Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 mutation in the MRE11 gene (meiotic recombination 11 gene), which causes DNA-double strand break repair deficits. Clinical features patients resemble those telangiectasia (AT), slower progression milder presentation. Main symptom...

BACKGROUND Telangiectasia, dilated blood vessels near the surface of the skin of small, varying diameter, are critical dermoscopy structures used in the detection of basal cell carcinoma (BCC). Distinguishing these vessels from other telangiectasia, that are commonly found in sun-damaged skin, is challenging. METHODS Image analysis techniques are investigated to find vessels structures in BCC...

AIM To investigate glucose and insulin metabolism in participants with ataxia telangiectasia in the absence of a diagnosis of diabetes. METHODS A standard oral glucose tolerance test was performed in participants with ataxia telangiectasia (n = 10) and in a control cohort (n = 10). Serial glucose and insulin measurements were taken to permit cohort comparisons of glucose-insulin homeostasis a...

BACKGROUND Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor beta (TGF-beta) superfamily of receptors. Because patients with hereditary hemorrhagic telangiectasia may have lung disease that is indistinguishable from primary pulmonary hypertension, we investigated the ...

PURPOSE To characterize the variations in fundus fluorescein angiography (FFA) features in idiopathic macular telangiectasia (IMT) type 2. METHODS Retrospective observational study. The authors included all the patients with IMT type 2 who underwent FFA during the period from January 2004 to December 2005. The main outcome measures were subretinal neovascularization and number and distance of...

BACKGROUND AND PURPOSE Hereditary hemorrhagic telangiectasia is an autosomal dominant disease that presents in 10%-20% of patients with various brain vascular malformations. We aimed to report the radiologic features (phenotype) and the genotype-phenotype correlations of brain vascular malformations in hereditary hemorrhagic telangiectasia. MATERIALS AND METHODS Demographic, clinical, genotyp...

Background: Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder caused by variants of ATM (ataxia telangiectasia mutated) gene. These patients develop metabolic changes over time. We aimed to assess the correlation between neurological features, nutritional status, and in AT patients.Methods: Cross-sectional study with prospective data from 25 aged 5 31 years.Results...

Citation: Navarro-Navarro I, Ortiz-Prieto A, Gallo-Pineda G, Viedma-Martínez M, Jiménez-Gallo D, Linares-Barrios M. Acquired Bilateral Nevoid Telangiectasia Induced by Tamoxifen. Dermatol Pract Concept. 2023;13(2):e2023071. DOI: https://doi.org/10.5826/dpc.1302a71

Subpopulations that are genetically predisposed to radiation-induced cancer could have significant public health consequences. Individuals homozygous for null mutations at the ataxia telangiectasia gene are indeed highly radiosensitive, but their numbers are very small. Ataxia Telangiectasia heterozygotes (1-2% of the population) have been associated with somewhat increased radiosensitivity for...

Ataxia telangiectasia is a progressive, neurodegenerative disease causing immunodeficiency, an increased risk of malignancy and respiratory disease, such as chronic sinopulmonary infection, aspiration, bronchiectasis and interstitial lung disease. The leading causes of premature death in ataxia telangiectasia are cancer and respiratory disease [1]. Published recommendations about management of ...