オマタ　タク   OMATA Taku   小俣　卓    所属   医学部 医学科（附属八千代医療センター）    職種   准教授
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	Gorlin Syndrome With Ulcerative Colitis in a Japanese Girl
掲載誌名	正式名：American journal of medical genetics. Part A 略　 称：Am J Med Genet A ISSNコード：15524825/15524825
掲載区分	国外
巻・号・頁	121A(1),pp.65-68
著者・共著者	Katsunori Fujii†*, Toshiyuki Miyashita, Taku Omata, Kazuhiko Kobayashi, Jun-ichi Takanashi, Katsunori Kouchi, Masao Yamada, Yoichi Kohno
発行年月	2003/08
概要	We present the case of a 14-year-old Japanese girl who had both Gorlin syndrome and ulcerative colitis. She had complained of blood stools for 6 months and severe scoliosis from her infancy. Physical examination revealed multiple nevi, palmar and plantar pits, jaw cysts, and calcification of the falx cerebri, leading to the diagnosis of Gorlin syndrome. Total colonoscopy revealed an edematous and spotty bleeding mucosa extending from the anus to the transverse colon. Histological examination was also compatible with ulcerative colitis. Thus, we diagnosed her as having Gorlin syndrome with ulcerative colitis. Gene analysis revealed a mutation, 1247InsT, in the human patched gene (PTCH), resulting in the truncation of PTCH protein. Since Gorlin syndrome and ulcerative colitis are rare disorders in childhood, this association is interesting, suggesting a correlation between the hedgehog signaling and intestinal disorders.
DOI	10.1002/ajmg.a.20082
PMID	12900905