ABSTRACT
El síndrome de Osler-Weber-Rendu, o síndrome hereditario hemorrágico telangiectasia, es un trastorno raro de herencia autosómica dominante con una prevalencia estimada de 1:10.000 personas a nivel mundial. Las manifestaciones clínicas de este síndrome son resultado de malformaciones arteriovenosas y varían desde telangiectasias en piel y mucosas hasta afección de órganos sólidos que ponen en peligro la vida, como alteraciones hepáticas, émbolos sistémicos y fallo cardíaco, por lo cual el diagnóstico oportuno es de suma importancia para prevenir las complicaciones de la enfermedad y proporcionar apoyo genético a los familiares. En esta revisión se analiza el cuadro clínico con enfoque principal en las manifestaciones mucocutáneas de la enfermedad y su abordaje terapéutico
Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder with an estimated worldwide prevalence of 1 case per 10,000 population. Its clinical manifestations are the result of arteriovenous malformations characterized by telangiectases that can affect the skin, mucous membranes, and solid organs and cause life-threatening conditions, such as liver disease, systemic emboli, and heart failure. Timely diagnosis is thus essential in order to prevent disease-related complications and offer genetic counseling to families. We review the clinical features of Osler-Weber-Rendu syndrome with a focus on mucocutaneous manifestations and their treatment
Subject(s)
Humans , Telangiectasia, Hereditary Hemorrhagic/epidemiology , Skin Diseases/complications , Telangiectasia, Hereditary Hemorrhagic/physiopathology , Telangiectasis/complications , Epistaxis/complicationsABSTRACT
Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder with an estimated worldwide prevalence of 1 case per 10,000 population. Its clinical manifestations are the result of arteriovenous malformations characterized by telangiectases that can affect the skin, mucous membranes, and solid organs and cause life-threatening conditions, such as liver disease, systemic emboli, and heart failure. Timely diagnosis is thus essential in order to prevent disease-related complications and offer genetic counseling to families. We review the clinical features of Osler-Weber-Rendu syndrome with a focus on mucocutaneous manifestations and their treatment.
Subject(s)
Telangiectasia, Hereditary Hemorrhagic/complications , Arteriovenous Malformations/complications , Epistaxis/etiology , Gastrointestinal Diseases/etiology , Humans , Intracranial Arteriovenous Malformations/etiology , Liver Diseases/etiology , Lung Diseases/etiology , Skin Diseases, Vascular/etiology , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Telangiectasia, Hereditary Hemorrhagic/genetics , Telangiectasia, Hereditary Hemorrhagic/therapyABSTRACT
Calcipotriol is an analogue of vitamin D3 with effect on epidermal keratinization, cellular division and modulation of immune response. An evaluation of its therapeutic effect when given in twenty-five psoriatic patient with less than 25% of their body surface affected was done. The medication was applied twice daily during six weeks on involved areas. The evolution was evaluated by the psoriatic area and severity index (PASI) analysis. The evaluation of initial and terminal PASI analysis revealed a decrease in the psoriatic activity that fluctuated from 25% to 100%, with a 61% average. A reactivation in the psoriatic lesion was noticed two weeks after the medication was halted; thereafter, the calcipotriol was restarted for an additional four weeks and a decrease in their PASI with a 74% average was achieved. There were no important side effects reported. Calcipotriol is effective in the treatment of psoriasis and it is an important addition to the therapeutic medications available to treat psoriasis. It is important to give the treatment for longer periods of time for evaluating the possibility to induce prolonged remissions.
