Diagnostic Challenges in a Family with Dominant Dystrophic Epidermolysis Bullosa and Isolated Hereditary Nail Disorder: Paternal Gonosomal Mosaicism for COL7A1 Mutation and Maternal RSPO4 Variant.

Dystrophic epidermolysis bullosa (DEB) has long been recognized as a well-known genodermatosis, caused by COL7A1 gene pathogenic variants. Isolated anonychia associated with RSPO4 gene mutation is a recently described non-syndromic autosomal recessive condition. In this family, a 13-year-old girl presented with severe epidermolysis bullosa symptoms. Family history revealed milder but similar complaints in the siblings, and anonychia affecting all nails in the mother and maternal relatives. The father did not have any signs of DEB. Genetic testing revealed heterozygous c.6127G>A (p.Gly2043Arg) variant in the COL7A1 (NM_000094.4) gene, in the proband and her affected siblings. The variant was not detected in the mother or father, prompting investigation into parental mosaicism. Detection of the variant in sperm sample suggested paternal mosaicism. Additionally, RSPO4 gene (NM_001029871.4) was sequenced in the mother and two of her affected sisters for suspected non-syndromic isolated anonychia, revealing homozygous c.79+1G>A variant. Isolated nail disease in the mother was initially thought to be the result of DDEB nails-only subtype and the DEB in the children was inherited from the mother. However, further clinical and genetic investigation showed that the condition in the patient and her siblings arose from gonosomal mosaicism in the father and the nail phenotype in the mother is a separate coincidental condition. This report aims to serve as an example for similar cases and highlight the importance of detailed genetic analysis guided by comprehensive medical history in reaching a diagnosis.

Analysis of clinical characteristics and factors affecting treatment responses in patients with pyoderma gangrenosum: a multicenter study of 239 patients☆.

BACKGROUND: Pyoderma Gangrenosum (PG) is a chronic disease characterized by recalcitrant skin ulcers. OBJECTIVE: We aimed to evaluate the demographic, clinical characteristics, treatments and factors affecting the treatment responses of patients with PG. METHODS: We performed a multicenter study of 12 tertiary care centers. We analyzed the data of the patients who were followed up with a diagnosis of PG between the years 2012‒2022 retrospectively. RESULTS: We included a total of 239 patients of whom 143 were female and 96 were male, with an average age of 54.2 ±â€¯17.4 years. The most common treatment was systemic steroids (n = 181, 75.7%). Among these patients, 50.8% (n = 92) used systemic steroids as the sole systemic agent, while 49.2% (n = 89) used at least one adjuvant immunosuppressive agent. The independent factors determined in regression analysis to influence response to systemic steroids positively were disease onset age ≥ 30-years, negative pathergy, absence of leukocytosis, negative wound culture, presence of a single lesion, and absence of upper extremity involvement. Biological agents were used in 18.4% (n = 44) of the patients in the present study. We also analyzed pathergy positive PG and early onset (onset age < 30) PG separately due to their distinct clinical features which were revealed during statistical analysis. STUDY LIMITATIONS: Retrospective nature of the present study. CONCLUSIONS: Analyses of the factors influencing treatment responses are addressed in this study. Also, we concluded that investigation for accompanying autoinflammatory diseases of pathergy positive PG and early onset PG is necessary and the patients in these two groups are more resistant to treatment, necessitating more complicated treatments.

X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene.

Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome and telomere biology disorder, usullay consisting of a triad of oral leucoplakia, dystrophic nails, reticular skin pigmentation. The diagnosis in the majority of cases can be made following all the clinical findings of this triad are established. Here we report 7 years-old boy who had oral leukoplakia and nail abnormality without skin involvement, associated with bone marrow failure diagnosed with X-linked DC due to dyskerin (DKC1) mutation. Our report emphasizes the fact that clinical suspicion can prevent fatal consequences since all manifestations may not always be seen collectively.

