2002Linchuang pifuke zazhiRequires access

A Case of Hereditary Hemorrhagic Telangiectasia

Dae Sung Chang, Chang Kwun Hong, Myeung Nam Kim, Byung In Ro

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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.

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What this paper is about

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.

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Available 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.

Key concepts: Telangiectases, Telangiectasia, Medicine, Cousin, Dermatology, Disease, Lesion, Pathology

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