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Indian Journal of Ophthalmology Jun 2019Coats disease is an idiopathic retinal vascular disorder with retinal telangiectasia with intraretinal and/or subretinal exudation without appreciable retinal or vitreal... (Review)
Review
Coats disease is an idiopathic retinal vascular disorder with retinal telangiectasia with intraretinal and/or subretinal exudation without appreciable retinal or vitreal traction. The condition is sporadic with no associated systemic abnormalities. Unilateral involvement in young males is the typical presentation with most cases being diagnosed in the first and second decade of life. Younger the patient, more severe is the presentation and poorer the visual outcome. The management varies with the stage of the disease. Over the years, we have shifted from enucleation to a more conservative approach for the treatment of Coats disease with laser photocoagulation, cryotherapy and surgery for retinal detachment achieving good outcomes. The anti-VEGF agents have come into the scene as important form of adjuvant treatment along with the traditional management options. This article describes the clinical features, underlying pathology, classification and staging, the complications and the management of Coats disease and gives an overview of the changing trends in treatment and outcomes spanning across five decades.
Topics: Diagnosis, Differential; Disease Management; Fluorescein Angiography; Fundus Oculi; Humans; Retina; Retinal Telangiectasis; Tomography, Optical Coherence
PubMed: 31124484
DOI: 10.4103/ijo.IJO_841_19 -
Hereditary hemorrhagic telangiectasia: diagnosis and management from the hematologist's perspective.Haematologica Sep 2018Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The... (Review)
Review
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder that causes abnormal blood vessel formation. The diagnosis of hereditary hemorrhagic telangiectasia is clinical, based on the Curaçao criteria. Genetic mutations that have been identified include , , and , among others. Patients with HHT may have telangiectasias and arteriovenous malformations in various organs and suffer from many complications including bleeding, anemia, iron deficiency, and high-output heart failure. Families with the same mutation exhibit considerable phenotypic variation. Optimal treatment is best delivered a multidisciplinary approach with appropriate diagnosis, screening and local and/or systemic management of lesions. Anti-angiogenic agents such as bevacizumab have emerged as a promising systemic therapy in reducing bleeding complications but are not curative. Other pharmacological agents include iron supplementation, antifibrinolytics and hormonal treatment. This review discusses the biology of HHT, management issues that face the practising hematologist, and considerations of future directions in HHT treatment.
Topics: Animals; Biomarkers; Clinical Trials as Topic; Combined Modality Therapy; Disease Management; Disease Susceptibility; Genetic Association Studies; Humans; Mutation; Phenotype; Telangiectasia, Hereditary Hemorrhagic; Treatment Outcome
PubMed: 29794143
DOI: 10.3324/haematol.2018.193003 -
Journal of the American Academy of... Jun 2019Rosacea has been reported less frequently among individuals with skin of color than in those with white skin, but rosacea is not a rare disease in this population. In... (Comparative Study)
Comparative Study Review
Rosacea has been reported less frequently among individuals with skin of color than in those with white skin, but rosacea is not a rare disease in this population. In fact, rosacea might be underreported and underdiagnosed in populations with skin of color because of the difficulty of discerning erythema and telangiectasia in dark skin. The susceptibility of persons with highly pigmented skin to dermatologic conditions like rosacea, whose triggers include sun exposure, is probably underestimated. Many people with skin of color who have rosacea might experience delayed diagnosis, leading to inappropriate or inadequate treatment; greater morbidity; and uncontrolled, progressive disease with disfiguring manifestations, including phymatous rosacea. In this article, we review the epidemiology of rosacea in skin of color and highlight variations in the clinical presentation of rosacea across the diverse spectrum of patient populations affected. We present strategies to aid in the timely diagnosis and effective treatment of rosacea in patients with skin of color, with an aim of promoting increased awareness of rosacea in these patients and reducing disparities in the management of their disease.
Topics: Acne Vulgaris; Delayed Diagnosis; Dermatitis; Diagnosis, Differential; Erythema; Flushing; Global Health; Healthcare Disparities; Humans; Medical History Taking; Prevalence; Racial Groups; Rosacea; Skin Pigmentation; Symptom Assessment; Telangiectasis
PubMed: 30240779
DOI: 10.1016/j.jaad.2018.08.049 -
Journal of Vascular Surgery. Venous and... May 2017Telangiectasias and spider veins are considered a common cosmetic concern for both women and men. Sclerotherapy is a frequently used, low-risk, and highly successful... (Review)
Review
Telangiectasias and spider veins are considered a common cosmetic concern for both women and men. Sclerotherapy is a frequently used, low-risk, and highly successful method to treat these venous problems. This article reviews the pathophysiology and diagnosis of telangiectasias and reticular veins as well as the currently available agents and techniques of sclerotherapy. The possible complications and adverse outcomes of sclerotherapy are described. Standard care and follow-up for patients after the procedure are outlined. Also included are tips and tricks found to be valuable in a busy vein practice.
