Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is an autosomal dominant disorder of the fibrovascular tissue. It is characterized by the classic triad of mucocutaneous telangiectasias, recurrent hemorrhages, and familial occurrence. The cutaneous manifestation appear clinically as punctuate, linear, or splinter-like telangiectasias of the upper body, oral, and n...

Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, variable immunodeficiency and oculo-cutaneous telangiectasia. A-T is a member of chromosomal breakage syndromes and it is caused by a mutation in the ataxia-telangiectasia mutated (ATM) gene. Because of a wide clinical heterogeneity, A-T is often difficult to diagnose in children....

Hereditary hemorrhagic telangiectasia is a rare autosomal dominant inherited disease that is usually complicated by visceral vascular malformations. Patients harboring such malformations are at increased risk of brain abscess formation, which despite advances in diagnostic and surgical methods remains a life threatening medical emergency with high mortality and morbidity rates. In the present r...

Telangiectasia-associated hepatic fibrosis (TAHF) in a 68-year-old woman with hereditary haemorrhagic telangiectasia (HHT) is described. The patient died of oat-cell carcinoma of the lung. In addition to the structural alterations which have been described previously in HHT, the liver exhibited focal midlobular hepatocytic necrosis and tumour metastases. The possibility that treatment of HHT wa...

Considerable evidence supports a defect at the level of chromatin structure or recognition of that structure in cells from patients with the human genetic disorder ataxia-telangiectasia. Accordingly, we have investigated the activities of enzymes that alter the topology of DNA in Epstein Barr Virus-transformed lymphoblastoid cells from patients with this syndrome. Reduced activity of DNA topois...

We have documented mortality and cancer incidence in the families of 67 patients with ataxia-telangiectasia and 48 patients with xeroderma pigmentosum resident in Britain. For both diseases, parents of patients are obligate heterozygotes and grandparents have a probability of heterozygosity of 0.5. Fourteen ataxia-telangiectasia patients had died by June 30, 1986. This was a significant excess ...

1 Morrell D, Cromartie E, Swift M. Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 1986; 77: 89–92. 2 McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, et al. Evaluation and management of pulmonary disease in ataxia-telangiectasia. Pediatr Pulmonol 2010; 45: 847–859. 3 Bott L, Lebreton J, Thumerelle C, et al. Lung disease in ataxia-telangiectasia. Act...

P ulmonary arterial hypertension (PAH) is defined as a group of diseases characterised by a progressive increase in pulmonary vascular resistance leading to right heart failure and ultimately to death. Familial cases segregate as an autosomal dominant trait with low disease gene penetrance. Mutations within the bone morphogenetic protein receptor type II gene (BMPR2), coding for a receptor of t...

We have documented mortality and cancer incidence in the families of 67 patients with ataxia-telangiectasia and 48 patients with xeroderma pigmentosum resident in Britain. For both diseases, parents of patients are obligate hétérozygotes and grandparents have a probability of heterozygosity of 0.5. Fourteen ataxia-telangiectasia patients had died by June 30, 1986. This was a significant exces...