A Case Report of Hereditary Hemorrhagic Telangiectasia Diagnosed in a Podiatric Medical Patient

2017 ◽  
Vol 107 (2) ◽  
pp. 155-157
Author(s):  
Kunal Amin ◽  
Douglas Mckay
Keyword(s):  
Case Report ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Case Reports ◽  
Lower Extremities ◽  
Medical Patient ◽  
Cutaneous Manifestations ◽  
Almost All ◽  
Work Up

Hereditary hemorrhagic telangiectasia (HHT), which is also known as Osler-Weber-Rendu syndrome, is a group of related disorders characterized by the development of arteriovenous malformations. These malformations occur in almost all organs but predominantly in the skin, intestines, liver, lungs, and brain. This is a case report of a patient with cutaneous manifestations of HHT in the lower extremities as diagnosed by his podiatric physician. To our knowledge, the literature does not present any case reports in which cutaneous manifestations of the lower extremities followed by a further work-up allowed a diagnosis of HHT.

scholarly journals Osler-Weber-Rendu Disease Uncovered by Preeclampsia in a Case Report

2020 ◽  
Vol 2020 ◽  
pp. 1-4
Author(s):  
Jamal Ouachaou ◽  
Hamza Mimouni ◽  
Mohammed Maarad ◽  
Yassine Mellagui ◽  
Asmae Oulad Amar ◽  
...  
Keyword(s):  
Case Report ◽  
Disease Management ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Symptomatic Treatment ◽  
Patient Experiences ◽  
Associated Symptoms ◽  
Genetic Illness

Osler-Weber-Rendu disease (OWRD), called hereditary hemorrhagic telangiectasia, is an uncommon genetic illness with the dominant autosomal transmission. It cannot be easily or quickly diagnosed because of both its infrequency and its various associated symptoms. As far as its symptoms are concerned, the patient experiences recurring epistaxis, mucocutaneous telangiectasia, and arteriovenous malformations that can lead to severe undesirable symptoms. In our case, we report a 32-year-old female that was diagnosed with postpartum preeclampsia and whose paraclinical examinations showed that she suffers from hereditary hemorrhagic telangiectasia disease. Management of OWRD includes systematic diagnosis of visceral arteriovenous malformations (AVMs) in regular intervals, measures to prevent complications, and symptomatic treatment.

scholarly journals Mixed Purpuric and Maculopapular Lesions in a Patient with COVID-19: A Case Report

2020 ◽  
Vol 4 (3) ◽  
pp. 349-351 ◽  
Author(s):  
Randall Beaupre II ◽  
Cody Petrie ◽  
Alexander Toledo
Keyword(s):  
Case Report ◽  
Lower Extremities ◽  
Maculopapular Rash ◽  
The United States ◽  
Cutaneous Lesions ◽  
Cutaneous Manifestations ◽  
Presenting Symptoms ◽  
Normal Platelet ◽  
Maculopapular Eruption ◽  
Purpuric Rash

Introduction: The coronavirus disease of 2019 (COVID-19) caused by the novel severe acute respiratory syndrome coronavirus 2 is a global pandemic that expresses itself with a wide variety of presenting symptoms in patients. There is a paucity of literature describing the dermatologic manifestations of the virus, particularly in the United States. Case Report: Here we present a case of COVID-19 that manifested with a purpuric rash on the lower extremities and a maculopapular eruption on the abdomen in a patient in acute diabetic ketoacidosis and normal platelet count. Discussion: The reported presenting symptoms of patients with COVID-19 vary greatly. This is the first documented case of COVID-19 presenting with mixed cutaneous manifestations of a purpuric as well as maculopapular rash. Conclusion: The cutaneous lesions associated with the COVID-19 infection may mimic or appear similar to other well-known conditions. We illustrate a case of COVID-19 infection presenting with purpuric rash on the lower extremities and a maculopapular rash on the abdomen.

scholarly journals Embolization of a Duodenal Arteriovenous Malformation in Hereditary Hemorrhagic Telangiectasia: Case Report and Review of the Literature

2003 ◽  
Vol 17 (11) ◽  
pp. 661-665 ◽  
Author(s):  
Phil Inouye ◽  
Norman Marcon ◽  
Robin A Pugash ◽  
Robert H Hyland ◽  
Marie E Faughnan
Keyword(s):  
Case Report ◽  
Arteriovenous Malformation ◽  
Gastrointestinal Hemorrhage ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Blood Cells ◽  
Mesenteric Artery ◽  
Arteriovenous Malformations ◽  
Review Of The Literature ◽  
Lower Endoscopy ◽  
Artery Branch

A 68-year-old man with hereditary hemorrhagic telangiectasia presented with recurrent, intermittent gastrointestinal hemorrhage. Transfusion of a total of 27 units of red blood cells was required over the three months before admission. Upper and lower endoscopy did not reveal a source of bleeding and a technetium-labelled red blood cell scan was noncontributory. Angiography demonstrated a duodenal arteriovenous malformation originating from a superior mesenteric artery branch. Embolization of the arteriovenous malformation was performed with resolution of gastrointestinal hemorrhage and reduced requirement for blood transfusion. The utility of trans-catheter embolization in the management of duodenal arteriovenous malformations in hereditary hemorrhagic telangiectasia is discussed.

