Subject(s)
Humans , Male , Adult , Glaucoma/diagnostic imaging , Glaucoma/surgery , Trabeculectomy , Helsinki Declaration , Inpatients , Physical Examination , Ophthalmology , Eye InjuriesABSTRACT
OBJETIVO: Describir una técnica rápida para medir el ángulo papila-fóvea (APF), determinar sus valores normales y su relevancia a la hora de analizar retinografías apareadas. MÉTODOS: En 20 sujetos se realizaron 440 retinografías (3 D OCT-2000, Topcon Corporation, Tokio, Japón) en 11 posiciones diferentes de la cabeza (cervical range of motion [CROM], Performance Attainment Associates). Se analizó el APF mediante el programa Keynote v.6.2.2 y se estudió la reproducibilidad y correlación entre los retinógrafos 3 D OCT-2000 y TRC-50EX (Topcon Corporation, Tokio, Japón). RESULTADOS: La media del APF en el ojo derecho (OD) y en el ojo izquierdo (OI) fue de 5,5 ± 3,4° y de 8,6 ± 2,9°, con una diferencia de 3,1° (p = 0,001 test del signo-rango de Wilcoxon). La media de la diferencia absoluta del APF entre ambos ojos fue de 3,5 ± 2,6°; aumentando con la inclinación cefálica en el plano frontal (p = 0,000 test del signo-rango de Wilcoxon). La media de la suma del APF de ambos ojos fue de 14,1 ± 5,4°. La media de la torsión ocular compensatoria (TOC) con la cabeza inclinada 20 y 40° a la derecha fue de 7,1 y 12,2° en el OD y de 7,7 y 12,1° en el OI. Con la cabeza inclinada 20 y 40° a la izquierda, la media fue de 4,4 y 8° en el OD y de 4,2 y 8,7° en el OI (p = 0,000 test del signo-rango de Wilcoxon). Los retinógrafos mostraron alta correlación y reproducibilidad. CONCLUSIÓN: Nuestra técnica es rápida y reproducible. El OI muestra mayor APF que el OD. La TOC solo ocurre en el plano frontal. Estos aspectos son relevantes al analizar retinografías apareadas
PURPOSE: Describe a time-sparing technique to measure disc-foveal angle (DFA), determine normal values and its role when analyzing paired fundus photographs. METHODS: DFA was analysed using the software program Keynote v.6.2.2 on 440 fundus photographs (3 D OCT 2000, Topcon Corporation, Tokio, Japan) of 20 individuals. The 11 different head positions were determined with the cervical range of motion device (CROM, Performance Attainment Associates). A reproducibility and correlation study between two fundus cameras (OCT 3 D-2000 and TRC-50EX, Topcon Corporation, Tokio, Japan) was performed. RESULTS: Mean DFA of the right and left eye was 5.5 ± 3.4° and 8.6 ± 2.9°, with a difference of 3.1° (P = 0.001 Wilcoxon signed-rank test) in the upright head position. Mean absolute difference in DFA between eyes was 3.5 ± 2.6°; an increase was seen with increasing head tilt (p = 0.000 Wilcoxon signed-rank test). Mean sum of DFA in both eyes was 14.1 ± 5.4°. On head-tilt of 20° and 40° to the right, mean ocular counterrolling (OCR) was 7.1° and 12.2° in the right eye and 7.7° and 12.1° in the left eye. On head-tilt of 20° and 40° to the left, OCR was 4.4° and 8° in the right eye and 4.2° and 8.7° in the left eye (P = 0.000 Wilcoxon signed-rank test). The two cameras showed strong correlation and high reproducibility. CONCLUSIONS: Our DFA measurement technique is time-sparing and reproducible. Left eye shows higher DFA than right eye. OCR occurs only in the roll plane. This information is of value when analyzing paired fundus photographs
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Fovea Centralis/diagnostic imaging , Optic Disk/diagnostic imaging , Cross-Sectional Studies , Eye Movements/physiology , Fovea Centralis/anatomy & histology , Fundus Oculi , Head , Head Movements/physiology , Optic Disk/anatomy & histology , Posture/physiology , Reproducibility of ResultsABSTRACT
