Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?

Abstract excerpt

Kindler syndrome is a rare, autosomal recessive genodermatosis, caused by mutations in the FERMT1 gene. It is thought to be primarily a skin disease, but other organs may also be involved. We report a case of a novel mutation of FERMT1 gene in a patient with a probable new phenotype of Kindler syndrome, including colitis and primary sclerosing cholangitis. A 42-year-old man, born to first cousin parents, was...

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