Topics: Aged; Cosmetic Techniques; Female; Humans; Male; Middle Aged; Patient Satisfaction; Postoperative Care; Retreatment; Sclerosing Solutions; Sclerotherapy; Telangiectasis
PubMed: 28411713
DOI: 10.1016/j.jvsv.2017.02.002 -
Canadian Medical Association Journal Nov 1964Ataxia-telangiectasia is a syndrome of progressive cerebellar ataxia and other neurological manifestations associated with conjunctival and cutaneous telangiectases and...
Ataxia-telangiectasia is a syndrome of progressive cerebellar ataxia and other neurological manifestations associated with conjunctival and cutaneous telangiectases and with recurrent sino-pulmonary infections. Immunological and endocrine abnormalities occur. Two girls with this disease are described. The first had only minor respiratory infections; her serum proteins and immunity responses appeared normal. The second had recurrent pulmonary infections and bronchiectasis; she also exhibited sclerodermatous changes, poor development of secondary sexual characteristics with low urinary excretion of 17-ketosteroids, and lymphopenia. Autopsy at 17 years showed bilateral ovarian dysgerminomata and excessive cutaneous collagen as well as atrophy, and perhaps hypoplasia, of adrenals, thymus, spleen and lymphoid tissue (after steroid therapy). The cerebellum exhibited cortical degeneration. Both lungs were fibrotic with old and recent bronchopneumonia and bronchiectasis. The left lung was studied by injection of a latex preparation; no arteriovenous aneurysms were found, but the smaller pulmonary vessels showed some unusual morphological characteristics.
Topics: 17-Ketosteroids; Adolescent; Ataxia; Ataxia Telangiectasia; Atrophy; Blood Protein Electrophoresis; Bronchiectasis; Cerebellar Diseases; Child; Conjunctiva; Dysgerminoma; Eosinophils; Female; Genetics, Medical; Humans; Hypogonadism; Immunoelectrophoresis; Infant; Infant, Newborn; Leukocyte Count; Lymphocytes; Neoplasms, Germ Cell and Embryonal; Neurologic Manifestations; Ovarian Neoplasms; Pathology; Pulmonary Circulation; Pulmonary Fibrosis; Scleroderma, Systemic; Telangiectasis; Urine
PubMed: 14229760
DOI: No ID Found -
Respiration; International Review of... 2017Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent... (Review)
Review
Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder with an estimated prevalence of 1 in 6,000, characterized by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) that affect many organs including the lungs, gastrointestinal tract, liver, and brain. Its diagnosis is based on the Curaçao criteria, and is considered definite if at least 3 of the 4 following criteria are fulfilled: (1) spontaneous and recurrent epistaxis, (2) telangiectasia, (3) a family history, and (4) pulmonary, liver, cerebral, spinal, or gastrointestinal AVMs. The focus of this review is on delineating how HHT affects the lung.
Topics: Arteriovenous Malformations; Humans; Hypertension, Pulmonary; Pulmonary Arterial Hypertension; Pulmonary Circulation; Telangiectasia, Hereditary Hemorrhagic; Telangiectasis
PubMed: 28850955
DOI: 10.1159/000479632 -
AJNR. American Journal of Neuroradiology Nov 2022The presence of malformations of cortical development in patients with hereditary hemorrhagic telangiectasia has been reported on previous occasions. We evaluated a...
BACKGROUND AND PURPOSE
The presence of malformations of cortical development in patients with hereditary hemorrhagic telangiectasia has been reported on previous occasions. We evaluated a sample of adults with hereditary hemorrhagic telangiectasia for the presence of malformations of cortical development, spatial coincidence of malformations of cortical development and AVMs, and the coincidence of brain and pulmonary AVMs.
MATERIALS AND METHODS
A total of 141 patients 18 years of age or older who were referred to the Augusta University hereditary hemorrhagic telangiectasia clinic and underwent brain MR imaging between January 19, 2018, and December 3, 2020, were identified. MR imaging examinations were reviewed retrospectively by 2 experienced neuroradiologists, and the presence of malformations of cortical development and AVMs was confirmed by consensus. Demographic and clinical information was collected for each case, including age, sex, hereditary hemorrhagic telangiectasia status by the Curacao Criteria, mutation type, presence of malformations of cortical development, presence of brain AVMs, presence of pulmonary AVMs, and a history of seizures or learning disabilities.
