遺伝性出血性毛細血管拡張症の1例―Osler病の1例

A Case of Hereditary Hemorrhagic Telangiectasia

　オスラー病¹⁾は遺伝性出血性毛細血管拡張症とも呼ばれ，顔面，指腹などの皮膚，あるいは鼻粘膜，舌，口唇，口腔，消化管粘膜に好発する，毛細管拡張および出血を主徴とする遺伝性疾患である．

　本邦では，1942年大久保²⁾の報告以来，25家系内外の記載がみられるが，消化管の内視鏡検査がなされた報告は，野村¹³⁾ほか数例にすぎない．

　Hereditary hemorrhagic telangiectasia is commonly known by teleangiectasia on the skin or mucus membrane, hemorrage and familial incidence. Only about 25 families with this disease have been reported in our country up to 1971, and in only about five cases have been reported its endoscopical findings.

　The case here presented is a man 42 years of age complaining of headache, palpitation and pale skin. A few, red spotted or meshy telangiectasia were present on the face, lower lip, tongue. Gastroscopically, spotted or irregular-shaped reddish maculae, about 1 to 5 mm in size, were seen disseminated from the region of the mid-body to pylorus. No pathological findings were recognized in the esophagus, nor did x-ray of the stomach reveal any specific findings.

　His daughter also had similar telangiectasia on the face, tongue, lips and so on.

　Although hereditary telangiectasia is a disease of very rare occurrence, its endoscopic view of the stomach is so specific that it is not so difficult to differentiate it from either hemorrage or hemangioma of the stomach.