PURPOSE: Describe a time-sparing technique to measure disc-foveal angle (DFA), determine normal values and its role when analyzing paired fundus photographs. METHODS: DFA was analysed using the software program Keynote v.6.2.2 on 440 fundus photographs (3D OCT 2000, Topcon Corporation, Tokio, Japan) of 20 individuals. The 11 different head positions were determined with the cervical range of motion device (CROM, Performance Attainment Associates). A reproducibility and correlation study between two fundus cameras (OCT 3D-2000 and TRC-50EX, Topcon Corporation, Tokio, Japan) was performed. RESULTS: Mean DFA of the right and left eye was 5.5±3.4° and 8.6±2.9°, with a difference of 3.1° (P=0.001 Wilcoxon signed-rank test) in the upright head position. Mean absolute difference in DFA between eyes was 3.5±2.6°; an increase was seen with increasing head tilt (P=0.000 Wilcoxon signed-rank test). Mean sum of DFA in both eyes was 14.1±5.4°. On head-tilt of 20° and 40° to the right, mean ocular counterrolling (OCR) was 7.1° and 12.2° in the right eye and 7.7° and 12.1° in the left eye. On head-tilt of 20° and 40° to the left, OCR was 4.4° and 8° in the right eye and 4.2° and 8.7° in the left eye (P=0.000 Wilcoxon signed-rank test). The two cameras showed strong correlation and high reproducibility. CONCLUSIONS: Our DFA measurement technique is time-sparing and reproducible. Left eye shows higher DFA than right eye. OCR occurs only in the roll plane. This information is of value when analyzing paired fundus photographs.
Subject(s)
Fovea Centralis/diagnostic imaging , Optic Disk/diagnostic imaging , Adult , Cross-Sectional Studies , Eye Movements/physiology , Female , Fovea Centralis/anatomy & histology , Fundus Oculi , Head , Head Movements/physiology , Humans , Male , Middle Aged , Optic Disk/anatomy & histology , Posture/physiology , Reproducibility of ResultsSubject(s)
Blister/pathology , Pemphigoid, Bullous/pathology , Urticaria/pathology , Vaccination/adverse effects , Anti-Infective Agents/therapeutic use , Autoantibodies/immunology , Blister/diagnosis , Dapsone/administration & dosage , Dapsone/therapeutic use , Humans , Infant , Male , Pemphigoid, Bullous/diagnosis , Pemphigoid, Bullous/drug therapy , Pemphigoid, Bullous/immunology , Skin Diseases, Vesiculobullous/pathology , Treatment Outcome , Urticaria/diagnosisSubject(s)
Psoriasis/genetics , Toll-Like Receptor 3/genetics , Toll-Like Receptor 7/genetics , Toll-Like Receptor 9/genetics , Adult , Age of Onset , Aged , Case-Control Studies , Female , Follow-Up Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Polymorphism, Single Nucleotide , Psoriasis/diagnosis , Risk Factors , Severity of Illness IndexABSTRACT
PURPOSE OF THE STUDY: To analyze the epidemiologic, demographic, clinical, and histological characteristics of primary scarring alopecia (PSA) cases diagnosed over a 7-year period at the Department of Dermatology, Hospital Clinic, Barcelona, Spain. PROCEDURES: Seventy-two patients diagnosed with PSA between 2006 and 2012 were included. Age, sex, ethnic group, clinical pattern, predominant histological infiltrate, final clinical diagnosis, time of onset, treatments used, and clinical evolution were evaluated and correlated. RESULTS: The ethnic groups were distributed as follows: 93% European-Caucasian, 5% Mestizo-American, 1% oriental, and 1% Afro-American. Most cases were females (71%), and mean age was 51 ± 6 years. The follicular pattern was the most common, and the predominant inflammatory infiltrate was lymphocytic. Lichen planopilaris and frontal fibrosing alopecia were the main diagnoses. When correlating clinical aspects and histopathology, lymphocytic PSAs had a subacute onset and resulted in a nonchanging, more stable form, while neutrophilic PSAs had a more acute onset with an evolution of acute outbreaks. PSAs in a late stage with an absent/mild infiltrate had a subclinical onset and a slowly progressive or stable evolution. CONCLUSIONS: The PSAs are severe trichological conditions. Their high clinical and histopathological variability make them a diagnostic and therapeutic challenge. MESSAGE OF THE PAPER: Knowing the clinical and histopathological aspects of PSAs should be of crucial importance to the dermatologist.
