一家系内に発症した色素性乾皮症の2例

TWO CASES OF XERODERMA PIGMENTOSUM IN ONE FAMILY TREE

I．緒言

　色素性乾皮症は劣性遺伝性疾患であり，その大多数は幼児期に発症し，20歳以前に不幸な転帰をとる。しかし稀には成人に発症し，高齢まで生存するものもある。われわれが経験した第1例は72歳の女子であり，第2例は同家系内の従兄妹を両親とする16歳の少年である。ここに両症例を報告するとともに，第1例の下口唇にみられた腫瘍が基底細胞癌の上に生じた毛細血管拡張性肉芽腫の興味ある所見を呈したので，併せてその詳細を述べ，発生病理につき若干の考按を加えたい。

Two cases of xeroderma pigmentosum in one family were reported.

Case 1 : A 72-year-old woman has had pigmented spots resembling freckles and depigmented fleckles on the exposed areas since her childhood. At her first visit, she had small verrucous nodules on the face ten and more in number and the histologic picture of which was basal cell epithelioma. They were cured by soft x-ray irradiation. She also had a rapid growing and easily bleeding tumor on the lower lip. Its histologic diagnosis was granuloma teleangiectaticum with basal cell epithelioma. It was removed surgically.

The eldest sister of the patient and a boy of the relative (case 2) had the same disease.

Case 2 : A 16-year-old boy, a member of the same family tree of case 1, has been easy to get sunburn since his childhood and has had diffuse pigmentation and fleckles since 7 years of age. No malignant tumor was found. His parents were cousins.