RESULTS
Five of 141 (3.5%) patients with hereditary hemorrhagic telangiectasia had malformations of cortical development. Two of the 5 patients with polymicrogyria also had closed-lip schizencephaly. One of the patients had a porencephalic cavity partially lined with heterotopic GM. The incidence of spatially coincident polymicrogyria and brain AVMs was 40% (2/5 cases). Of the patients with hereditary hemorrhagic telangiectasia and malformations of cortical development, 4/5 (80%) had pulmonary AVMs and 2/5 (40%) had brain AVMs.
CONCLUSIONS
To our knowledge, we are the first group to report the presence of schizencephaly in patients with hereditary hemorrhagic telangiectasia. The presence of schizencephaly and porencephaly lends support to the hypothesis of regional in utero cerebral hypoxic events as the etiology of malformations of cortical development in hereditary hemorrhagic telangiectasia.
Topics: Adult; Humans; Adolescent; Telangiectasia, Hereditary Hemorrhagic; Schizencephaly; Polymicrogyria; Retrospective Studies; Arteriovenous Malformations
PubMed: 36265891
DOI: 10.3174/ajnr.A7677 -
Blood Apr 2020The TEMPI syndrome is a rare and acquired disorder characterized by 5 salient features, which compose its name: (1) telangiectasias; (2) elevated erythropoietin and...
The TEMPI syndrome is a rare and acquired disorder characterized by 5 salient features, which compose its name: (1) telangiectasias; (2) elevated erythropoietin and erythrocytosis; (3) monoclonal gammopathy; (4) perinephric fluid collections; and (5) intrapulmonary shunting. Complete resolution of symptoms following treatment with plasma cell-directed therapy supports the hypothesis that the monoclonal antibody is causal and pathogenic. Understanding the basis of the TEMPI syndrome will depend on the identification of additional patients and a coordinated international effort.
Topics: Erythropoietin; Humans; Lung Diseases; Paraproteinemias; Polycythemia; Syndrome; Telangiectasis
PubMed: 32108223
DOI: 10.1182/blood.2019004216 -
Archives of Pathology & Laboratory... May 2012Osteosarcoma is one of the most common primary malignant bone tumors in children and adolescents. Telangiectatic osteosarcoma is an unusual variant of osteosarcoma,... (Review)
Review
Osteosarcoma is one of the most common primary malignant bone tumors in children and adolescents. Telangiectatic osteosarcoma is an unusual variant of osteosarcoma, forming 3% to 10% of all osteosarcomas. Radiographically, these tumors appear as purely lytic destructive lesions located in the metaphyses of long bones. The location and x-ray appearance of telangiectatic osteosarcomas are reminiscent of an aneurysmal bone cyst and can test the acumen of a diagnostic radiologist. Distinguishing between the two entities microscopically can also be quite challenging. Telangiectatic osteosarcoma shows dilated blood-filled spaces lined or traversed by septa containing atypical stromal cells, with or without production of a lacelike osteoid matrix. This review highlights the diagnostic features of telangiectatic osteosarcoma and discusses differential diagnostic considerations, treatment options, and prognostic implications.
Topics: Adolescent; Bone Neoplasms; Child; Female; Humans; Male; Osteosarcoma; Telangiectasis; Young Adult
PubMed: 22540307
DOI: 10.5858/arpa.2011-0204-RS -
Orphanet Journal of Rare Diseases Jun 2019Hereditary hemorrhagic teleangectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by arterio-venous malformations (AVMs or... (Review)
Review
Hereditary hemorrhagic teleangectasia (HHT, or Rendu-Osler-Weber disease) is a rare inherited syndrome, characterized by arterio-venous malformations (AVMs or Telangiectasia). The most important and common manifestation is nose bleeds (epistaxis). The telangiectasias (small AVMs) are most evident on the lips, tongue, buccal mucosa, face, chest, and fingers, however; large arterio-venous malformations can also occur in the lungs, liver, pancreas, or brain. Telangiectasias in the upper gastrointestinal tract are known to occur, however data regarding possible small-bowel involvement is limited due to technical difficulties in visualizing the entire gastrointestinal tract. The occurrence of AVMs in the stomach and small bowel can result in chronic bleeding and anaemia. Less frequently, this may occur due to bleeding from oesophageal varices, as patients with HHT can develop hepatic parenchymal AVMs or vascular shunts which cause hepatic cirrhosis and portal hypertension. Gastroenterologists have a crucial role in the management of these patients, however difficulties remain in the detection and management of complications of HHT in the gastrointestinal tract.
Topics: Arteriovenous Malformations; Female; Gastroenterologists; Humans; Male; Telangiectasia, Hereditary Hemorrhagic
PubMed: 31174568
DOI: 10.1186/s13023-019-1107-4