGROUND: Bullous pemphigoid (BP) is an autoimmune blistering disease associated with autoantibodies against BP180 and/or BP230 antigens. The immunoassays available for serological diagnostics include indirect immunofluorescence (IIF) on monkey esophagus (ME), salt-split skin (SSS), and enzyme-linked immunosorbent assay (ELISA) for BP180-NC16a and BP230. Only a few studies validated innovative BIOCHIP mosaic, but none compared agreement between BIOCHIP substrates with conventional methods separately. METHODS: We evaluated the agreement between BIOCHIP and conventional methods and assessed sensitivity and specificity in BP diagnosis. The study comprised 51 BP patients and 39 controls. RESULTS: Analysis showed very good agreement between BIOCHIP-SSS vs classic IIF-SSS (0.933, P < 0.001) and for BIOCHIP-BP180-NC16a vs ELISA-BP180-NC16a (0.933, P < 0.001). A good strength of agreement between BIOCHIP-ME vs classic IIF-ME was observed (0.694, P < 0.001) similar to BIOCHIP-BP230 vs ELISA-BP230 (0.793, P < 0.001). BIOCHIP-ME sensitivity was 51.0%, whereas IIF-ME was 76.5%. Epidermal reaction on BIOCHIP-SSS was found in 94.1% of BP patients and in all patients on IIF-SSS (sensitivity 100%). BIOCHIP-BP180-NC16a sensitivity was lower than in ELISA-BP180-NC16a (76.5% vs 82.4%). BP230 sensitivity of both methods was similar (45.1% vs 43.1%). The specificity for all antigens was 100%. CONCLUSION: BIOCHIP mosaic is a useful method presenting satisfactory agreement with conventional immunoassays.

Accuracy of Doppler echocardiography in the hemodynamic assessment of pulmonary circulation in patients with systemic sclerosis.

PURPOSE: Pulmonary hypertension (PH) is an ominous complication in systemic sclerosis patients (SSc) and echocardiography is a screening tool for its detection. The goal of this study was to assess the reliability of resting and exercise echo Doppler parameters with data obtained by right heart catheterization (RHC). MATERIAL AND METHODS: We included 91 patients (84 F, 53.3 ± 15.2 years) with SSc. Transthoracic echocardiography followed by exercise Doppler-echocardiography (EDE) were performed. A positive EDE was defined as a ≥20 mmHg increase in tricuspid regurgitation peak gradient (TRPG). RHC with exercise was performed in positive EDE patients and/or in subjects with resting TRPG > 31 mmHg. RESULTS: Finally, RHC was performed in 20 patients. The correlation for the echocardiography and invasive measurement of systolic (sPAP) and mean (mPAP) pulmonary artery pressure was r = 0.66 (p = 0.001) and r = 0.7 (p = 0.001), respectively. We also found significant correlation between echocardiography and invasive measurement of exercise sPAP r = 0.68 (p = 0.001) and exercise mPAP r = 0.67 (p = 0.002). There was a correlation between pulmonary vascular resistance (PVR) assessed by echocardiography and measured by RHC r = 0.49, p = 0.027. The equation derived within our population was: PVR by echocardiography = 9.6*TRV/TVIRVOT+0.068. We also performed ROC analysis to predict PVR > 2 WU. Our results highlight that sPAP has the highest AUC (0.802, 95% CI 0.585-1). CONCLUSION: Doppler resting and exercise echocardiography may provide a reliable, noninvasive method for determining resting and exercise sPAP, mPAP, and PVR in SSc patients, although it may underestimate or overestimate these values in some individuals. Doppler echocardiography does not replace RHC for definite hemodynamic assessment of suspected PH.

The use of BIOCHIP technique in diagnosis of different types of pemphigus: Vulgaris and foliaceus.

