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Hereditary haemorrhagic telangiectasia and pregnancy: a review of the literature.
Dupuis O, Delagrange L, Dupuis-Girod S. Dupuis O, et al. Orphanet J Rare Dis. 2020 Jan 7;15(1):5. doi: 10.1186/s13023-019-1286-z. Orphanet J Rare Dis. 2020. PMID: 31910869 Free PMC article. Review.
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 to 1:8000, and which is characterised by recurrent epistaxis, cutaneous telangiectasia, and arteriovenous malformations (AVMs) …
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited genetic vascular disorder that has prevalence of 1:5000 t …
Variation in telangiectasia predisposing genes is associated with overall radiation toxicity.
Tanteles GA, Murray RJ, Mills J, Barwell J, Chakraborti P, Chan S, Cheung KL, Ennis D, Khurshid N, Lambert K, Machhar R, Meisuria M, Osman A, Peat I, Sahota H, Woodings P, Talbot CJ, Symonds RP. Tanteles GA, et al. Int J Radiat Oncol Biol Phys. 2012 Nov 15;84(4):1031-6. doi: 10.1016/j.ijrobp.2012.02.018. Epub 2012 Jun 6. Int J Radiat Oncol Biol Phys. 2012. PMID: 22677372
We hypothesized that single nucleotide polymorphisms (SNPs) in genes known to cause heritable telangiectasia-associated disorders could predispose to such late, normal tissue vascular damage. METHODS AND MATERIALS: The relationship between cutaneous telangiectasia a …
We hypothesized that single nucleotide polymorphisms (SNPs) in genes known to cause heritable telangiectasia-associated disorders could pred …
Adrenomedullin as a potential biomarker involved in patients with hereditary hemorrhagic telangiectasia.
Iriarte A, Ochoa-Callejero L, García-Sanmartín J, Cerdà P, Garrido P, Narro-Íñiguez J, Mora-Luján JM, Jucglà A, Sánchez-Corral MA, Cruellas F, Gamundi E, Ribas J, Castellote J, Viñals F, Martínez A, Riera-Mestre A. Iriarte A, et al. Eur J Intern Med. 2021 Jun;88:89-95. doi: 10.1016/j.ejim.2021.03.039. Epub 2021 Apr 20. Eur J Intern Med. 2021. PMID: 33888392 Free article.
The single nucleotide polymorphism (SNP) rs4910118 was assessed by restriction analysis and sequencing. AM immunohistochemistry was performed on biopsies of cutaneous telangiectasia from eight HHT patients and on the healthy skin from five patients in the control gr …
The single nucleotide polymorphism (SNP) rs4910118 was assessed by restriction analysis and sequencing. AM immunohistochemistry was performe …
Lung disease in ataxia-telangiectasia.
Bott L, Lebreton J, Thumerelle C, Cuvellier J, Deschildre A, Sardet A. Bott L, et al. Acta Paediatr. 2007 Jul;96(7):1021-4. doi: 10.1111/j.1651-2227.2007.00338.x. Epub 2007 May 24. Acta Paediatr. 2007. PMID: 17524020
PATIENTS AND METHODS: A diagnosis of AT was made if the patient met the following criteria: neurological features and at least one the following: oculo-cutaneous telangiectasia, elevated serum alpha-feto-protein level. ...
PATIENTS AND METHODS: A diagnosis of AT was made if the patient met the following criteria: neurological features and at least one the follo …
Digital Clubbing in Hereditary Hemorrhagic Telangiectasia/Juvenile Polyposis Syndrome.
Mrzljak A, Popić J, Ožanić Bulić S. Mrzljak A, et al. Acta Dermatovenerol Croat. 2021 Apr;291(1):56-57. Acta Dermatovenerol Croat. 2021. PMID: 34477067
They are most frequently found on the face, with highest incidence on the nose, lips, tongue, and ears, followed by the fingertips, trunk, and feet; telangiectasia is recognized as the most common of the three criteria required for the diagnosis of HHT (1). Interestingly, no c …
They are most frequently found on the face, with highest incidence on the nose, lips, tongue, and ears, followed by the fingertips, trunk, a …
Telangiectasia macularis multiplex acquisita: a new entity in Chinese populations and an analysis of associated factors.
