A Case of Hereditary Hemorrhagic Telangiectasia
Dae Sung Chang, Chang Kwun Hong, Myeung Nam Kim, Byung In Ro
Abstract
Dae Sung Chang, Chang Kwun Hong, Myeung Nam Kim, Byung In Ro
Abstract
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.
OpenAlex reports 1 citations for this work. Citation counts describe recorded attention and do not establish research quality.
A contribution statement is not available in the OpenAlex record.
Method details are not available in the OpenAlex metadata.
Findings are not separately available in the OpenAlex metadata.
Limitations are not available in the OpenAlex metadata.
Application details are not available in the OpenAlex metadata.
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.
Key concepts: Telangiectases, Telangiectasia, Medicine, Cousin, Dermatology, Disease, Lesion, Pathology