Dermatologic manifestations of infective endocarditis

Abstract Despite advances in diagnosis and treatment, infective endocarditis still shows considerable morbidity and mortality rates. The dermatological examination in patients with suspected infective endocarditis may prove very useful, as it might reveal suggestive abnormalities of this disease, such as Osler’s nodes and Janeway lesions. Osler’s nodes are painful, purple nodular lesions, usually found on the tips of fingers and toes. Janeway lesions, in turn, are painless erythematous macules that usually affect palms and soles. We report a case of infective endocarditis and highlight the importance of skin examination as a very important element in the presumptive diagnosis of infective endocarditis.

Rendu Osler Weber syndrome, a case report and review

La telangiectasia hemorrágica hereditaria (THH) o síndrome Rendu Osler Weber es un trastorno autosómico dominante que lleva a la formación anormal de vasos sanguíneos y se manifiesta como telangiectasias y malformaciones arteriovenosas en piel y órganos internos. Mujer de 72 años con antecedentes de hipertensión arterial, anemia ferropénica e hipertensión pulmonar en tratamiento. Es derivada a dermatología por la presencia durante años de lesiones asintomáticas en cara y manos. Refiere 4 episodios de epistaxis durante su vida y no tiene historia familiar de patologías dermatológicas. Al examen se observan múltiples máculas eritemato-violáceas, con vitropresión positiva, algunas conformadas por telangiectasias, localizadas en la región malar, frente, lengua y ambas palmas. Se excluyó compromiso hepático, pero se encontraron lesiones vasculares en estómago y duodeno. Con estos antecedentes, se confirmó el diagnóstico de THH. La THH es un diagnóstico clínico basado en los criterios de Curaçao: epistaxis, telangiectasias, lesiones viscerales e historia familiar. Desde el punto de vista dermatológico, se presenta con telangiectasias en palmas, dedos, labios y lengua. Aunque la epistaxis u otras presentaciones pueden ser las manifestaciones más incapacitantes o peligrosas, las telangiectasias extranasales pueden ser más importantes para el paciente, llevándolo a consultar a dermatología. Los dermatólogos deben considerar este síndrome, a pesar de su baja incidencia reportada, debido a sus posibles complicaciones. El tratamiento es sólo paliativo, sin consenso sobre la mejor opción de manejo. Es esencial promover un control a largo plazo de la enfermedad.

Hereditary hemorrhagic telangiectasia (HHT) or Rendu Osler Weber syndrome is an autosomal dominant disorder that leads to abnormal blood vessels formation. It manifests as telangiectasias and arteriovenous malformations in the skin and internal organs. A 72-year-old female patient with previous medical history of hypertension, iron deficiency anemia, and pulmonary hypertension in treatment was referred to our clinic due to the presence of asymptomatic acral lesions. She reported only four epistaxis events throughout her life, and had no family history bleeding. Examination showed multiple, blanching, erythematous-violaceous macules. On the malar region, forehead, tongue and palms, some telangiectasias were grouped. No hepatic lesions were found, however, stomach and duodenum vascular malformations were found after workup; prompting the diagnosis of HHT . HHT diagnosis is made clinically based on the Curaçao criteria: epistaxis, telangiectasias, visceral lesions and family history. From a dermatological point of view, it is presented with telangiectases in palms, fingers, lips and tongue. However, epistaxis or other vascular malformations may be life-threatening. Dermatologists should be aware of the existence of HHT, despite its low reported incidence, due to its frequent cutaneous manifestations and potential complications. Treatment is only palliative, with no consensus on the best management option. It is essential to promote long-term control of the disease.

Rendu-Osler-Weber syndrome: dermatological approach

The Rendu-Osler-Weber syndrome is a rare systemic fibrovascular dysplasia, recognized by mucocutaneous telangiectasias, arteriovenous malformations, epistaxis and family history. Recurrent bleeding, hypoxemia, congestive heart failure, portosystemic encephalopathy, and symptoms related to angiodysplasia of the central nervous system may occur. Since the treatment is based on supportive measures, early recognition is of utmost importance. This article reports the case of a 53-year-old male patient who presented telangiectasias on fingers, oral cavity and nasal mucosa for 10 years, with a history of recurrent epistaxis of varying severity since childhood. Mother, sister and daughter have similar lesions.

Case for diagnosis

The Osler-Weber-Rendu syndrome or Hereditary Hemorrhagic Telangiectasia (HHT) is a systemic fibrovascular dysplasia characterized by defects in the elastic and vascular walls of blood vessels, making them varicose and prone to disruptions. Lesions occur in different organs and can lead to hemorrhage in the lungs, digestive tract and brain. We describe the case of a patient with cutaneous manifestations and severe impairment of the digestive tract. It is important for the dermatologist to recognize this syndrome, since the cutaneous lesions may play a key role in diagnosis.

Syndrome in Question

Rendu-Osler-Weber Syndrome also known as Hereditary Hemorrhagic Telangiectasia is a rare systemic fibrovascular dysplasia, with dominant autosomal inheritance. It is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformation and positive family history. There may be hematologic, neurologic, dermatologic and gastrointestinal complications. Therapy is supportive and aimed at preventing complications. In this article we report a case of Rendu-Osler-Weber in a 64 year-old man, with history of mucocutaneous telangiectasia since the third decade of life, recurrent epistaxis, positive family history and vascular ectasia in the gastrointestinal tract.

