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Gorlin syndrome with ulcerative colitis in a Japanese girl
Katsunori Fujii1, Toshiyuki Miyashita, Taku Omata
1Department of Pediatrics, Graduate School of Medicine, Chiba University, Chiba, Japan. kfujii@faculty.chiba-u.jp
Insights
This case study details a rare co-occurrence of Gorlin syndrome and ulcerative colitis in a young patient. The findings suggest a potential link between hedgehog signaling pathways and intestinal disorders.
Area of Science:
- Genetics
- Gastroenterology
- Pediatrics
Background:
- Gorlin syndrome, characterized by nevi, pits, cysts, and calcifications, is a rare genetic disorder.
- Ulcerative colitis is a chronic inflammatory bowel disease affecting the colon.
- The simultaneous occurrence of these rare conditions in a pediatric patient is highly unusual.
Observation:
- A 14-year-old Japanese girl presented with symptoms of blood stools and severe scoliosis.
- Clinical examination confirmed features consistent with Gorlin syndrome.
- Colonoscopy revealed inflammatory changes indicative of ulcerative colitis.
Findings:
- The patient was diagnosed with both Gorlin syndrome and ulcerative colitis.
- Genetic analysis identified a PTCH gene mutation (1247InsT) in the patient.
- The mutation resulted in a truncated PTCH protein, a key component of the hedgehog signaling pathway.
Implications:
- This case highlights a rare association between Gorlin syndrome and ulcerative colitis.
- The findings suggest a potential role for hedgehog signaling in the pathogenesis of intestinal disorders.
- Further research may explore therapeutic targets within the hedgehog pathway for inflammatory bowel diseases.
Abstract:
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.