[Show abstract][Hide abstract] ABSTRACT: IMPORTANCE Variability in genes encoding proteins involved in the immunological pathways of biological therapy may account for the differences observed in outcomes of anti-tumor necrosis factor (TNF) treatment of psoriasis. OBJECTIVE To assess the role of 2 Fcγ receptor (FcγR) polymorphisms in the response to anti-TNF therapy in psoriasis. DESIGN Retrospective series of patients with psoriasis who received anti-TNF therapy (infliximab, adalimumab, or etanercept) from January 1, 2007, through December 31, 2010. Patients were followed up for 12 weeks. SETTING Two psoriasis referral centers. PARTICIPANTS Seventy treatment-naive patients with moderate to severe psoriasis who received anti-TNF agents. INTERVENTION Patients underwent FcγRIIA-H131R and FcγRIIIA-V158F polymorphism genotyping. MAIN OUTCOMES AND MEASURES The Psoriasis Area and Severity Index and the body surface area were assessed at baseline and at treatment weeks 6 to 8 and 12. The polymorphism genotypes were correlated with the treatment outcomes. RESULTS Bivariate analysis showed a nonsignificant association between FcγR low-affinity genotypes and greater improvement in the Psoriasis Area and Severity Index and body surface area at the end of treatment. Conversely, patients harboring high-affinity alleles presented a greater reduction in body surface area at the intermediate point, which remained independent in the multivariate analysis. We also detected an additive effect of both polymorphisms in the multivariate analysis. High-affinity alleles may contribute to a quicker response owing to a more efficient removal of relevant cells expressing TNF. CONCLUSIONS AND RELEVANCE Preliminary results of this pilot study on the pharmacogenetics of FcγR and biological therapy in psoriasis suggest a role with clinical implications for FcγRIIA-H131R and FcγRIIIA-V158F polymorphisms in the outcome of anti-TNF treatment of psoriasis. These results might help dermatologists in guiding therapeutic decisions, especially in very severe cases where a quick response is needed.
[Show abstract][Hide abstract] ABSTRACT: Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain.
To determine the prevalence of DEB in Spain.
We used data from 3 incomplete population-based sources (hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA]) and combined them using the 3-source capture-recapture methodology.
We identified 152 living DEB patients. The estimated prevalence of DEB was 6.0 cases per million (95% CI, 4.2-11.8) in adults and 15.3 (95% CI, 10.4-40.8) in children under 18 years of age. The data indicated that 77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA.
The prevalence of DEB in Spain is 6.0 patients per million (95% CI, 4.2-11.8), a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The north-south difference may represent real geographic differences in prevalence, but it might be due to the fact that most of the data come from registries with a lower than expected catchment. Many patients are not being followed up in centers of reference, do not have genetic diagnosis, and are not members of patients' associations, suggesting that there is room for considerable improvement in their care.
[Show abstract][Hide abstract] ABSTRACT: Background Prognosis of patients with bullous pemphigoid (BP) is controversial, with a 1-year mortality rate ranging from 6% to 48%. Objective To determine the mortality rate of a large cohort of patients with BP and to identify prognostic factors associated with early mortality. Methods Patients diagnosed with BP between January 1, 1990 and December 31, 2010 in a referral unit for blistering skin diseases at a university hospital in Spain were studied retrospectively. Outcome measures were mortality rate during the first year after diagnosis, standardized mortality rate and poor prognostic factors. Results A total of 101 patients were included in the study. The mean patient age at diagnosis was 77.8 years, and 52 (51.5%) were men. Overall mortality during the first year was 12.9%. We found a standardized mortality ratio of 2.33 [CI(95 ) =( ) (1.25-4.03)]. Advanced age (patient group >80 years old) was the only risk factor for lethal outcome found, with a multivariate risk estimate of 1.09 [CI(95 ) =( ) (1.02-1.16)]. No significant association with mortality was detected for comorbidities, hospitalization history or treatment received for BP. Conclusions We found an increased mortality of our BP patients compared with the general population. The mortality rate of BP patients was 2.3 times the expected rate. Observed mortality rate was lower than described in previous European studies. Advanced age impacts the prognosis of patients with BP. Specific treatment for BP appeared not to influence survival.
