BACKGROUND Hereditary hemorrhagic telangiectasia is characterized by angiodysplastic lesions. So far, knowledge is limited on the vascular architecture and rate of occult manifestation of telangiectases. Contact endoscopy has not been used for this task before. METHODS Eleven patients with hereditary hemorrhagic telangiectasia were examined with contact endoscopy to identify occult telangiect...

Three young patients with transient or intermittent focal neurological signs suggesting brain stem involvement are described, in whom high field MRI showed focal areas of hyperintensity in T2 weighted spin echo images, hypointensity in T2* weighted gradient echo images, and enhancement in postcontrast T1 weighted images consistent with unruptured capillary telangiectasia of the brain stem. The ...

Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominantly inherited vascular disease characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in visceral organs. HHT is predominantly caused by mutations in ENG and ACVRL1, which both belong to the TGF-β signalling pathway. The exact mechanism of how haploinsufficiency of ENG and ACVRL1 leads to ...

Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs) in particular locations described in consensus clinical diagnostic criteria published in 2000. Two genes in the transforming growth factor-beta (TGF-β) signaling pathway, ENG and ACVRL1, were discovered almost two decades ago, and mutations in these genes ha...

Background. Dermoscopy provides additional criteria for the diagnosis of nonpigmented skin lesions. Case Report. An 80-year-old woman presented with an isolated, firm, dome-shaped, erythematous nodule with surface telangiectasia on her forehead. Dermoscopy showed areas of background pink coloration with arborizing telangiectasia, blue dots/globules, and ulceration. Histologic analysis revealed ...

BACKGROUND AND PURPOSE Brain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pedi...

BACKGROUND AND OBJECTIVE The optimal parameters for treatment of leg telangiectasia with a pulsed laser are investigated. STUDY DESIGN/MATERIALS AND METHODS The Monte Carlo method is used to calculate the light penetration and absorption in the epidermis, dermis, and the ectatic blood vessel. Calculations are made for different diameters and depths of the vessel in the dermis. In addition, th...

Osler-Weber-Rendu syndrome (OWRS) is a rare hereditary, autosomal dominant disease characterized by a local angiodysplasia. Its clinical characteristics are vascular hamartomas of the skin and oral mucosa, arteriovenous malformations in the lungs, liver, kidney and brain, and episodes of epistaxis. The oral lesions, which become apparent through hemorrhagic telangiectasia, may be the first sign...

BACKGROUND Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. CASE PRESEN...

Recent published studies evaluating the long-pulsed 1064 nm Nd:YAG laser for superficial cutaneous vascular lesions have limited subjects and optimal treatment parameters have not been established. To determine the efficacy and safety of the long-pulsed 1064 nm Nd:YAG laser on superficial cutaneus vascular lesions and analyse retrospectively our experience of a 3-year period are the aims of thi...