A Comparison of Adult and Juvenile Behcet Patients and a Look at Clinical Trends: Retrospective Data from a Turkish Follow-Up Cohort Study.

BACKGROUND: Previous reports indicate that juvenile Behçet's disease (BD) may have a different course than adult BD. However, as a direct comparison with adult Behçet patients has only been made in a limited number of studies, the issue is still controversial. OBJECTIVES: The primary aim of our study was to compare clinical manifestations in a large cohort of juvenile and adult Behçet patients registered in a single centre. The secondary aim of our study was to compare the data of newly diagnosed patients registered between 1998 and 2020 with the data of those registered between 1976 and 1997. METHODS: Data were collected retrospectively from medical records of patients registered between 1998 and 2020. Juvenile BD was defined as fulfilment of International Criteria for Behçet's Disease at or before 16 years of age. RESULTS: A similar course of disease was noted in juvenile and adult Behçet patients with no significant difference in the frequency of mucocutaneous findings, major organ involvement, and positivity of the pathergy test. A comparison of the periods, 1976-1997 and 1998-2020, revealed no significant difference in the prevalence of mucocutaneous lesions and major organ involvement. CONCLUSIONS: Our results indicate that juvenile and adult Behçet patients have a similar course with a similar frequency of clinical manifestations. Contrary to reports suggesting an overall tendency to milder disease over time, no decrease in the risk of major organ involvements was observed. A significant trend towards a decline in pathergy test positivity was noted.

Evaluation of chronic pruritus and associated skin findings in patients with diabetes mellitus.

Background/aim: To explore the dermatological lesions associated with chronic pruritus in patients who were followed up at our clinic for type 1 and type 2 diabetes mellitus (DM). Materials and methods: The study population consisted of 249 patients with DM, who presented to the endocrinology clinic at Ankara University Faculty of Medicine between January 2022, and March 2022, regardless of whether they had reported experiencing pruritus symptoms. The visual analog scale and 5-D itch scale were used to determine the severity of itching in patients. Dermatological examination findings were also evaluated. Results: Of the 249 patients with DM, mean duration since diabetes was diagnosed was 12 ± 9.2 [median 10 (0.3-46)] years, and the mean HbA1c levels were 8.1% ± 2.1%. Pruritus was detected in 77 (30.9%) patients and the mean duration of diabetes diagnosis was 13.4 ± 9.7 years. Examination of the microvascular and macrovascular complications showed that the incidence of retinopathy, nephropathy, neuropathy and peripheral arterial disease was 31.2% (p = 0.003), 31.2% (p = 0.005), 66.2% (p < 0.001) and 10.4% (p = 0.038), respectively, in the group with pruritus. These incidences were significantly higher in the group with pruritus than in those without pruritus. Dermatological examination showed that the most common condition was xerosis (64%), followed by fungal skin infection (16%) and bullous pemphigoid (8%). No skin findings were noted in 7% of patients who complained of itching. Conclusion: Chronic pruritus may be associated with several factors such as poor glycemic control, high BMI and microvascular and macrovascular complications in patients with DM. Especially in patients with severe generalized pruritus who do not respond to standard antipruritic treatments, the use of DPP-4 inhibitors, a class of oral antidiabetic agents, should be questioned and all medications being used by the patient should be reviewed.

Evaluation of HLA class I and HLA class II allele profile and its relationship with clinical features in patients with alopecia areata: a case-control study.

