Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?
Dermatol Online J 2018 Mar 15;24(3). Epub 2018 Mar 15.
Centro Hospitalar Lisboa Norte EPE, Hospital de Santa Maria, Serviço de Dermatologia, Lisboa, Portugal.
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. Read More