Hyalinosis cutis et mucosaeの1例

HYALINOSIS CUTIS ET MUCOSAE

I．緒言

　本症は劣性遺伝する比較的稀有なる疾患で，生来性あるいは幼少の頃より発症し，臨床的には全身各所の皮膚に黄白色丘疹，淡紅色ないし紫褐色の疣贅状結節，痘瘡様あるいは痤瘡様瘢痕，魚鱗癬様皮疹，脱毛症を生じ，また粘膜疹として上気道に白色ないし黄白色の板状，結節状，ポリープ状浸潤を来し，歯牙異常や特異な嗄声を発するなど極めて多彩且つ特異な症状を呈する。

　本症に関しては，1908年スイスの耳鼻科教授Siebenmann^1）がその綜説"Über Mitbeteiligung der Schleimhaut bei allgemeiner Hyperkeratose der Haut"の中で，Hyperkeratosis cutis universalisと上気道粘膜のKeratosisを来した19歳女子の患者について述べたのが恐らく本症の第1例であろう。その後はEberhartinger u．Niebauer^30）およびGrosfeld^22）の統計150例に，我々が文献的に渉猟した20例を加えた170例の報告をみる。

　An 18-year-old woman has had typical mucocutaneous findings of this disease since childhood. She had no abnormalities at birth, but suffered from pneumonia at the age of one. Since then she has been always having some cutaneous disorders.

　The skin over the entire body surface was rough with enlarged follicular openings and small scars indistinguishable from those of variola. There were small yellowish-white papules on the face, especially on the forehead and upper and lower eyelids, verrucous nodules in the cubital and patellar regions and on the dorsa of the hands. Her voice was severely hoarse. The lips, oral mucous membrane, tongue and laryngo-pharyngeal mucous membrane were occupied with firm, uneven, pale-red infiltration.

　Her parents and maternal grandparents were cousins respectively.