Peutz-Jeghers症候群の臨床および組織学的研究

Clinical and Histological Study on Peutz-Jeghers Syndrome

　Peutz-Jeghers症候群は，口唇，口腔粘膜，四肢末端部の特有な色素斑と消化管ポリポージスを伴い，しかも常染色体性優性遺伝を示す疾患である．そしてその色素斑から，消化管ポリポージスを発見しうるという，いわば全身症候性疾患と考えられる疾患である¹⁾．われわれは，幼児例を含む7家系12例について全身の検索と病変の経過観察を行い，若干の知見を得たので報告する．

対　象

　対象は，過去14年間に国立がんセンターを受診した7家系12例である（Table 1）．年齢は1～40歳にわたり，男性6例，女性6例である．

　During the past 14 years, we have examined Peutz-Jeghers syndrome in 12 cases of 7 families consisting of 6 males and 6 females. The average age of the patients, ranging from 1 to 40, is 17.3 years. The result of the examination on their gastrointestinal tract and body surface was as follows.

　1) Pigmented spots, the characteristics of Peutz-Jeghers Syndrome, were observed even in the 1 year-old patient. The most frequentsites of occurrence were the lips, mucous membrane of oral cavity, fingers and soles of feet. The pigmented spots on extremities arose later as compared with those on the lips or buccal mucosa. Histological picture revealed the increase of melanocytes and melanin deposition chiefly around crista profunda intermedia.

　2) No difference was noted in the size and number between pigmented spots and polyps on the gastrointestinal tract.

　3) As the result of the gastrointestinal tract examination, the polypoid lesions were identified in 4 cases out of 9 in the stomach, 7 cases out of 9 in the small intestine and all 8 cases in the large intestine.

　4) In the case of a 12-year-old girl, the polyp grew larger by three times during one year.

　5) Sixty-five polyps in total were extracted from 5 cases by operation and endoscopic polypectomy. Histologically, most were hamartoma, in which 6 (9.2 %) mixtures of adenoma were found. One case was highly suspected as focal carcinoma.

　As the conclusion of the literary survey, Peutz-Jeghers syndrome is regarded as a systemic disease which tends to be associated with tumor formation even in organs other than the gastrointestinal tract.