title: [A case of combined syndrome of juvenile polyposis and hereditary hemorrhagic telangiectasia associated with SMAD4 mutation].
abstract: A 47-year-old man was found to have abnormal findings on chest radiography. Chest computed tomography (CT) and magnetic resonance imaging (MRI) showed that he had a pulmonary arteriovenous malformation. He had experienced epistaxis when he was a junior high school student, and since then, the symptom had frequently recurred. Further, he had telangiectasia on the lips. Thus, he was given a diagnosis of hereditary hemorrhagic telangiectasia (HHT). Endoscopy revealed gastric telangiectasia, and in addition, his colon had many juvenile polyps. When he was 49 years of age, he underwent genetic analysis for HHT. A diagnosis of juvenile polyposis-HHT combined syndrome (JP-HHT) was made since a heterozygous germline 4-base deletion in exon 9 of SMAD4 was detected. To the best of our knowledge, this is the first case of JP-HHT associated with SMAD4 mutation in Japan.
authors.affiliation: Department of Gastroenterology and Hepatology, Kobe City Medical Center West Hospital. y-sumi@koe-nishishimin-hospi.jp
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Sumitomo
authors.forename: Yukimasa
authors.initials: Y
authors.lastname: Yamashita
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Itai
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Ono
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yamada
authors.forename: Yoshihide
authors.initials: Y
authors.lastname: Matsumoto
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Kimura
authors.forename: Eiji
authors.initials: E
authors.lastname: Ikeda
authors.forename: Mariko
authors.initials: M
authors.lastname: Takada
authors.forename: Sakae
authors.initials: S
authors.lastname: Mikami
mesh_terms: D006801:Humans; D044483:Intestinal Polyposis / Q000150:complications / Q000151:congenital* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000150:complications / Q000235:genetics*; D051901:Smad4 Protein / Q000235:genetics*; D013577:Syndrome; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*
chemical_list: C497796:SMAD4 protein, human; D051901:Smad4 Protein