ABSTRACT
Anti-p200 pemphigoid is a rare autoimmune subepidermal blistering disease characterized by the presence of circulating immunoglobulin G antibodies directed against laminin gamma-1, a 200-kDa protein located in the lamina lucida of the basement membrane. We review the clinical, histopathological and immunological characteristics of the first 2 cases described in Spain. Anti-p200 pemphigoid shares histopathological and immunopathological findings with epidermolysis bullosa acquisita, the main entity in the differential diagnosis. However, its management follows the same guidelines as those used for bullous pemphigoid. The diagnosis is confirmed by immunoblotting, which is a complex technique available in few centers. We propose the immunohistochemical detection of collagen type IV on the floor of the blister, combined with standard immunofluorescence techniques, as a simple, accessible alternative to differentiate anti-p200 pemphigoid from epidermolysis bullosa acquisita.
Subject(s)
Autoantibodies/analysis , Autoantigens/immunology , Autoimmune Diseases/diagnosis , Collagen Type IV/analysis , Immunoglobulin G/analysis , Laminin/immunology , Pemphigoid, Bullous/diagnosis , Staining and Labeling/methods , Adult , Autoimmune Diseases/metabolism , Blister/diagnosis , Blister/metabolism , Complement C3/analysis , Dapsone/therapeutic use , Diagnosis, Differential , Epidermolysis Bullosa Acquisita/diagnosis , Epidermolysis Bullosa Acquisita/metabolism , Fluorescent Antibody Technique, Direct , Fluorescent Antibody Technique, Indirect , Giant Cell Arteritis/complications , Giant Cell Arteritis/drug therapy , Humans , Immunoblotting , Immunosuppressive Agents/adverse effects , Immunosuppressive Agents/therapeutic use , Male , Middle Aged , Molecular Weight , Pemphigoid, Bullous/immunology , Pemphigoid, Bullous/metabolism , Prednisone/adverse effects , Prednisone/therapeutic use , Skin Diseases, Vesiculobullous/diagnosis , Skin Diseases, Vesiculobullous/metabolismABSTRACT
BACKGROUND: Epidermolysis bullosa acquisita is an exceedingly rare subepidermal blistering disease caused by antibodies against type VII collagen. Studies summarizing the clinical and immunological features of this disease in large series of patients are scarce. OBJECTIVES: To analyse the clinical and immunopathological characteristics, treatment responses and outcomes of 12 patients with epidermolysis bullosa acquisita from four tertiary hospitals in Spain. METHODS: An extensive retrospective review of clinical charts. RESULTS: The mean age of onset was 48 years and the mean delay to diagnosis was 20·75 months. The classical phenotype occurred in 42% of cases, inflammatory in 42% and mixed in 17%. Mucosal involvement was present in 75%. Linear IgG deposition along the basement membrane zone was consistently present on direct immunofluorescence examination. Indirect immunofluorescence study was positive in 67% of the cases. Frequently associated diseases were neoplasms (25%), inflammatory bowel disease (25%), hepatitis C virus infection (17%) and thyroid dysfunction (17%). Therapeutic responses were variable. CONCLUSIONS: The prevalence of neoplasms was similar to that seen in inflammatory bowel disease. Multicentric prospective studies including larger numbers of patients are required for a better knowledge and management of this disease.