Síndrome de Rendu Osler Weber o telangiectasia hemorrágica hereditaria: presentación de un caso y revisión de la literatura / Rendu Osler Weber syndrome or hereditary hemorrhagic telangiectasia: case report and literature review

Paciente femenina de 57 años portadora de Telagiectasia hemorragia hereditaria con antecedentes de padre y dos hermanos portadores de igual patología. Enfermedad genética con transmisión dominante caracterizada por telangiectasias (malformaciones vasculares pequeñas) en la piel y en el revestimiento de las mucosas, epistaxis y malformaciones arteriovenosas en varios órganos internos incluyendo cerebro y pulmones. En 1909, Hanes le da el nombre de HHT. En 1999 se definió los criterios diagnósticos: epistaxis, Telangiectasias, lesiones viscerales, historia familiar. Se han descrito cuatro tipos: HHT1, HHT2, HHT3, poliposis juvenil y HHT4. El TGFâ-1 ha sido más comúmente en su fisiopatología.

Acometimento hepático na telangiectasia hereditária hemorrágica (Osler-Weber-Rendu): relato de caso / Liver involvement in hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu): case report

O acometimento hepático nos pacientes com telangiectasia hereditária hemorrágica ou síndrome de Osler-Weber-Rendu é infreqüente e muitas vezes representa um desafio diagnóstico. Os autores apresentam o caso de uma paciente que procurou atendimento médico por aumento de aminotransferases, história prévia de epistaxe, exame físico e endoscopia digestiva alta evidenciando telangiectasia. A tomografia computadorizada de abdome sugeriu neoplasia primária ou metastática do fígado e a arteriografia demonstrou artéria hepática direita ectásica e neovascularização. Para confirmação do diagnóstico e exclusão de neoplasia foi realizada biópsia hepática, a qual evidenciou vasos anômalos e fibrose no espaço porta, espessamento e ectasia de ramos da artéria hepática e dilatação de sinusóides, achados já descritos nesta síndrome (AU)

Hepatic involvement in patients with hereditary hemorrhagic telangiectasia is infrequent and sometimes represents a diagnostic challenge. The authors present a case of a patient that presents with a elevation of aminotransferases, had history of epistaxis and telangiectases diagnosed by physical examination and upper gastrointestinal endoscopy. The computed tomographic scans suggested primary or metastatic liver neoplasia and angiographic studies showed enlarged right hepatic artery and neovascularization. Liver biopsy demonstrated findings of this syndrome like ectatic vascular structures, fibrosis, enlargement of hepatic artery and sinusoidal dilation. This confirmed diagnoses and exclude neoplasia (AU)

Telangectasia hemorrágica hereditária: relato de caso clínico / Hereditary hemorrhagic telangectasia: repórt of case

Telangectasia Hemorrágica Hereditária, também conhecida como síndrome de Rendu-Osler-Weber, é uma alteração caracterizada por uma displasia fibrovascular associada com a presença de telangectasias e malformações arteriovenosas. Acomete preferencialmente a pele, mucosas, pulmão e cérebro. No passado, era considerada uma doença rara, sem grandes conseqüências na vida dos indivíduos afetados. Entretanto, nos dias atuais, é reconhecida como uma entidade não tão incomum, e quando envolve o cérebro e os pulmões, está associada a altas taxas de mortalidade e morbidade destes pacientes. O objetivo deste estudo foi relatar um caso de telangectasia hemorrágica hereditária no qual a suspeita do diagnóstico foi feita pela detecção de telangectasias intrabucais

Telangiectasia hemorragica hereditaria: asociaciada a fístula arteriovenosa pulmonar y absceso cerebral con drenaje espontáneo a ventrículo; reporte de un caso / Heritary hemorrhagic telangictasia associated to pulonary arteriovenous fistula and cerebral abscess with spontaneous drainage to ventricle

La Telangiectasia Hemorrágica Hereditaria (THH), es una enfermedad poco frecuente, estimada en 1 a 2 casos por 100.000 habitantes. Alrededor de 15 a 25% de los pacientes con THH, presentan Fístulas Arterio-Venosas Pulmonares (FAVP). Los abscesos cerebrales pueden desarrollarse en un estimado del 6% de pacientes con FAVP. En la literatura sólo se recogen alrededor de 50 casos comparables de Absceso Cerecral como complicaciones de THH por vías de FAVP. El drenaje de un abseso cerebral a ventrículo es una entidad fatal con altísima mortalidad, mayor del 98%. El caso que se reporta corresponde a un paciente adulto ingresado por cuadro clínico y de laboratorio sugestivo de Meningitis Bacteriana en el área de emergencia. Cuando es trasladado a hospitalización se evidencia historia de epistaxis ocasionales: al examen físico; neurológico conservado, evidenciándose únicamente trastornos en el área cognoscitiva numérica discreta (en un paciente de profesión contador) y bradipsiquia; telangiectasias en rostro y labio inferior, soplo cardíaco holosistólico que se extendía en banda a toda la circunferencia torácica a nivel del sexto espacio intercostal. En vista de su evolución se realiza TAC de cráneo que revela: absceso Cerebral Parieto Temporal Izquierdo. Resonancia Magnetica Nuclear hace evidente la VIA DE DRENAJE desde el absceso hasta el ventrículo lateral izquierdo, además de malformaciones vasculares pontocerebelosas bilaterales. Rx de tórax, TAC de tórax y Arteriografía, revelaron Fístula Arteriovenosa pulmonar. Esta suma de eventos de THH, FAVP y absceso Cerebral con drenaje a ventrículo que no compromete la vida del paciente, no se encontró reportado previamente en la literatura. Actualmente el paciente presenta escasas secuelas neurológicas posteriores a resolución quirúrgica del absceso. Reingresó 3 meses después por edema cerebral importante. La FAVP fue resuelta quirúrgicamente

Hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (Osler-Rendu-Weber syndrome) is an autosomal dominant vascular disorder, manifesting with telangiectases and bleeding in different parts of the body. We report a patient who presented with bleeding from various sites.