We observed two sisters with ataxia telangiectasia, one of whom developed an atypical subacute lymphocytic leukemia characterized by atypical lymphocytes and absence of palpable lymphadenopathy or hepatosplenomegaly. The lack of organomegaly in this patient may have been due to the underlying ataxia telangiectasia, which was associated with lymphoid hypoplasia. Cytogenetic studies showed a mark...

We used a modified colony survival assay to measure the sensitivity to ionizing radiation of more than 50 lymphoblastoid cell lines from normal individuals and from patients with ataxia-telangiectasia, Nijmegen breakage syndrome variants, and X-linked agammaglobulinemia. All of these disorders are associated with an increased frequency of cancer. Lymphoblastoid cell lines from patients with ata...

BACKGROUND Treatment of progressive disseminated essential telangiectasia and erythrosis interfollicularis colli by flashlamp pulsed dye laser frequently results in a mottled appearance and often leads to hypo- or hyperpigmentation after treatment. Furthermore, treatment is time-consuming due to the small spot size. OBJECTIVE To report the successful removal of thin vessels in patients with t...

Ataxia telangiectasia (AT) is a rare genetic disease, still incurable, resulting from biallelic mutations in the ataxia telangiectasia-mutated (ATM) gene. Recently, short term treatment with glucocorticoid analogues improved neurological symptoms characteristic of this syndrome. Nevertheless, the molecular mechanism involved in glucocorticoid action in AT patients is not yet known. Here we desc...

Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three generations were affected by this disorder. Our index case is a 12-year-old female child, born of second degree consanguineous marriage diagno...

Introduction Hereditary hemorrhagic telangiectasia (HHT, M. Osler) is an autosomal-dominant hereditary disease that can lead to the development of arteriovenous malformation and skin mucous membranes. The leading symptom epistaxis, severity which vary greatly from patient patient. Therapy only symptomatically oriented. In addition surgical medicinal therapy approaches, adequate care nasal mucos...

Osler-Weber-Rendu disease (OWRD) or Hereditary Hemorrhagic Telangiectasia (HHT) is a rare autosomal dominant disorder that causes muco-cutanesous and visceral vascular dysplasia and results in increased tendency for bleeding [1-4]. Patients with HHT may present with variety of symptoms and management differs accordingly. Epistaxis is the most common symptom of HHT and mucocutaneous telangiectas...

The sensitivity to x-ray inactivation of cultured skin fibroblasts from clinically confirmed and suspected cases of ataxia telangiectasia was compared with that of cultures from normal subjects. The results confirm previous observations of an association between ataxia telangiectasia and enhanced in vitro radiosensitivity, and also suggest that clonal survival of x-irradiated cultures of skin f...

CASE DESCRIPTION Five-year-old female patient with hereditary hemorrhagic telangiectasia. CLINICAL FINDINGS Deterioration of cardiopulmonary function with higher oxygen requirements secondary to pulmonary arteriovenous shunts, epistaxis. TREATMENT AND OUTCOME The patient was treated with the monoclonal antibody bevacizumab, which inhibits the vascular endothelial growth factor, with good cl...