scholarly journals A Rare Concomitant Oncocytic Adrenocortical Neoplasm and Hepatocellular Carcinoma over a Four-year Duration: A Case Report and Review of Literature

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Daniyah Saleh ◽  
Wafaey Gomaa ◽  
Jaudah Al-Maghrabi
Keyword(s):  
Hepatocellular Carcinoma ◽  
Case Report ◽  
Case Reports ◽  
Second Primary ◽  
Review Of Literature ◽  
Liver Mass ◽  
Primary Tumors ◽  
Primary Neoplasm ◽  
Work Up

Oncocytic adrenocortical neoplasms (OANs) are very rare. Although most cases have benign behavior, the risk of recurrence/metastasis is variable. Based on Lin-Weiss-Bisceglia (LWB) system criteria, OANs can be classified as benign, borderline, or malignant. A concomitant development of OANs with second primary neoplasm is extremely uncommon, and is limited to very few case reports. None of these reported cases was found to be associated with hepatocellular carcinoma (HCC). In this case report, we present a 64-year-old female patient who had a progressively increasing left supra-renal mass over a three-year interval. During her regular imaging-based follow up after successful left adrenalectomy, a new suspicious solitary, hypodense liver mass was detected and removed. All necessary work-up was done and strongly support the diagnosis of two distinct primary tumors including borderline malignant potential OAN and subsequent HCC. A significant clinical and morphological characteristic of OANs make its identification valuable.

scholarly journals Hereditary hemorrhagic telangiectasia diagnosed by enteroscopy: a case report

2021 ◽  
Vol 49 (12) ◽  
pp. 030006052110673
Author(s):  
Margarita Rey ◽  
Johana Milena Salazar ◽  
Drixie Dalyla Leal ◽  
Fernando Sierra ◽  
Erika Pérez ◽  
...  
Keyword(s):  
Case Report ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Laboratory Tests ◽  
Autosomal Dominant ◽  
Double Balloon Enteroscopy ◽  
Multisystemic Disease ◽  
History Of ◽  
Patient’S History ◽  
Endoscopic Methods

Hereditary hemorrhagic telangiectasia (HHT) is a very rare autosomal dominant multisystemic disease. Patients with this disease usually present with punctate mucocutaneous telangiectasias and arteriovenous malformations. The diagnostic criteria currently in use are the Curaçao criteria. HHT is considered a clinical diagnosis; thus, no imaging or preclinical laboratory is mandatory, and diagnosis and management are performed according to the experience of the treating team. We herein describe a 58-year-old man with no significant medical history who presented with a 15-day history of intermittent hematochezia. He was admitted to the hospital and underwent a series of laboratory tests, including colonoscopy, which showed normal results. Therefore, the patient was discharged with a diagnosis of gastrointestinal bleeding. During his second visit to the emergency room, the doctors requested video capsule endoscopy because of the patient’s history, and a diagnosis of HHT was made. The entire approach and treatment were completed with antegrade double-balloon enteroscopy. This case highlights the importance of endoscopic methods for timely diagnosis and proper management.

scholarly journals Hereditary hemorrhagic telangiectasia with bilateral pulmonary vascular malformations: A case report

2016 ◽  
Vol 73 (10) ◽  
pp. 956-960
Author(s):  
Olivera Loncarevic ◽  
Sinisa Rusovic ◽  
Marko Stojisavljevic ◽  
Jelena Vukovic ◽  
Goran Plavec ◽  
...  
Keyword(s):  
Case Report ◽  
Blood Vessels ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Multidisciplinary Approach ◽  
Transforming Growth Factor ◽  
Fatal Outcome ◽  
Clinical Consequence ◽  
Organic System ◽  
Organ Systems

Introduction. Hereditary hemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu syndrome is an autosomal dominant disease that occurs due to vascular dysplasia associated with the disorder in the signaling pathway of transforming growth factor ? (TGF-?). The clinical consequence is a disorder of blood vessels in multiple organ systems with the existence of telangiectasia which causes dilation of capillaries and veins, are present from birth and are localized on the skin and mucosa of the mouth, respiratory, gastrointestinal and urinary tract. They can make a rupture with consequent serious bleeding that can end up with fatal outcome. Since there is a disruption of blood vessels of more than one organic system, the diagnosis is very complex and requires a multidisciplinary approach. Case report. We reported a 40-year-old female patient with a long-time evolution of problems, who was diagnosed and treated at the Clinic for Lung Diseases of the Military Medical Academy in Belgrade, Serbia, because of bilaterally pulmonary arteriovenous malformations associated with HHT. Embolization was performed in two acts, followed with normalization of clinical, radiological and functional findings with the cessation of hemoptysis, effort intolerance with a significant improvement of the quality of life. Conclusion. HHT is a rare dominant inherited multisystem disease that requires multidisciplinary approach to diagnosis and treatment. Embolization is the method of choice in the treatment of arteriovenous malformations with minor adverse effects and very satisfying therapeutic effect.

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