Kindler syndrome: report of three cases in a family and a brief review

Abstract

Background: Kindler syndrome is an autosomal recessive disorder with neonatal blister formation, photosensitivity, atrophy, abnormal pigmentation, and fragility of the skin. Skin atrophy is more prominent on the extremities and the skin manifestations improve with age.

Methods: We report three cases in a family which present the clinical and pathologic manifestations of Kindler syndrome.

Results: All of the three cases reported here present skin changes on the extremities, face, and neck, including hyper- and hypopigmentation, atrophy, and telangiectasia. The condition in these cases started soon after birth. Two of these cases also had mucosal involvement.

Conclusion: Increased photosensitivity and sunburn after minimal sun exposure should lead physicians to examine the skin for poikiloderma and the mouth for fragility of the gums, periodontitis and other associated findings. Also, patients should be questioned about any history of blister formation as well as family history.