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 De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia

2016 ◽  
Vol 17 (3) ◽  
pp. 330-335 ◽  
Author(s):  
Yusuke Shimoda ◽  
Toshiya Osanai ◽  
Naoki Nakayama ◽  
Satoshi Ushikoshi ◽  
Masaaki Hokari ◽  
...  
Keyword(s):  
Family History ◽  
Arteriovenous Malformation ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
De Novo ◽  
The Family ◽  
Systemic Disorder ◽  
History Of ◽  
Cerebral Avms

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant systemic disorder characterized by the enlargement of capillaries, recurrent nosebleeds, and multiple arteriovenous malformations (AVMs). Although cerebral AVMs are traditionally considered to be congenital lesions, some reports have described de novo AVMs, which suggests that the authors believed them to be dynamic conditions. In this article, the authors describe the case of a 5-year-old boy with HHT in whom a de novo cerebral AVM was detected after a negative MRI result at 5 months. To the authors’ knowledge, this is the first report of a de novo AVM in a patient with HHT. In patients with a family history of HHT, de novo AVMs are possible, even when no lesions are detected at the first screening. Therefore, regular screenings need to be performed, and the family should be informed that AVMs could still develop despite normal MRI results.

scholarly journals Hereditary Hemorrhagic Telangiectasia: A Genetic Disorder with Oral Manifestations

2014 ◽  
Vol 3 (1) ◽  
pp. 49-52
Author(s):  
Apollonia Desiate ◽  
Stefania Cantore ◽  
Andrea Ballini
Keyword(s):  
Family History ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Arteriovenous Malformations ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Oral Manifestations ◽  
Systemic Diseases ◽  
Recurrent Epistaxis ◽  
History Of ◽  
Broad Understanding

ABSTRACT The case of a 74-year-old man who was diagnosed as having hereditary hemorrhagic telangiectasia (HHT), with telangiectasies localized in oral district is presented. This condition is an autosomal dominant mucocutaneous and visceral fibrovascular dysplasia in which telangiectasia, arteriovenous malformations and aneurysms may be widely distributed throughout the cardiovascular system. It is usually recognized as a ‘triad’ of telangiectasia, recurrent epistaxis and a family history of the disorder. The nature of the practice of dentistry necessitates a broad understanding of the systemic diseases reflected in the oral cavity. Hereditary hemorrhagic telangiectasia is one such disease. How to cite this article Ballini A, Cantore S, Desiate A. Hereditary Hemorrhagic Telangiectasia: A Genetic Disorder with Oral Manifestations. Int J Experiment Dent Sci 2014; 3(1): 49-52.

scholarly journals Muir-Torre Syndrome: case report and molecular characterization

2014 ◽  
Vol 132 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Carolina Alejandra Rios ◽  
Ricardo Villalon ◽  
Jorge Munoz ◽  
Monica Acuna ◽  
Lucia Cifuentes
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Treatment Options ◽  
Skin Lesions ◽  
Molecular Techniques ◽  
Causative Mutation ◽  
Colorectal Tumors ◽  
History Of ◽  
Repair Genes ◽  
Microsatellite Instability Analysis

CONTEXT: Muir-Torre syndrome is a rare autosomal dominant genodermatosis caused by mutations in the mismatch repair genes. It is characterized by the presence of sebaceous skin tumors and internal malignancies, affecting mainly the colon, rectum and urogenital tract. Awareness of this syndrome among physicians can lead to early diagnosis of these malignancies and a better prognosis. CASE REPORT: We report the case of a Chilean patient who, over the course of several years, had multiple skin lesions, endometrial cancer and colon cancer. The syndrome was diagnosed using molecular techniques such as microsatellite instability analysis, immunohistochemistry and DNA sequencing, which allowed us to find the causative mutation. CONCLUSION: Molecular diagnostics is a highly useful tool, since it allows clinicians to confirm the presence of mutations causing Muir-Torre syndrome. It is complementary to the analysis of the clinical data, such as dermatological presentation, presence of visceral malignancies and family history of colorectal tumors, and it provides important knowledge to help physicians and patients choose between treatment options.

Moderate Grade Astrocytoma Presenting in a 4-Month-Old Child with a Family History of von Recklinghausen's Neurofibromatosis Spanning Four Generations: A Case Report

Neurosurgery ◽  
1983 ◽  
Vol 13 (6) ◽  
pp. 692-694
Author(s):  
Nancy E. Epstein ◽  
Alan D. Rosenthal ◽  
Jay Selman ◽  
Michael Osipoff ◽  
Roger A. Hyman
Keyword(s):  
Case Report ◽  
Family History ◽  
Autosomal Dominant ◽  
History Of ◽  
Thalamic Glioma ◽  
Von Recklinghausen's Neurofibromatosis ◽  
Neonatal Lesions ◽  
Von Recklinghausen’S Neurofibromatosis

