Gorlin syndrome with ulcerative colitis in a Japanese girl.
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.
Fujii
Katsunori
K
Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan. kfujii@faculty.chiba-u.jp
Miyashita
Toshiyuki
T
Omata
Taku
T
Kobayashi
Kazuhiko
K
Takanashi
Jun-ichi
J
Kouchi
Katsunori
K
Yamada
Masao
M
Kohno
Yoichi
Y
D000293:Adolescent; D000595:Amino Acid Sequence; D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000235:genetics*; D001483:Base Sequence; D003093:Colitis, Ulcerative / Q000150:complications / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006801:Humans; D007564:Japan; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010641:Phenotype; D011956:Receptors, Cell Surface; D017422:Sequence Analysis, DNA
D008565:Membrane Proteins; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface