Kindler syndrome in a Saudi kindred

We report a large consanguineous Saudi-Arabian pedigree containing 11 individuals with the autosomal recessive genodermatosis, Kindler syndrome. Three affected cases died in infancy but the remaining eight had signs of photosensitivity, generalized poikiloderma, webbed fingers, loss of dermatoglyphics and nail dystrophy. The majority also had oral involvement with bleeding gums. Additional features seen in some cases included pseudoainhum of the toes, sclerotic bands on the wrists and hand deformities. The aetiology of Kindler syndrome is not yet known, but the underlying defect leads to both cutaneous and oral inflammation, along with photosensitivity and scarring.