Gorlin syndrome with ulcerative colitis in a Japanese girl

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.

Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome

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Identification of a novel polymorphism involving a CGG repeat in the PTCH gene and a genome-wide screening of CGG-containing genes

“…Among 14 patients with NBCCS, PTCH mutations were found in 11. Some of the mutations have already been reported (Fujii et al 1999, Fujii et al 2003a, Fujii et al 2003b) and some will be reported elsewhere.…”

Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review

“…The most common type of PTCH1 mutation is an insertion or deletion that causes a frameshift and leads to premature termination of the PTCH1 translation. We have identified diverse PTCH1 mutations in Japanese Gorlin syndrome patients . Despite exhaustive analysis, PTCH1 mutation was not able to be identified in some patients.…”