BACKGROUND: Alopecia areata (AA) is an autoimmune disease where autoimmune dysregulations along with genetic susceptibility are hypothesized to play a role in pathogenesis. OBJECTIVE: The aim of this study in to evaluate HLA-A, HLA-B, HLA-C, HLA-DQB1, and HLA-DRB1 profile and its relationship with clinical features in AA patients. MATERIALS AND METHODS: Ninety-eight patients with AA and 100 healthy controls were included in the study. HLA-A, HLA-B, HLA-C, HLA-DQB1, and HLA-DRB1 frequencies were analyzed using polymerase chain reaction-sequence specific primers (PCR-SSP). RESULTS: HLA-B*39 and HLA-HLA-DRB1*15 allele frequencies were increased (p = .022 and p = .023, respectively), HLA-A*11 and HLA-B*35 frequencies were decreased (p = .006 and p = .014, respectively) in AA patients. HLA-B*13 and HLA-DRB1*11 were associated with poor prognostic factors. A class I allele, HLA-B*13 was associated with recurrence (p = .023) and presence of nevus flammeus (p = .022), while the class II allele HLA-DRB1*11 was associated with widespread hair loss (diffuse or universal alopecia) (p = .026), presence of ophiasis (p = .049) and juvenile onset (p = .018). CONCLUSION: Belonging to two different classes of HLA family, HLA-B*13 and HLA-DRB1*11 alleles identified separate set of risk factors. In addition to increasing the risk of AA, HLA alleles may affect the prognosis of the disease.

Serum galectin-3 levels in patients with psoriasis.

INTRODUCTION: Galectin-3 is a ß-galactoside-binding lectin associated with cellular proliferation, inflammation and angiogenesis, which are the major characteristics of psoriatic skin. OBJECTIVES: To investigate serum galectin-3 levels in psoriasis patients compared with healthy controls and to study its relationship with disease characteristics. METHODS: Seventy-eight patients diagnosed with psoriasis and 78 age- and sex-matched healthy volunteers were included in the study. Serum galectin-3, IL-17, IL-6 and TNF-α levels were measured using Enzyme-linked immunosorbent assay (ELISA). RESULTS: Serum Galectin-3, IL-17, IL-6 and TNF-α levels were significantly higher in psoriasis patients compared with control group (P < .001, P = .003, P < .001 and P < .001, respectively). A cut-off value of 10 ng/mL for galectin-3 was set after receiver operating characteristic analysis. A serum galectin-3 level >10 ng/mL increased the risk of psoriasis by 14.5 times (95% CI: 6.6-32.3, P < .001) and a serum galectin-3 level >10 ng/mL predicted psoriasis with 83.3% sensitivity and 74.3% specificity. No statistically significant association was observed between serum galectin-3 concentrations and disease characteristics including disease severity, presence of psoriatic arthritis, nail involvement and psoriatic comorbidity. No statistically significant correlation was observed between serum galectin-3 level and serum IL-17, IL-6 and TNF-α levels (all three P values > .05). CONCLUSIONS: Elevated serum galectin-3 levels in psoriasis patients may indicate a possible role of galectin-3 in pathogenesis of psoriasis.

Factors affecting adherence and patient satisfaction with treatment: a cross-sectional study of 500 patients with acne vulgaris.

Background: Acne Vulgaris is a chronic inflammatory disease that requires long-term treatment. Adherence to treatment is a problem in chronic diseases and may affect treatment outcomes.Objective: We aim to investigate treatment adherence and satisfaction of patients with acne and identify independent factors that affect them.Methods: Five hundred patients with acne were included in this cross-sectional study. Demographic and clinical characteristics of the patients were recorded. Severity of acne was assessed using the Investigator Global Assessment (IGA) scale, and a five-point Likert scale was used to assess patients' satisfaction and adherence.Results: Adherence to treatment was poor in 64.4% of the patients. Multivariate logistic regression analysis showed that using oral isotretinoin (OR: 4.1, 95% CI 2.44-6.92, p < .001) and satisfaction with treatment (OR: 2.1, 95% CI 1.31-3.43, p = .002) were independent factors that affect adherence in patients. 51.8% of the patients were satisfied with their treatments and treatment satisfaction was higher in females (OR: 2.2, 95% CI 1.3-3.8, p = .004) and patients using oral isotretinoin (OR: 14.8, 95% CI 9.4-23.2, p < .001).Conclusions: Treatment adherence is poor among patients with acne. Identifying the factor that affects adherence may help the dermatologist recognize non-adherent patients and develop strategies to improve adherence.

Clinical characteristics and associations of palmoplantar pustulosis: an observational study

Abstract Background: Palmoplantar pustulosis is a chronic and relapsing disease of the palms and soles, which is characterized by scattered clusters of pinhead-sized, sterile pustules. Objective: The aim of the present study was to determine demographic features, co-morbidities, and relation of palmoplantar pustulosis with psoriasis. Methods: A total of 48 patients (M/F: 15/33) were enrolled in the present study. A detailed history regarding age of onset, palmoplantar pustulosis duration, number of recurrences, personal and family history of psoriasis, accompanying arthritis, sternoclavicular tenderness, dental fillings, smoking status, and autoimmune disease was obtained; thorough dermatological examination was carried out. Patch testing results and laboratory investigations for thyroid autoimmunity were recorded. Results: Thirty-five of 48 patients (72.9%) were current smokers. Twenty of the 48 patients (41.7%) had dental fillings. There was not any significant correlation between palmoplantar pustulosis duration and dental filling duration (p = 0.170). Psoriasis was not detected in any patients either in history or in dermatological examination. Nail involvement and joint complaints were observed in seven of 48 patients (14%) and in nine of 48 patients (18%), respectively. Autoimmune thyroiditis was observed in four of 48 patients (12%). Patients with patch testing positivity (12.5% of patients, M/F: 1/5) had no considerable association for history of external contact with these materials. Study limitations: Retrospective analysis. Conclusion: Palmoplantar pustulosis appears to be a distinct entity from psoriasis. Routine thyroid functions test could be analyzed, but patch testing is not required in patients with palmoplantar pustulosis. Also, patients with palmoplantar pustulosis must be evaluated for musculoskeletal symptoms and signs.

Clinical characteristics and associations of palmoplantar pustulosis: an observational study.

BACKGROUND: Palmoplantar pustulosis is a chronic and relapsing disease of the palms and soles, which is characterized by scattered clusters of pinhead-sized, sterile pustules. OBJECTIVE: The aim of the present study was to determine demographic features, co-morbidities, and relation of palmoplantar pustulosis with psoriasis. METHODS: A total of 48 patients (M/F: 15/33) were enrolled in the present study. A detailed history regarding age of onset, palmoplantar pustulosis duration, number of recurrences, personal and family history of psoriasis, accompanying arthritis, sternoclavicular tenderness, dental fillings, smoking status, and autoimmune disease was obtained; thorough dermatological examination was carried out. Patch testing results and laboratory investigations for thyroid autoimmunity were recorded. RESULTS: Thirty-five of 48 patients (72.9%) were current smokers. Twenty of the 48 patients (41.7%) had dental fillings. There was not any significant correlation between palmoplantar pustulosis duration and dental filling duration (p=0.170). Psoriasis was not detected in any patients either in history or in dermatological examination. Nail involvement and joint complaints were observed in seven of 48 patients (14%) and in nine of 48 patients (18%), respectively. Autoimmune thyroiditis was observed in four of 48 patients (12%). Patients with patch testing positivity (12.5% of patients, M/F: 1/5) had no considerable association for history of external contact with these materials. STUDY LIMITATIONS: Retrospective analysis. CONCLUSION: Palmoplantar pustulosis appears to be a distinct entity from psoriasis. Routine thyroid functions test could be analyzed, but patch testing is not required in patients with palmoplantar pustulosis. Also, patients with palmoplantar pustulosis must be evaluated for musculoskeletal symptoms and signs.

Rosacea associated with increased risk of generalized anxiety disorder: a case-control study of prevalence and risk of anxiety in patients with rosacea.

BACKGROUND: Rosacea may result in emotional distress and anxiety. However, data on the presence of generalized anxiety disorder in rosacea patients are scarce. OBJECTIVE: The aim of the study was to detect the frequency and level of anxiety and depression in patients with rosacea. METHODS: A total of 194 consecutive rosacea patients and 194 age- and sex-matched controls were enrolled. Severity of rosacea was assessed in patients according to the criteria of the National Rosacea Society Ethics Committee. Both patients and controls were evaluated by the Generalized Anxiety Disorder 7-item scale, and severity was measured by the Generalized Anxiety Disorder-Adult. RESULTS: Individuals who were diagnosed with an anxiety and/or depressive disorder were more common in patient group (24.7% vs. 7.2%, p<0,01). Female patients were particularly at risk for having generalized anxiety disorder (OR=2.8; 95% CI 1.15-7.37; p=0.02). STUDY LIMITATIONS: Single center study and limited sample size. CONCLUSIONS: Rosacea patients show greater risk of having anxiety disorders, including generalized anxiety disorder. Female patients, those with lower educational levels, those with phymatous subtype, untreated patients, and patients with prior psychiatric morbidity may be at particular risk for anxiety. It is essential to consider the psychological characteristics of patients to improve their well-being.

Rosacea associated with increased risk of generalized anxiety disorder: a case-control study of prevalence and risk of anxiety in patients with rosacea

Abstract Background: Rosacea may result in emotional distress and anxiety. However, data on the presence of generalized anxiety disorder in rosacea patients are scarce. Objective: The aim of the study was to detect the frequency and level of anxiety and depression in patients with rosacea. Methods: A total of 194 consecutive rosacea patients and 194 age- and sex-matched controls were enrolled. Severity of rosacea was assessed in patients according to the criteria of the National Rosacea Society Ethics Committee. Both patients and controls were evaluated by the Generalized Anxiety Disorder 7-item scale, and severity was measured by the Generalized Anxiety Disorder-Adult. Results: Individuals who were diagnosed with an anxiety and/or depressive disorder were more common in patient group (24.7% vs. 7.2%, p < 0,01). Female patients were particularly at risk for having generalized anxiety disorder (OR = 2.8; 95% CI 1.15-7.37; p = 0.02). Study limitations: Single center study and limited sample size. Conclusions: Rosacea patients show greater risk of having anxiety disorders, including generalized anxiety disorder. Female patients, those with lower educational levels, those with phymatous subtype, untreated patients, and patients with prior psychiatric morbidity may be at particular risk for anxiety. It is essential to consider the psychological characteristics of patients to improve their well-being.

Elevated neutrophil to lymphocyte ratio as an indicator of secondary erythema nodosum, a retrospective observational study

Background/aim: Erythema nodosum (EN) is an inflammatory disorder of subcutaneous tissue. Although etiopathogenesis of the disease is unknown, many predisposing factors such as infections, systemic disease, and drugs have been identified. Neutrophil to lymphocyte ratio (NLR) has been shown to be a novel inflammatory marker in many dermatological diseases. The aim of our study is to investigate NLR in EN patients and evaluate its relation to the underlying cause of the disease. Materials and methods: Between 2014 and 2018, clinical and laboratory data of 395 patients diagnosed with EN and 395 controls were extracted from patient files. EN patients were grouped as idiopathic EN and secondary EN (EN with an identified underlying cause). Clinical and laboratory characteristics of the two groups were compared Results: NLR was elevated in EN patients compared to controls (median of 2.38 vs. 1.55, P < 0.001). Among EN patients, NLR was also elevated in patients with secondary EN. In multivariate logistic regression model NLR (> 2.11), RDW-CV (> 13.65), and CRP (> 5.5) were identified as risk factors for secondary EN (relative risks were 17.16, 2.69, and 2, respectively). Conclusion: Elevated NLR (> 2.11) may be used as a parameter to discriminate secondary EN from idiopathic EN.

Minimize the regular laboratory monitoring during the systemic isotretinoin treatment: data of 704 patients with acne vulgaris.

Backround: Despite extensive usage of systemic isotretinoin in patients with acne for many years, laboratory monitoring protocols for adverse effects depend on the centers and there is no standardized practice for frequency and type of laboratory testing. We aimed to decrease unnecessary monitoring and to standardize our general clinical practice of our department as well as to provide patient comfort and cost saving. Materials and methods: The medical charts of 704 acne patients treated with systemic isotretinoin were reviewed retrospectively. The National Cancer Institute common terminology criteria for adverse events v3.0 grading system was used in order to categorize the laboratory abnormalities of liver functions and lipid levels. Results: All laboratory abnormalities were grade I. Abnormal liver function was seen in 7.2% of the patients (n = 51), maximum values were ALT: 87 IU/L, AST: 97 IU/L (normal values, ALT: 5-41 IU/L, AST: 5-40 IU/L) and median time of the abnormalities in liver function tests was in the second month. Lipid profile abnormalities were detected in 58% of the patients (n = 401). Maximum values during the laboratory monitoring were Tg: 481 mg/dL CHOL: 314 mg/dL, LDL: 259 mg/dL (normal values, Tg: 0-200 mg/dL, CHOL.: 0-200 mg/dL, LDL: 0-100 mg/dL). The median time of lipid abnormalities was in the first month (1-3 months). Abnormalities related to CBC were seen in 8.2% of the patients (n = 58). The median time of CBC abnormality was the second month of treatment. Anemia, leukopenia and thrombocytopenia were seen in 3.4%, 3.7%, and 1.6% of the patients respectively. Conclusion: Clinically insignificant and reversible CBC abnormalities, mild to moderate elevation of liver transaminases and serum lipids are the most common laboratory abnormalities in patients with acne treated with oral isotretinoin. Due to these abnormalities are reversible even the isotretinoin therapy continued, and generally there is no need to discontinuation of treatment due to laboratory abnormalities, frequent biochemical monitoring is not recommended.

Assessment of Metabolic Profile and Ischemia-modified Albumin Level in Patients with Alopecia Areata: A Case-Control Study.

BACKGROUND: Alopecia areata (AA) is an autoimmune-mediated hair follicle disorder. In the literature, there is no study evaluating metabolic syndrome and levels of ischemia-modified albumin (IMA) which is proposed as an oxidative stress biomarker in patients with AA. AIMS: The aim was to investigate the presence of metabolic syndrome and the levels of IMA, small dense low-density lipoprotein (sd-LDL), and visfatin levels in AA patients. SETTINGS AND DESIGN: A hospital-based cross-sectional study was undertaken among AA patients and controls. SUBJECTS AND METHODS: Thirty-five patients with AA and 35 sex-, age-, and body mass index-matched healthy controls were enrolled. Clinical and laboratory parameters of metabolic syndrome were examined in all participants. Furthermore, IMA, sd-LDL, and visfatin levels were assessed and analyzed with regard to disease pattern, severity and extent, severity of alopecia tool score, duration, and recurrence. RESULTS: The median IMA and adjusted IMA levels were significantly increased compared with controls (P<0.05 and P=0.002, respectively). Patients with pull test positivity displayed higher levels of adjusted IMA levels (P<0.05). In AA group, there was a positive correlation between adjusted IMA and waist circumference (r=0.443, P=0.008), adjusted IMA and triglyceride levels (r=0.535, P=0.001), and adjusted IMA and sd-LDL levels (r=0.46, P<0.05). We observed no statistically significant difference in fasting blood glucose and lipid profile, sd-LDL, and visfatin levels of the patients and healthy controls. CONCLUSIONS: AA patients and controls have similar metabolic profile. Raised levels of adjusted IMA levels may be associated with antioxidant/oxidant imbalance and with risk of cardiovascular disease.

Educational level and job status are the most important factors affecting compliance with oral antihistamine therapy for patients with chronic urticaria.