Subject(s)
Epidermolysis Bullosa Acquisita/diagnosis , Adult , Age of Onset , Aged , Aged, 80 and over , Antibodies, Antinuclear/metabolism , Delayed Diagnosis , Dermatologic Agents/therapeutic use , Epidermolysis Bullosa Acquisita/drug therapy , Female , Hospitalization , Humans , Immunohistochemistry , Male , Middle Aged , Retrospective Studies , Spain , Tertiary Care Centers , Treatment Outcome , Young AdultABSTRACT
Bullous pemphigoid (BP) is an autoimmune subepidermal bullous disease in which autoantibodies are directed against components of the basement membrane. Most of these antibodies belong to the immunoglobulin G class and bind principally to 2 hemidesmosomal proteins: the 180-kD antigen (BP180) and the 230-kD antigen (BP230). It is the most common blistering disease in the adult population in developed countries, with an estimated incidence in Spain of 0.2 to 3 cases per 100,000 inhabitants per year. The disease primarily affects older people, although it can also occur in young people and even in children. In recent years, advances in clinical practice have led to a better understanding and improved management of this disorder. These advances include new diagnostic techniques, such as enzyme-linked immunosorbent assay for BP180 and new drugs for the treatment of BP, with diverse therapeutic targets. There is, however, still no international consensus on guidelines for the management of BP. This article is an updated review of the scientific literature on the treatment of BP. It focuses primarily on evidence-based recommendations and is written from a practical standpoint based on experience in the routine management of this disease.
Subject(s)
Pemphigoid, Bullous/diagnosis , Pemphigoid, Bullous/therapy , Algorithms , Humans , Practice Guidelines as TopicABSTRACT
Introducción: La epidermólisis ampollosa adquirida es una enfermedad ampollosa subepidérmica autoinmune causada por autoanticuerpos contra el colágeno VII. Su clínica es heterogénea con afectación de la piel y las mucosas, pudiendo generar secuelas invalidantes. Existen diversas opciones terapéuticas frecuentemente insatisfactorias. Objetivo: Revisar los casos de epidermólisis ampollosa adquirida diagnosticados durante un periodo de 26 años. Material y métodos: Estudio retrospectivo de las características clínicas e inmunopatológicas de 9 pacientes con dicho diagnóstico. Resultados: La mediana de edad de presentación fue de 37 años, el 66,67% de pacientes fueron mujeres. Asociaciones: neoplasias malignas, enfermedad inflamatoria intestinal y procesos autoinmunes. La variante inflamatoria fue la más frecuente (6/9). La histología mostró constantemente una ampolla subepidérmica y la inmunofluorescencia directa la presencia de depósitos lineales de IgG y C3 en la membrana basal. La inmunofluorescencia indirecta fue positiva en 6 pacientes, mostrando en todos ellos un patrón dérmico en piel separada. En 5 pacientes se determinaron los anticuerpos contra el colágeno vii por Enzyme-Linked Immuno Sorbent Assay, de los cuales 2 fueron positivos, e Inmunoblot con NC1 recombinante en 6 casos, positivo en todos ellos. La respuesta terapéutica fue variable. Conclusiones: Se trata de una enfermedad rara, de clínica heterogénea, que puede inducir a confusión con otras enfermedades ampollosas subepidérmicas. Se requiere un alto índice de sospecha y el empleo de todos los métodos disponibles para establecer su diagnóstico. La correcta evaluación de la afectación cutáneo-mucosa y la instauración precoz de la terapéutica adecuada permitirá la detección de sus secuelas y de las complicaciones del tratamiento (AU)
Background: Epidermolysis bullosa acquisita (EBA) is an autoimmune subepidermal blistering disease caused by autoantibodies to type VII collagen. The clinical presentation is variable, with skin and mucosal lesions that can cause significant dysfunction. Different treatment options exist, but the results are often unsatisfactory. Objective: To review all the cases of epidermolysis bullosa acquisita (EBA) diagnosed at our hospital over a 26-year period. Materials and methods: We performed a retrospective review of the clinical, histologic, and immunologic features of EBA in 9 patients. Results: Mean age at presentation was 37 years and 66.67% of the patients were women. EBA occurred in association with malignant tumors, inflammatory bowel disease, and autoimmune disorders. The most common variant was inflammatory EBA (6 of the 9 cases). In all 9 patients, histology revealed a subepidermal blister and direct