Journal of the European Academy of Dermatology and Venereology 12/2012; 28(4). DOI:10.1111/jdv.12065 · 2.83 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Epidermolysis bullosa simplex with mottled hyperpigmentation (EBS-MP) is an uncommon subtype of EBS. Its clinical features depend on the age of diagnosis, and clinical variations have been described even within family members. We present six cases from two unrelated Spanish families each with several affected members with EBS-MP and review the clinical and genetic findings in all reported patients. We highlight the changing clinical features of the disease throughout life.
[Show abstract][Hide abstract] ABSTRACT: Our scientific knowledge of bullous pemphigoid (BP) has dramatically progressed in recent years. However, despite the availability of various therapeutic options for the treatment of inflammatory diseases, only a few multicenter controlled trials have helped to define effective therapies in BP. A major obstacle in sharing multicenter-based evidences for therapeutic efforts is the lack of generally accepted definitions for the clinical evaluation of patients with BP. Common terms and end points of BP are needed so that experts in the field can accurately measure and assess disease extent, activity, severity, and therapeutic response, and thus facilitate and advance clinical trials. These recommendations from the International Pemphigoid Committee represent 2 years of collaborative efforts to attain mutually acceptable common definitions for BP and proposes a disease extent score, the BP Disease Area Index. These items should assist in the development of consistent reporting of outcomes in future BP reports and studies.
Journal of the American Academy of Dermatology 11/2011; 66(3):479-85. DOI:10.1016/j.jaad.2011.06.032 · 4.45 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Background and objectivesDermatitis herpetiformis is a chronic bullous disease that is currently considered a cutaneous expression of gluten hypersensitivity. The aim of this study was to analyze and describe the clinical, histological, and immunopathological characteristics of patients with dermatitis herpetiformis assessed at Hospital Clinic de Barcelona, Spain between 1995 and 2010.
[Show abstract][Hide abstract] ABSTRACT: Autoimmune blistering diseases (AIBD) are relatively uncommon all over the world. Therefore most physicians and even dermatologists are generally unfamiliar with their diagnosis and treatment. In Spain there are very few dermatologists and dermatology clinics specialized in AIBD. This article provides an overview of the management of AIBD in Spain at the present time.
[Show abstract][Hide abstract] ABSTRACT: Epidermolysis bullosa (EB) is a heterogeneous group of inherited skin disorders characterized by blistering and skin fragility secondary to mechanical trauma. Epidermolysis bullosa simplex (EBS) is the most frequent form of EB, with Dowling-Meara (DM-EBS) subtype being the most severe form in this group. Conventional histopathological evaluation is usually of low value in the diagnosis of EB, and significant histological features have rarely been reported in this group of diseases. We describe a case of severe DM-EBS in which acantholysis was observed in the histological examination. This finding led us to consider other diagnoses, such as neonatal pemphigus vulgaris or lethal acantholytic EB. Histological, immunological, ultrastructural and genetic tests were performed, leading to a final diagnosis of DM-EBS. Therefore, we believe that DM-EBS should be considered in the differential diagnosis of a newborn with blisters, where acantholysis is the main histological feature.
European journal of dermatology: EJD 08/2011; 21(6):966-71. DOI:10.1684/ejd.2011.1497 · 1.99 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Dermatitis herpetiformis is a chronic bullous disease that is currently considered a cutaneous expression of gluten hypersensitivity. The aim of this study was to analyze and describe the clinical, histological, and immunopathological characteristics of patients with dermatitis herpetiformis assessed at Hospital Clinic de Barcelona, Spain between 1995 and 2010.
Demographic, clinical, serologic, and histopathological data were reviewed for 33 patients with dermatitis herpetiformis.
The median age of the patients at the time of disease onset was 30 years and the majority were men. Associated autoimmune disease was present in 49% of patients. In 6 patients, celiac disease was diagnosed before dermatitis herpetiformis. Although excoriations were the most predominant lesions, 9 patients had blisters. Histological findings in skin lesions were compatible with dermatitis herpetiformis in 46% of cases. The most frequently observed staining pattern by indirect immunofluorescence was the presence of granular immunoglobulin A deposits in the basement membrane (62%). More than 80% of intestinal biopsies were compatible with celiac disease. Antibodies linked to gluten sensitivity were observed in 79% of patients. Only 1 malignant tumor was detected.
Notable findings were the frequent presence of bullous lesions, the high prevalence of celiac disease, and the positive findings on intestinal biopsy, all of which are suggestive of late diagnosis. Our findings confirm the lack of specificity of conventional histology in dermatitis herpetiformis and the association of the disease with other immunological disorders.