不全型Peutz-Jeghers症候群の1例

Incomplete Type of Peutz-Jeghers Syndrome, Report of a Case

要旨　患者は47歳，女性．顔色不良を主訴として当科を受診し，著しい貧血を認めた．直腸・十二指腸ポリープ切除および小腸ポリープによる腸重積の手術を受けた既往歴があった．家族歴では，父が肺癌，母が胃癌で死亡．X線・内視鏡検査で胃，十二指腸，小腸および大腸に多発性の過誤腫性ポリープを認めた．小児期に口唇の色素斑を指摘されたことがあったが，成長と共に消褪し，現在，両側頰粘膜に各1個の微小色素斑を残すのみであった．また，四肢末端には色素斑は認められなかった．遺伝歴は不明で，初発例と考えられたが，色素斑および消化管ポリポーシスを認めたため，不全型Peutz-Jeghers症候群と診断した．

　A 47-year-old female was admitted to our hospital complaining of paleness. Radiologic and endoscopic examinations of gastrointestinal tract demonstrated dense distribution of polypoid lesions in the stomach, duodenum and jejunum. Some large pedunculated polypoid lesions of the duodenum were endoscopically polypectomized. Histologically, these lesions showed lobular proliferation of intestinal mucosa with tree-like extensions of smooth muscle bundles, and this finding was consistent with Peutz-Jeghers (P-J) polyposis. This patient had neither mucocutaneous pigmenation nor family history. Therefore this case was diagnosed as an incomplete type P-J syndrome. Later, this patient recollected that she had had dark brown maculae on her lips in her childhood. We found two small melanotic pigmentations on her buccal mucosa by a careful reexamination of her buccal mucosa. Follow-up barium and endoscopic examinations revealed polypoid lesions in the colon. Endoscopic polypectomy of these lesions was performed and histological findings disclosed hamartomatous polyps of the colon. We conclude that complete type (with heredity, mucocutaneous pigmentations and gastrointestinal polyposis), incomplete type of P-J syndrome (with two of the three criteria), and P-J type polyps (with only gastrointestinal polyposis) should be considered separately.