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Gorlin syndrome with ulcerative colitis in a Japanese girl
Author(s) -
Fujii Katsunori,
Miyashita Toshiyuki,
Omata Taku,
Kobayashi Kazuhiko,
Takanashi Junichi,
Kouchi Katsunori,
Yamada Masao,
Kohno Yoichi
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20082
Subject(s) - ulcerative colitis , medicine , pathology , gastroenterology , dermatology , disease
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. © 2003 Wiley‐Liss, Inc.