BACKGROUND: Pemphigus is a rare, autoimmune blistering disease characterized by autoantibodies against desmoglein 3 (Dsg3) and 1 (Dsg1) with mucosal and/or skin involvement. Main types of pemphigus include mucosal pemphigus vulgaris (m-PV), mucocutaneus pemphigus vulgaris (mc-PV) and pemphigus foliaceus (PF) determined by clinical picture, positive direct and indirect immunofluorescence, and enzyme-linked immunosorbent assay (ELISA). METHODS: We evaluated the sensitivity and specificity of a novel multi-substrate immunofluorescence technique called BIOCHIP in the diagnosis of main types of pemphigus. Additionally, we tested agreement between BIOCHIP-Dsg1 and ELISA-Dsg1 in differentiation pemphigus vulgaris subtypes. The study comprised 35 patients with pemphigus: 14 patients with PF, 21 with PV (13 with m-PV and 8 with mc-PV) and 48 controls. RESULTS: The intercellular staining on monkey esophagus substrate in BIOCHIP was observed in 23/35 pemphigus in total (sensitivity 65.7%), 17/21 PV (sensitivity 81.0%), 10/13 m-PV (sensitivity 76,9%), 7/8 mc-PV (sensitivity 87.5%) and 6/14 PF (sensitivity 42.9%), but not in 48 controls. Dsg3 positive staining in BIOCHIP was observed in 21/21 PV (sensitivity 100%), 13/13 m-PV (sensitivity 100%), 8/8 mc-PV (sensitivity 100%), whereas Dsg3 was negative in all 14 PF sera. Dsg1 reactivity was detected in 9/21 PV (sensitivity 42.8%), 2/13 m-PV (sensitivity 15,4%), 7/8 mc-PV (sensitivity 87.5%) and 13/14 PF (sensitivity 92.9%). All 48 controls were negative for both Dsg3 and Dsg1. An excellent agreement for BIOCHIP-Dsg1 and ELISA-Dsg1 for m-PV and mc-PV was found, which reflect k values of 1.0 and 0.91, respectively. CONCLUSION: BIOCHIP technique is a useful method for pemphigus diagnostics and differentiation between its subtypes: m-PV, mc-PV and PF.

The association between neurological diseases, malignancies and cardiovascular comorbidities among patients with bullous pemphigoid: Case-control study in a specialized Polish center.

BACKGROUND: Bullous pemphigoid (BP) is the most common autoimmune bullous disease associated with higher mortality and coexisting comorbidities. The strongest relationship has been reported with neurological diseases (NDs) but the particular type of ND differed depending on the study. There are some doubts on the prevalence of other comorbidities. OBJECTIVES: The aim of this study was to compare the incidence of various comorbidities in a cohort of BP patients with controls. MATERIAL AND METHODS: A cohort of 218 patients (137 females, 81 males, aged 76.2 ±11.6 years) with newly diagnosed BP who were hospitalized at a specialized center in Poland in the years 2000-2014 was included in this retrospective study. The controls consisted of 168 sexand age-matched individuals. Univariate and multivariate logistic regression analyses were performed to assess the association between the groups studied. RESULTS: At least 1 ND was present in 33.5% of BP patients vs 11.3% of controls. A strong association between the incidence of NDs and BP was found (OR = 3.76; 95% CI = 2.13-6.65; p < 0.001), especially for dementia (20.6% vs 2.9%, OR = 7.89; 95% CI = 2.99-20.85; p < 0.001). Surprisingly, BP patients with ND were older than the BP patients without ND (79.2 vs 74.7 years), and similarly for dementia (81.08 vs 74.90 years). The same was observed in comparison with controls. Arterial hypertension, among other comorbidities, was a strong independent factor associated with BP (OR = 2.17; 95% CI = 1.35-3.49; p < 0.001). Malignancies were observed more frequently in BP patients than in controls (12.8% vs 9%) but such association was significant in univariate analysis only. CONCLUSIONS: Neurological diseases, particularly dementia, had a significant association with BP. A strong relationship with arterial hypertension and weak relationship with malignancies were noted. Thus, for appropriate medical care, patients with BP need accurate screening for dementia and control of comorbidities with interdisciplinary management.

Tetracycline, nicotinamide, and lesionally administered clobetasol as a therapeutic option to prednisone in patients with bullous pemphigoid: a comparative, retrospective analysis of 106 patients with long-term follow-up.

BACKGROUND: Bullous pemphigoid (BP) is an autoimmune blistering disease associated with preexisting comorbidities and higher mortality. The interest in using therapy other than oral steroids in BP management results from severe complications and increased risk of death. The efficacy of oral doxycycline or whole-body application of topical clobetasol has been proven in randomized controlled trials. The case series study suggested that combination of tetracycline, nicotinamide, and lesionally administered clobetasol may also be useful. METHODS: We conducted a clinical 3-year retrospective study of treatment with tetracycline, nicotinamide, and lesionally administered clobetasol (TNC) in comparison to prednisone (P). Out of 106 patients (mean age 78 ± 9.9 years) with newly diagnosed BP, 59 received tetracycline 1.5 g/daily, nicotinamide 1.2 g/daily, and 0.05% lesionally administered clobetasol cream, and 47 patients - prednisone 0.5 mg/kg daily. RESULTS: The median time to disease control was achieved after 7 days in both groups. At 4 weeks, 93.2% of patients treated with TNC and 89.1% from P group achieved disease control. The median period between complete remission and relapse was 60 days in the TNC group and 90 days in the P group (P = 0.84). At least one relapse within 1 year was noted in 32.1% of patients from the TNC group and 50% from the P group (P = 0.09). The 1-year survival for the TNC and P groups was 83% and 65.9%, respectively (P = 0.04), and the 3-year survival was 71.2% and 48% (P = 0.019), respectively. CONCLUSIONS: Tetracycline and nicotinamide combined with lesionally administered clobetasol is an alternative, effective treatment with better survival rates compared to prednisone in BP.

Comparison of non-invasive assessment of arrhythmias, conduction disturbances and cardiac autonomic tone in systemic sclerosis and systemic lupus erythematosus.

Systemic sclerosis (SSc) and systemic lupus erythematosus (SLE) are connective tissue diseases presenting cardiac complications including different arrhythmias, then direct electrocardiographic comparison may be useful in everyday clinical decision making. We examined 86 adult SSc patients, 76 with SLE and 45 healthy controls. Among other examinations all subjects underwent 24-h Holter monitoring with time-domain heart rate variability and heart rate turbulence evaluation. Patients with various co-existing conditions which might markedly influence arrhythmias and autonomic modulation were excluded from further analysis (SSc n = 12, SLE n = 6). Finally, 76 SSc and 70 SLE subjects were eligible for this study, mean age 51.9 ± 13.1 and 46.5 ± 12.7 years (p = 0.11), with median disease duration 6.0 and 8.5 years (p = 0.15), respectively. As compared to SLE, patients with SSc were characterised by more frequent incidence of various supraventricular and ventricular arrhythmias. As compared to SSc, patients with SLE presented prolonged corrected QT intervals and also significant correlations between corrected QT length and heart rate variability indices. Both SSc and SLE subjects presented impaired sympathetic cardiac autonomic modulation, while indices associated with parasympathetic activity in SLE were not diminished. Disease duration was not associated with arrhythmias' occurrence (except for ventricular tachycardia in SSc, p = 0.02) and also with autonomic function in both groups of patients. Patients with SSc and SLE differ in terms of arrhythmias, conduction disturbances and cardiac autonomic tone. Regular Holter monitoring should be considered as a part of routine evaluation in connective tissue diseases patients, especially in systemic sclerosis.

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.

Ichthyosis with confetti (IWC) is a severe congenital genodermatosis characterized by ichthyosiform erythroderma since birth and confetti-like spots of normal skin appearing in childhood as a results of revertant mosaicism. This disorder is caused by mutations in KRT10 or KRT1 genes. We report a 16-year-old boy who presented ichthyosiform erythroderma with severe desquamation since birth and gradually worsening psycho-neurological symptoms (mental retardation, ataxia, dystonia, hypoacusis). The patient conspicuously lacked typical confetti-like spots at the age of 16. The molecular diagnostics by the whole exome sequencing showed a novel de novo (c.1374-2A>C) mutation in the KRT10 gene responsible for the development of IWC (KRT10 defect was confirmed by immunofluorescent study). Concurrently, the m.14484T>C mutation in mitochondrial MTND6 gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother. LHON causes frequent inherited blindness typically appearing during young adult life whose expression can be triggered by additional factors such as smoking or alcohol exposure. We speculate the effects of KRT10 and LHON mutations influence each other-skin inflammatory reaction due to severe ichthyosis might trigger the development of psychoneurological abnormalities whereas the mitochondrial mutation may reduce revertant mosaicism phenomenon resulting in the lack of confetti-like spots characteristic for IWC. However, based on a single case we should be cautious about attributing phenotypes to digenic mechanisms without functional data.

Mortality in bullous pemphigoid and prognostic factors in 1st and 3rd year of follow-up in specialized centre in Poland.

Bullous pemphigoid (BP) is associated with higher mortality and coexisting comorbidities, some of them affecting poor prognosis. The aim of the study was to identify prognostic factors causing greater mortality both in the 1st and 3rd year of follow-up and to determine the 1-, 2-, 3-year mortality rates, standardized mortality ratio (SMR) in Polish BP patients. All patients with BP (a cohort of 205 patients, mean age 76.2 years) diagnosed between 5 January 2000 and 10 December 2013 in a referral unit for autoimmune bullous diseases at the university hospital in Poland were included retrospectively. Mortality data were obtained from the Centre for Document Personalization at the Minister of Interior and Administration. Our original observation was that prednisone in moderate dose (0.5 mg kg-1) in monotherapy was an independent risk factor of fatal prognosis in the 1st year of follow-up, assessed using multivariate analysis. We confirmed the strong correlation between neurological diseases and greater mortality. Both in the 1st and 3rd year of follow-up, dementia and Parkinson disease resulted in increased mortality. We also found that arrhythmias significantly increased mortality in the 1st and 3rd year of follow-up. The prognostic factors in BP changed over time of follow-up. In the 3rd year of observation, the age above 77, longer hospitalization and BP severity were associated with greater mortality. We observed poorer prognosis in BP patients than age-matched general Polish population. The 1-, 2-, 3-year mortality rates were 22.4, 31.2, 39.5% and SMR was 3.8 (95% CI 3.4-3.7).

Measuring of quality of life in autoimmune blistering disorders in Poland. Validation of disease - specific Autoimmune Bullous Disease Quality of Life (ABQOL) and the Treatment Autoimmune Bullous Disease Quality of Life (TABQOL) questionnaires.

PURPOSE: Autoimmune bullous dermatoses (AIBD) are rare, severe diseases resulting from some antibodies activity against the different adhesion structures within the skin and/or mucosa. Few studies investigated quality of life (QOL) in AIBD by generic and dermatology-specific instruments, all reporting strong impact on QOL. Recently, disease-specific measurement tools have been developed: Autoimmune Bullous Disease Quality of Life (ABQOL) and Treatment of Autoimmune Bullous Disease Quality of Life (TABQOL) questionnaires. The aim of this study was to test the reliability and validity of ABQOL and TABQOL by developing the first foreign language versions and to evaluate ABQOL and TABQOL in Polish patients. MATERIAL AND METHODS: The study enrolled 80 patients from the tertiary referral center for AIBD at the outpatient clinic or on admission to the hospital. Sixty six patients completed the 17-item questionnaires of each ABQOL and TABQOL at day 0 and after 5-7 days. Both questionnaires were translated into Polish according to protocol. RESULTS: The internal consistency and test-retest reliability were high (Cronbach α=0.95 for ABQOL, α=0.87 for TABQOL), (R=0.98 for ABQOL, R=0.86 for TABQOL). In convergent validity, the correlation of ABQOL and TABQOL was strong (R=0.81), but low with objective disease activity scales. The strongest impact of AIBD on QOL has been observed in flares and in patients with the onset below 70 years of age. The patients with bullous pemphigoid had the highest QOL compared to other AIBD patients. CONCLUSIONS: The ABQOL and TABQOL are reliable and valid instruments for the assessment of QOL in AIBD.