immunofluorescence showed linear deposits of immunoglobulin G and C3 in the basement membrane zone. Indirect immunofluorescence performed on salt-split skin substrate was positive in 6 patients and showed a dermal pattern in all cases. Five patients were tested for autoantibodies to type VII collagen using enzyme-linked immunosorbent assay, with positive results in 2 cases. Immunoblotting using recombinant noncollagenous domains (NC1) of type VII collagen was positive in all 6 cases in which it was performed. Response to treatment was variable. Conclusions: EBA is a rare disease with a variable clinical presentation that can be confused with that of other subepidermal blistering diseases. Correct diagnosis requires a high level of clinical suspicion and the use of all available diagnostic tests. Thorough evaluation of cutaneous and mucosal involvement and prompt initiation of appropriate treatment will ensure the detection and prevention of dysfunction and treatment-related complications (AU)
Subject(s)
Humans , Epidermolysis Bullosa Acquisita/epidemiology , Autoimmunity/immunology , Retrospective Studies , Risk Factors , Age and Sex Distribution , Collagen Diseases/epidemiologyABSTRACT
INTRODUCTION: Epidermolysis bullosa acquisita (EBA) is an autoimmune subepidermal blistering disease caused by autoantibodies to type VII collagen. The clinical presentation is variable, with skin and mucosal lesions that can cause significant dysfunction. Different treatment options exist, but the results are often unsatisfactory. OBJECTIVE: To review all the cases of epidermolysis bullosa acquisita (EBA) diagnosed at our hospital over a 26-year period. MATERIALS AND METHODS: We performed a retrospective review of the clinical, histologic, and immunologic features of EBA in 9 patients. RESULTS: Mean age at presentation was 37 years and 66.67% of the patients were women. EBA occurred in association with malignant tumors, inflammatory bowel disease, and autoimmune disorders. The most common variant was inflammatory EBA (6 of the 9 cases). In all 9 patients, histology revealed a subepidermal blister and direct immunofluorescence showed linear deposits of immunoglobulin G and C3 in the basement membrane zone. Indirect immunofluorescence performed on salt-split skin substrate was positive in 6 patients and showed a dermal pattern in all cases. Five patients were tested for autoantibodies to type VII collagen using enzyme-linked immunosorbent assay, with positive results in 2 cases. Immunoblotting using recombinant noncollagenous domains (NC1) of type VII collagen was positive in all 6 cases in which it was performed. Response to treatment was variable. CONCLUSIONS: EBA is a rare disease with a variable clinical presentation that can be confused with that of other subepidermal blistering diseases. Correct diagnosis requires a high level of clinical suspicion and the use of all available diagnostic tests. Thorough evaluation of cutaneous and mucosal involvement and prompt initiation of appropriate treatment will ensure the detection and prevention of dysfunction and treatment-related complications.
Subject(s)
Epidermolysis Bullosa Acquisita/diagnosis , Epidermolysis Bullosa Acquisita/immunology , Adult , Aged , Epidermolysis Bullosa Acquisita/pathology , Female , Humans , Male , Middle Aged , Retrospective Studies , Young AdultABSTRACT
X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated.
Subject(s)
Collagen Type VII/genetics , Epidermolysis Bullosa Dystrophica/genetics , Ichthyosis, X-Linked/genetics , Steryl-Sulfatase/genetics , Child , Comorbidity , Humans , Male , Point Mutation , Sequence DeletionABSTRACT
Amicrobial pustulosis of the folds is a rare disorder characterized by a recurrent sterile pustular rash mainly affecting the skinfolds, scalp, and periorificial regions such as around the external auditory meatus. Few cases have been reported in the literature, most of them occurring women and all of them associated with some immunological disorder, the most common being lupus erythematosus. We present a new case of amicrobial pustulosis of the folds in a woman; the only immunologic abnormality detected was an elevation of immunoglobulin E. We have also reviewed the 35 cases reported in the literature.
Subject(s)
Skin Diseases, Vesiculobullous/pathology , Adult , Female , HumansABSTRACT
Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and retroauricular area. Histology was compatible with fibrofolliculoma and genetic study showed a pathogenic mutation of the folliculin gene.