BACKGROUND: Management of chronic urticaria (CU) is often difficult with oral antihistamines (OAs) despite long-term use. OBJECTIVE: The aim of this study was to determine the extent of medication compliance (MC) and to assess the factors affecting the MC of patients with CU toward OA therapy. METHODS: A 43-item questionnaire was administered to 201 adult patients. A compliance score (CS) of 6 points was chosen as a cutoff point. A CS of 0-6 corresponds to poor compliance and score of 6-9, to good compliance. Subsequently, associations with compliant and poorly compliant groups were made by univariate and multivariate analyses. RESULTS: The median age and disease duration of all patients were 47 years (range: 18-88) and 15 months (range: 1.5-480), respectively. Overall, the rate of compliant and poorly compliant patients was 53.2% and 46.8%, respectively. Educational level and job status were significantly associated with MC. To have graduated from university and high school increased MC by 9.1-fold (p = .002, 95% confidence interval (CI): 2.26-36.37) and 3.6-fold (p = .019, 95% CI: 1.26-13.47), respectively, compared with illiterates. Patients who had worked previously and were currently looking for work were 4.8-fold (p = .032, 95% CI: 1.14-19.97) more compliant than patients who had never worked. CONCLUSION: Most patients with CU had good compliance with OAs. Educational level and job status were significant predictors of MC to OAs in CU. The impact and long-term effects of education and job status should be evaluated in different patient groups.

Evaluation of the Importance of Immunological Profile for Pemphigus Vulgaris in the Light of Necessity to Modify Compensation Theory.

According to the "desmoglein compensation theory," anti-Dsg1 and anti-Dsg3 profiles are crucial for the clinical outcome of pemphigus vulgaris. However, recent studies have highlighted several cases with an incompatibility between the antibody profile and clinical manifestation. Data of 37 patients who had been diagnosed pemphigus vulgaris in our Department between January 2014-June 2016 were retrieved from our clinical database. Patients with ABSIS skin involvement scores, oral mucosa extent and severity scores, anti-Dsg1 and Dsg3 antibody profile were included in this retrospective study. Patients with discordance between clinical manifestations and immunological profile were considered as atypical clinical phenotype. Patients with missing data were excluded. In all 37 patients, Dsg1 and Dsg3 antibody titers at the baseline did not correlate with the concurrent ABSIS scores. At follow up, we detected statistically significant correlations between anti Dsg-1 profile and ABSIS skin involvement scores (p=0.006; r=0.588) and between anti-Dsg3 and ABSIS mucosal extent and severity scores (p=0.058; r=0.431). After treatment, the reduction of Dsg-1 antibody titers was statistically significant in remittent patients (p=0.027). We did not detect statistically significant reduction of Dsg-3 antibodies. Four subjects had incompatible antibody profile and clinical activity. Discordance between phenotype-antibody profile and clinical activity-Dsg titers support the idea that non-Dsg antigens may also be the target for pemphigus autoimmunity.

Long-term results of rituximab-intravenous immunoglobulin combination therapy in patients with epidermolysis bullosa acquisita resistant to conventional therapy.

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a rare subepidermal bullous disease. Long-term remission in this disease is difficult using current treatments, unlike that in patients with other autoimmune bullous diseases. OBJECTIVE: We retrospectively evaluated the effectiveness and side effects of rituximab-intravenous immunoglobulin (IVIg) combination treatment in five patients with EBA resistant to conventional treatment. PATIENTS AND METHODS: Rituximab (375 mg/m2) was administered for four consecutive weeks to four patients, and their treatment continued with IVIg at a dose of 2 g/kg/month. One patient received two cycles of rituximab for three consecutive weeks, IVIg in the fourth week, followed by monthly IVIg administrations as in the other patients. RESULTS: The total number of IVIg therapy cycles ranged from 10 to 26 (mean 19.4). Mean skin involvement, mucosal involvement, and disease severity scores decreased after a mean follow-up of 22.6 months (range, 10-28 months). In an analysis performed during months 24-28, the number of CD19-positive B cells was found to be below the normal reference range in four patients. LIMITATIONS: This was a retrospective study with a limited number of patients. CONCLUSION: Rituximab-IVIg combination treatment seems to be effective and safe for treating patients with EBA resistant to conventional treatments.