Development of bullous pemphigoid during the haemodialysis of a young man: case report and literature survey.

Haemodialysis is the most frequent form of renal replacement therapy (RRT) in patients with end-stage renal disorder (ESRD). Patients with ESRD frequently develop skin problems, mainly xerosis, pruritus and hyperpigmentation, as well as bullous diseases, mainly porphyria or pseudoporphyria and, in some cases, bullous pemphigoid (BP). BP is the most common autoimmune sub-epidermal blistering disease, and it predominantly affects elderly people. Clinically, BP is characterised by generalised pruritic, bullous eruptions and urticaria-like lesions. Usually, BP is an idiopathic disorder; however, in some cases, underlying internal disorders are present, like diabetes or neurological disorders. Herein, we present a 33-year-old man with ESRD, maintained on haemodialysis, who developed BP. There are only six cases with BP provoked by the placement of a fistula for haemodialysis. BP in the current patient was confirmed by direct immunofluorescence (DIF) and indirect immunofluorescence using BIOCHIP. The patient responded promptly to tertracycline and 0·05% clobetasol propionate lesionally. However, the relationship between BP and the fistula for haemodialisys still remains unknown. It is highly likely that the skin injury associated with fistula placement was responsible for the alteration of the basement membrane zone (BMZ) and the stimulation of the immune system, leading to BP development. To explain the real role of fistula placement as a provocative factor in BP, other such cases are required for assessment.

Development of bullous pemphigoid in a patient with psoriasis and metabolic syndrome.

Bullous pemphigoid (BP) is an autoimmune subepidermal blistering disease that most commonly affects adults older than 60 years, whereas psoriasis vulgaris (PV) is a chronic immune-mediated disease that affects both children and adults. Bullous pemphigoid and PV may coexist with each other as well as with various other internal disorders, which may lead to early death. We report the case of a 35-year-old man with a 15-year history of PV and obesity who developed tense blisters with annular arrangement and normal-appearing perilesional skin localized mainly on the trunk, arms, and legs resembling linear IgA bullous dermatosis. This case demonstrated the development of BP in a patient with chronic PV and metabolic syndrome. Although the nature of this unique coincidence is not clear, methotrexate (MTX) seems to be first-line regimen for such cases.

The EVER genes - the genetic etiology of carcinogenesis in epidermodysplasia verruciformis and a possible role in non-epidermodysplasia verruciformis patients.

In recent years, the two adjacent novel EVER1 and EVER2 genes have been identified, whose mutations are responsible for the development of epidermodysplasia verruciformis (EV). Epidermodysplasia verruciformis is a rare, autosomal recessive genodermatosis associated with increased risk of skin carcinoma. Up to now 7 mutations in the EVER1 gene and 5 mutations in the EVER2 gene have been identified only in EV. It was also determined that the EVER genes belong to a novel gene family, the transmembrane channel-like (TMC) family, and are responsible for properly functioning zinc homeostasis. These observations have given new insights into EV pathogenesis.

Systemic involvement in localized scleroderma/morphea.

Localized scleroderma (LoSc), also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles and bone may also be involved. In some cases, systemic manifestation with visceral abnormalities may occur. Several publications have focused on significant aspects of LoSc: genetics, immunity, epidemiology, scoring systems, and unification of classifications. Clinical studies featuring large cohorts with the disease published by various international study groups have been of great value in furthering the diagnostic and therapeutic management of LoSc.