Abstract Intracranial gliomas are found in association with von Recklinghausen's neurofibromatosis. However, few truly neonatal lesions have been identified and studied. This case report concerns a 4-month-old child who was found to have a massive thalamic glioma of moderate grade. Four paternal generations had suffered from different manifestations of this transmissible autosomal-dominant (Ad) phakomatosis.

scholarly journals Lyme disease, An Emerging Infection in Nepal: A Case Report

2020 ◽  
Vol 8 (02) ◽  
pp. 90-92
Author(s):  
Prabin Khatri ◽  
Chandra Mohan Sah ◽  
Rano Mal Piryani ◽  
Shatdal Chaudhary ◽  
Puspa Raj Dhakal ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Lyme Disease ◽  
Borrelia Burgdorferi ◽  
Joint Pain ◽  
Histological Findings ◽  
Multisystemic Disease ◽  
Tingling Sensation ◽  
History Of ◽  
The Given

ABSTRACT Lyme disease, an infectious multisystemic disease is caused by "Borrelia burgdorferi". It is a spirochete transmitted by the Ixodes tick. Until today, only one case has been reported from Nepal. Here we report case of a 50-year female from Gulmi, who presented with a history of fever, multiple joint pain, tiredness, tingling sensation, and a painful brownish raised lesion over the neck and anterior chest. The clinical diagnosis was confirmed by histological findings typical of erythema chronicum migrans and by serology. The patient was treated successfully with doxycycline. This is the second case report of Lyme disease from Nepal and the first documented case who presented with typical erythema chronicum migrans. We suspect that Lyme disease might not have been considered in the differential diagnosis of fever with rash and joint pain in Nepal and suggest that it is to be kept as a differential in the given scenario.  

scholarly journals Gorlin-Goltz Syndrome - An Unusual Case Report

2016 ◽  
Vol 5 (1) ◽  
pp. 1071
Author(s):  
B. Thayumanavan ◽  
T. Jeyanthikumari ◽  
P. Meghalapriya
Keyword(s):  
Case Report ◽  
Unusual Case ◽  
Autosomal Dominant ◽  
Keratocystic Odontogenic Tumor ◽  
Review Of Literature ◽  
Autosomal Dominant Disorder ◽  
Goltz Syndrome ◽  
Multisystemic Disease ◽  
Consistent Feature ◽  
Unusual Case Report

Gorlin-Goltz syndrome is an uncommon autosomal dominant disorder manifesting as a multisystemic disease. Keratocystic odontogenic tumor (KCOT) is considered as the most consistent feature of this syndrome. Dentists play a key role in making early diagnosis of this syndrome. Here we present a case of Gorlin- Goltz syndrome identified by multiple multilocular radiolucencies in the mandible. A review of literature of different diagnostic criteria for Gorlin-Goltz syndrome is also discussed.

scholarly journals Recurrence of Avellino Corneal Dystrophy Following Penetrating Keratoplasty: A Case Report

2021 ◽  
Vol 59 (236) ◽  
Author(s):  
Rachana Singh Rana ◽  
Leena Bajracharya ◽  
Reeta Gurung
Keyword(s):  
Case Report ◽  
Penetrating Keratoplasty ◽  
Autosomal Dominant ◽  
Corneal Dystrophy ◽  
Rare Disorder ◽  
Epithelial Defect ◽  
Autosomal Dominant Fashion ◽  
History Of

Granular – lattice (Avellino) corneal dystrophy is inherited in an autosomal dominant fashion which affects stroma of the cornea with recurrent erosions and decreased vision due to clouding of cornea in later stage. We reported a case of 53-year old woman presented with pain and blurring of vision of left eye for 10 days with history of right eye deep anterior lamellar dystrophy and Left eye penetrating keratoplasty 5years back for Avellino dystrophy. On examination right eye graft was clear and left eye showed circular edges of irregular epithelium with patchy stains and epithelial defect suggestive of recurrence of dystrophy. A patient with recurrent corneal erosions and opacity in cornea has to be examined carefully so as not to overlook Avellino corneal dystrophy. Being a rare disorder this case has been reported to draw the attention of ophthalmologists about its recurrence following keratoplasty.

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.

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 PeutzJeghers syndrome: A case report and literature review

2014 ◽  
Vol 4 (8) ◽  
pp. 677-679
Author(s):  
A Lakhey ◽  
H Shakya
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Physical Examination ◽  
Rectal Bleeding ◽  
Buccal Mucosa ◽  
Autosomal Dominant ◽  
Hamartomatous Polyps ◽  
Pigmented Lesions ◽  
History Of ◽  
Peutz Jeghers Syndrome

Peutz–Jeghers Syndrome is an autosomal dominant inheritedhamartomatous polyp. We present a case of a 5-year-old young boywith a history of per rectal bleeding and mass protruding out of the anus. Physical examination revealed presence of mucocutaneous pigmented lesions over the tongue, and few hamartomatous polyps protruding out of the rectum suggesting Peutz–Jeghers syndrome. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips,buccal mucosa and perioral skin, should alert the clinician to Peutz–Jeghers Syndrome.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11597 Journal of Pathology of Nepal; Vol.4,No. 8 (2014) 677-679

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