多彩な悪性腫瘍を伴つた色素性乾皮症の兄妹例

XERODERMA PIGMENTOSUM COMPLICATED BY VARIOUS TUMORS IN BROTHER AND SISTER

緒言

　色素性乾皮症は単純劣性遺伝子によると考えられる遺伝性疾患で，先天性に光線過敏症を有し，幼児期より慢性日光性皮膚炎の像を繰返すとともに雀卵斑ないし黒子様の点状色素斑が出現し，毛細血管拡張，皮膚萎縮とともに，遂には悪性腫瘍の発生によつて，早期に死の転帰をとるもので，予後の不良なことより，種々の治療法が行なわれているものの，完全には治癒せしめ得ず，日光照射を避けるとともに発生した腫瘍は積極的に早期に切除するのが原則とされている。

　発生する悪性腫瘍の組織像は多彩であるが，基底細胞癌が最も普通にみられ，また多数，出現する。有棘細胞癌もまた普通にみられる。悪性黒色腫もそれ程，稀ではなく，多発する^1）。しかし間葉性の悪性腫瘍は稀である。これらの腫瘍が同時にみられる場合もしばしばで^2）3），一般の悪性腫瘍とかなり趣きを異にしている。

Two cases of xeroderma pigmentosum were presented in a 44-year-old Japanese man and his sister in age of 41 years. No consanguity was found in the family. In the brother, numerous dark brownish nodules with or without ulceration were seen on the face, neck and left forearm.Histologically, they were pigmented basal cell epithelioma. A pea-sized keratotic tumor on the left retroauricular region revealed an irregular downward proliferation of the squamous cells into the dermis, acantholysis and atypical squamous cells. It was compatible with transitionalfindings from senile keratosis to squamous cell carcinoma. There was another growth of cornu cutaneum on the back. In the sister, an extensive ulcerated lesion with stinking discharge was spread from the left cheek to the nasal region. Histologic studies of sections at the periphery of the ulcer revealed a large number of atypical large reticulum cell-like cells, surrounded by reticulum fibers, and partially nests of fibroblasts in irregular, intertwining hands. Thus, it was considered to be compatible with the findings of sarcoma. A tumor on the right outer canthus was histologically solid basal cell epithelioma with partial keratinization. It is noticeable that the sarcomatous components were mingled with the stroma of tumor cell nests of basal cell epithelioma. A verrucous tumor on the upper lip was biopsied partially, and it was kerato-acanthoma. The remaining portion of the tumor spontaneously vanished six weeks later. Intravenous injections of Bleomycin, topical application, local intravenous injections of 5-FU and the betatron radiation were succeedingly performed to the ulcerated tumor, resulting in no significant effects. The ulcerated tumor has kept increasing, but general condition is relatively good, and no metastasis has been observed up to date.