Gardner症候群の1例

Gardner's Snydrome, a Case Report

　1951年Gardnerは大腸ポリポージスに全身骨格，とくに下顎骨および頭蓋骨に発生する多発性骨腫（hard tumor）と体表の軟部腫瘍（soft tumor）の両者が共存する症例を報告し，1958年Smithはこの3主徴を合併する症例をGardner症候群（以下本症と略）と呼称した．本症は遺伝性多発性腫瘍素因が原因として推測される，きわめて稀な疾患であるが，最近著者らも典型的な本症を経験したので若干の文献的考察を加えて報告する．

　Recently we have come across a very interesting case in a man 48 years of age who visited our hospital with chief complaints of pain and bleeding upon defecation along with prolapse of the anus. The patient had undergone in his childhood extirpation of a tumor in the left lateral part of the neck. Since the age of 6 multiple hard tumors had developed on his head and at about 19 a tumor had come out on the lateral side of the lower lip. Since about the age of 34 he had frequent episodes of diarrhoea and melena. The afore-mentioned chief complaints grew worse recently.

　The findings obtained were as follows: (1) carcinoma of the rectum together with a host of both pedunculated and sessile polyps scattered about over the entire colon; (2) a number of hemispheric bony tumors reaching over the entire area of the skull, localized hypertrophy of the bone below the mental tubercle of the lower mandibles and undulating elevation, relatively of rough structure, extending over the whole length of the median face of the left tibia; (3) a tumor on the left side of the lower lip and another on the left side of the neck corresponding to the site of the former operational scar; and (4) atrophy and deformity of most of the nails of the feet. These findings led us to the diagnosis of a typical case of Gardner's syndrome. Tentatively we performed amputation of the rectum, but sooner or later total colectomy is to be carried out.

　In 1951 Gardner had noticed that various tumors were to be seen outside the digestive tract among those cases that were diagnosed as familial polyposis of the colon, and he reported cases in which hard and soft tumors were coexistent. Later, those cases that combined 3 characteristics were designated as Gardner's syndrome. This is of a rare occurrence even when atypical cases are included. Sometimes it is hard to distinguish it from familial polyposis of the colon, Turcot's syndrome, Zanca's syndrome, Cronkhite-Canada's syndrome, juvenile polyposis or Peutz-Jegher's syndrome. As the present syndrome is genetically induced, early diagnosis and treatment is to be looked for in the line of the family tree.