Chang CH, Lu PH, Kuo CJ, Yang CH. Chang CH, et al. Int J Dermatol. 2013 Apr;52(4):426-31. doi: 10.1111/j.1365-4632.2011.05331.x. Epub 2012 Aug 22. Int J Dermatol. 2013. PMID: 22913263
The clinical criteria for diagnosis of TMMA included: (i) crops of telangiectasia superimposed on erythematous macules symmetrically on bilateral upper arms, possibly extending to the forearms, shoulders, V-shaped area of the anterior chest, back or thighs; (ii) no mucosal or sys …
The clinical criteria for diagnosis of TMMA included: (i) crops of telangiectasia superimposed on erythematous macules symmetrically on bila …
Skin Telangiectasia and the Identification of a Subset of Systemic Sclerosis Patients With Severe Vascular Disease.
Hurabielle C, Avouac J, Lepri G, de Risi T, Kahan A, Allanore Y. Hurabielle C, et al. Arthritis Care Res (Hoboken). 2016 Jul;68(7):1021-7. doi: 10.1002/acr.22766. Arthritis Care Res (Hoboken). 2016. PMID: 26474084 Free article.
OBJECTIVE: Cutaneous telangiectasia (CT) are common in systemic sclerosis (SSc) patients, but their ability to stratify patients by risk is poorly known. ...
OBJECTIVE: Cutaneous telangiectasia (CT) are common in systemic sclerosis (SSc) patients, but their ability to stratify patien …
Acute paraplegia due to spinal arteriovenous fistula in two patients with hereditary hemorrhagic telangiectasia.
Poisson A, Vasdev A, Brunelle F, Plauchu H, Dupuis-Girod S; French Italian HHT network. Poisson A, et al. Eur J Pediatr. 2009 Feb;168(2):135-9. doi: 10.1007/s00431-008-0863-2. Epub 2008 Nov 20. Eur J Pediatr. 2009. PMID: 19020899 Review.
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by recurrent epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations (AVM). ...
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by recurrent epistaxis, cutaneous tela …
No evidence for constitutional ATM mutation in breast/gastric cancer families.
Bay JO, Grancho M, Pernin D, Presneau N, Rio P, Tchirkov A, Uhrhammer N, Verrelle P, Gatti RA, Bignon YJ. Bay JO, et al. Int J Oncol. 1998 Jun;12(6):1385-90. doi: 10.3892/ijo.12.6.1385. Int J Oncol. 1998. PMID: 9592204
Ataxia-Telangiectasia (A-T) is a rare autosomal recessive disease characterised by cutaneous telangiectasia, cerebellar ataxia, immunodeficiency, high sensitivity to ionising radiation, chromosomal instability and an increased risk of cancer. ...
Ataxia-Telangiectasia (A-T) is a rare autosomal recessive disease characterised by cutaneous telangiectasia, cerebellar ataxia …
Endovascular treatment of spinal arteriovenous fistula in a young child with hereditary hemorrhagic telangiectasia. Case report.
Stephan MJ, Nesbit GM, Behrens ML, Whitaker MA, Barnwell SL, Selden NR. Stephan MJ, et al. J Neurosurg. 2005 Nov;103(5 Suppl):462-5. doi: 10.3171/ped.2005.103.5.0462. J Neurosurg. 2005. PMID: 16302622
An 18-month-old child with a strong family history of HHT, including fatal central nervous system (CNS) hemorrhage and pulmonary AVMs, presented with a cutaneous telangiectasia of the pinna. The child was subsequently screened for potentially morbid pulmonary and CN …
An 18-month-old child with a strong family history of HHT, including fatal central nervous system (CNS) hemorrhage and pulmonary AVMs, prese …
12 results