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.
Subject(s)
Epidermolysis Bullosa Simplex/pathology , Skin/pathology , Diagnosis, Differential , Epidermolysis Bullosa Simplex/diagnosis , Epidermolysis Bullosa Simplex/genetics , Female , Fluorescent Antibody Technique , Humans , Infant, Newborn , Keratin-14/genetics , Skin/ultrastructureSubject(s)
AIDS-Related Opportunistic Infections/drug therapy , AIDS-Related Opportunistic Infections/virology , Cytosine/analogs & derivatives , Epidermodysplasia Verruciformis/drug therapy , Organophosphonates/therapeutic use , Papillomaviridae/classification , Papillomavirus Infections/drug therapy , AIDS-Related Opportunistic Infections/diagnosis , Administration, Topical , Adult , Antiviral Agents/therapeutic use , Cidofovir , Cytosine/therapeutic use , Dose-Response Relationship, Drug , Drug Administration Schedule , Epidermodysplasia Verruciformis/diagnosis , Follow-Up Studies , Humans , Male , Middle Aged , Papillomaviridae/isolation & purification , Papillomavirus Infections/diagnosis , Sampling Studies , Severity of Illness Index , Treatment OutcomeSubject(s)
Dermoscopy , Factor V/genetics , Malignant Atrophic Papulosis/diagnosis , Malignant Atrophic Papulosis/genetics , Thrombocytosis/diagnosis , Anti-Inflammatory Agents/therapeutic use , Aspirin/therapeutic use , Chloroquine/therapeutic use , Female , Humans , Malignant Atrophic Papulosis/drug therapy , Middle Aged , Mutation , Prednisone/therapeutic use , Thrombocytosis/drug therapy , Thrombocytosis/genetics , Treatment OutcomeSubject(s)
Mutation , Porphyria Cutanea Tarda/genetics , Porphyria, Hepatoerythropoietic/genetics , Uroporphyrinogen Decarboxylase/genetics , Adult , Erythrocytes/enzymology , Female , Humans , Male , Middle Aged , Porphyria Cutanea Tarda/complications , Porphyria, Hepatoerythropoietic/complications , Uroporphyrinogen Decarboxylase/bloodABSTRACT
Los laboratorios de inmunología clínica tienen un papel fundamental en el proceso diagnóstico de las enfermedades autoinmunes del tejido conectivo.Algunos autoanticuerpos se consideran específicos de una determinada entidad y se utilizan como marcadores de la misma. Además, algunos de estos autoanticuerpos estan asociados con síndromes clínicos específicos o subgrupos de la enfermedad, siendo útiles en la evaluación del compromiso orgánico y en la predicción de su pronóstico. En este artículo se realiza una revisión de la utilidad clínica de los autoanticuerpos descritos en las enfermedades autoinmunes que tienen con frecuencia repercusión cutánea (AU)
Clinical immunology laboratories have an essential role in diagnosing autoimmune connective tissue diseases. Certain autoantibodies are considered specific for particular diagnoses and have been used as disease markers. Moreover, some of these autoantibodies are associated with specific clinical symptoms or subsets of disease and are useful in monitoring the involvement of certain organs and predicting outcome. In this article we review the clinical utility of autoantibodies described in autoimmune diseases that have often an impact on the skin (AU)
Subject(s)
Humans , Autoimmune Diseases/immunology , Antibodies/isolation & purification , Connective Tissue Diseases/immunology , Lupus Erythematosus, Systemic/immunology , Scleroderma, Systemic/immunology , Dermatomyositis/immunology , Histones/immunology , Antigens, Nuclear/immunology , Collagen Type VII/immunologyABSTRACT
Porphyria cutanea tarda is the most frequent porphyria and occurs in both sporadic and familial forms. We conducted the current study in a series of 152 consecutive patients with porphyria cutanea tarda attending the Porphyria Unit of the Hospital Clinic of Barcelona, Spain, to update the clinical manifestations of the disease and to study the sex differences, the proportion of familial forms, and the role of different risk factors in this population. Patients were classified as familial and sporadic cases according to erythrocyte uroporphyrinogen-decarboxylase activity and uroporphyrinogen-decarboxylase genotyping. In our cohort, skin fragility and blisters on the hands were the most frequent clinical manifestations. Women more frequently had facial hypertrichosis (84.8%; p = 0.004), affected areas other than the hands and face (33.3%; p = 0.008), and pruritus (27.3%; p = 0.041) compared with men. Of our patients, 11.8% did not present the typical clinical onset of the disease, with facial hypertrichosis and hyperpigmentation the more frequent complaints in these cases. Analysis of risk factors showed a high prevalence of hepatitis C virus infection (65.8%) and alcohol abuse (59.9%), both being more frequent in men (p < 0.001). Hepatitis C virus infection was the only risk factor that showed differences between the sporadic and familial forms in the logistic regression model (odds ratio, 0.05; 95% confidence interval, 0.006-0.46). In conclusion, atypical forms of presentation of porphyria cutanea tarda should be considered in order to prevent delayed diagnosis. We note the sustained role of hepatitis C virus infection in the precipitation of sporadic porphyria cutanea tarda. Therefore, in countries with a high prevalence of hepatitis C virus infection, the absence of such infection in a patient with porphyria cutanea tarda may suggest a possible familial case.