遺伝性出血性毛細血管拡張症（Osler病）の4例

FOUR CASES OF HEREDITARY HEMORRHAGIC TELANGIECTASIA (OSLER)

I．はじめに

　遺伝性出血性毛細血管拡張症はOsler病あるいはRender^1）—Osler^2）—Weber^3）病とも呼ばれ，Triasとして，頻回にくり返す鼻出血，皮膚および粘膜の毛細血管拡張，遺伝的発生を主徴とする疾患である。本邦では現在まで21例，20家系が報告されている。本症はあとで述べる如く，内臓諸臓器にも病変がみられ，全身的な血管形成異常性疾患として甚だ興味がある。著者らは典型的な本症の一家系を経験したので報告する。

Four cases of this disease in one family were reported, in 4 generations of this family 17 members had epistaxis.

Case 1 : A 46-year-old man has had tendency to epistaxis, telangiectasia, hematemesis and bloody feces, iron-deficiency anemia, at the age of 12, 41, 46 respectively. Skin disorder existed upperhalf of the body, especially on the face, lower lip, back of the tongue, mucous membrane of the palate, palmar surfaces of the fingers, and subungual region. Similar lesion was found also on mucous membrane of the stomach. There were three types of eruption-telangiectatic punctate vascular spider-like, and irregular retiform.

Histologic picture of the telangiectatic lesion was composed of a kind of arterio-venous shunt, which connected arteria and vein with dilated, winding vessel covered with single layer of endothelium. Connective tissue around the vessel was loose and did not have elastic fiber. This structure may be hard to contract and easy to bleed when the vessel ruptures.

Case 2 : A 40-year-old man, cousin of case 1, has had habitual epistaxis since childhood, and enanthem on the back of the tongue since 36 years of age, which has been easy to bleed. On examination, there were vascular lesions on the back of the tongue, gingiva, nasal back, fingers and palms, and upper part of the trunk.

Case 3 : A 17-year-old man, the first son of case 1, has had habitual epistaxis since 2 years of age. He had some lesions on the back of the tongue, nostrils, palms, and upper part of the trunk.

Case 4 : A 11-year-old girl, the first daughter of case 1, has had epistaxis since the age of 2. The lesions were on the back of the tongue, frenulun linguae, buccal membrane, volar and dorsal surfaces of fingers.

Statistical studies on the reported cases were performed. This disorder might be a kind of systemic vascular dysplasia.