No abstract available.
Activins* ; Humans ; Telangiectasia, Hereditary Hemorrhagic* ; Telangiectasis*

No abstract available.
Activins* ; Humans ; Telangiectasia, Hereditary Hemorrhagic* ; Telangiectasis*

Objective: To report various intraocular conditions that mimic retinoblastoma. Methods: A review was conducted of eyeballs enucleated for suspected retinoblastoma between 2003 and 2007, and referred for histopathological confirmation. The slides of cases not histopathologically consistent with the diagnosis of retinoblastoma were reexamined. Clinical records and results of neuroimaging studies were reviewed retrospectively Results: Of the 197 eyeballs examined, 182 (92%) proved to be retinoblastoma on histological exam, while 15 (8%) from 13 patients were pseudoretinoblastomas. The age of patients ranged from 4 months to 9 years, with a mean of 35.5 months. The etiologies of the pseudoretinoblastomas were as follows: persistent primary hyperplastic vitreous (PHPV) in 5 eyeballs (33%); retinal dysplasia in 3 (20%); Coats’disease, phthisis bulbi, and vitreous hemorrhage with retinal detachment in 2 (13%) each; and granulomatous endophthalmitis in 1 (8%). Conclusion The 8% erroneous diagnosis was lower than the published rates of 10 to 20%. The common etiologies of pseudoretinoblastoma were similar to those reported.
Retinoblastoma ; Retinal Telangiectasis ; Retinal Dysplasia

Pulmonary arteriovenous fistula is an uncommon capillary abnormality. It may be accompanied by neurological complications such as cerebral abscess and be associated with or without hemorrhagic telangiectasia. We recently experienced a case of cerebral abscess with pulmonary arteriovenous fistula(PAVF), which was not associated with hereditary hemorrhagic telangiectasia. We report this case with review of the related literature.
Arteriovenous Fistula* ; Brain Abscess* ; Capillaries ; Telangiectasia, Hereditary Hemorrhagic ; Telangiectasis

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber disease, is a rare autosomal dominant disorder characterized by hemorrhage from nasal, mucocutaneous and gastrointestinal telangiectasia, in addition to vascular anomalies in other organs, particularly in the pulmonary, hepatic and cerebral circulations. The most common clinical manifestations are epistaxis and gastrointestinal bleeding. Endoscopic band ligation is effective for non-variceal, non-ulcer bleeding. It has the advantage of ease of use and is relatively inexpensive. We report a case of endoscopic band ligation therapy for gastric bleeding in patient with Rendu-Osler-Weber disease.
Epistaxis ; Hemorrhage* ; Humans ; Ligation* ; Telangiectasia, Hereditary Hemorrhagic* ; Telangiectasis

Hereditary hemorrhagic telangiectasia (HHT, also called Osler-Weber-Rendu Disease) is a rare systemic fibrovascular dysplasia characterized by recurrent epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations (AVMs). HHT is an autosomal dominant disease with a prevalence of 1 in 5,000~8,000. Recurrent epistaxis is often the first and most common manifestation, and about 30% of patients reveal pulmonary AVM. Presently, we report a familial case of HHT. A 61-year-old male with asymptomatic multiple pulmonary AVMs was successfully treated with embolization. His older brother who presented with recurrent epistaxis and multiple telangiectasias was treated with laser ablation. Their pedigree revealed a family history of recurrent epistaxis.
Arteriovenous Malformations ; Epistaxis ; Humans ; Laser Therapy ; Male ; Middle Aged ; Pedigree ; Prevalence ; Siblings ; Telangiectasia, Hereditary Hemorrhagic ; Telangiectasis

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is a rare autosomal dominant disease characterized by heterogenous multisystemic dysplasia of the vascular tissue. Prevalence of HHT is 1 in 5,000~8,000. HHT commonly presents with recurrent epistaxis, but may have more serious consequences if visceral vascular beds are involved. Approximately 30~50% of HHT cases also present with pulmonary arteriovenous malformation (PAVM). Spontaneous hemothorax is less common, and PAVM is one of the causes leading to hemothorax. Our case involved an 18-year-old female who had suddenly developed right chest pain. The reason for chest pain was due to right spontaneous hemothorax accompanied by PAVM in the right middle lobe. The patient was additionally diagnosed with HHT upon examination of her family history, specifically through her mother's symptom that included recurrent epistaxis and mucosal telangiectasia.
Adolescent ; Arteriovenous Malformations ; Chest Pain ; Epistaxis ; Female ; Hemothorax ; Humans ; Prevalence ; Telangiectasia, Hereditary Hemorrhagic ; Telangiectasis

Hereditary hemorrhagic telangiectasia, also known as Osler-Rendu-Weber disease, is an autosomal dominant hereditary disorder leading to easily bleeding telangiectases on skin and mucosal surfaces, and it is associated with the presence of arteriovenous malformations in multiple organ systems. It is usually recognized as classic triad of telangiectasia, recurrent epistaxis and a family history of the disorder. We report herein a case of hereditary hemorrhagic telangiectasia in a 12-year-old male who had episodes of recurrent epistaxis and compatible telangiectatic skin lesion. And his grandfather, father, uncle and cousin also had similar punctiform, linear and spider-like telangiectatic lesions.
Arteriovenous Malformations ; Child ; Epistaxis ; Fathers ; Hemorrhage ; Humans ; Male ; Skin ; Telangiectasia, Hereditary Hemorrhagic* ; Telangiectasis

Hereditary hemorrhagic telagiectasia (HHT), which is characterized by the classic triad of mucocutaneous telangiectases, arteriovenous malformations (AVMs) and inheritance, is an autosomal dominant disorder. The characteristic manifestations of HHT are all due to abnormalities of the vascular structure. This report deals with the case of a 14-year-old girl with typical features of HHT that include recurrent epistaxis, mucocutanous telangiectases, pulmonary and cerebral AVMs and a familial occurrence.
Adolescent ; Arteriovenous Malformations ; Epistaxis ; Female ; Humans ; Inheritance Patterns ; Recurrence ; Telangiectasia, Hereditary Hemorrhagic* ; Telangiectasis ; Wills

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease, is a rare autosomal dominant vascular disorder involving arteriovenous malformation. HHT is characterized by recurrent epistaxis, cutaneous telangiectasia, and visceral arteriovenous malformations. Hepatic arteriovenous malformation can lead to high output heart failure. We report a case of hereditary hemorrhagic telangiectasia patient who complained dyspnea and edema on both lower extremity.
Arteriovenous Malformations ; Dyspnea ; Edema ; Epistaxis ; Heart Failure* ; Heart* ; Humans ; Lower Extremity ; Telangiectasia, Hereditary Hemorrhagic* ; Telangiectasis