The Assessment of Polysaccharides, Mucosubstances and Colagen IV in Kindler Syndrome

Abstract

Kindler syndrome is a rare autosomal recessive genodermatosis characterized by particular fragility of the skin and mucosa, manifesting in the appearance of bullae in minor traumas, photosensitivity, diffuse cutaneous atrophy and progressive poikiloderma. It is caused by mutations in the FERMT1 gene encoding kindlin-1. We present the case of a 12-year-old girl diagnosed with Kindler syndrome showing the classical clinical features affecting the skin, in addition to nail involvement, gingivitis, periodontitis, growth retardation, mental retardation, esophageal and anal stenosis. The histopathological examination of a cutaneous biopsy revealed the presence specific features of Kindler syndrome. Keywords: Kindler syndrome, photosensitivity, esophageal and anal stenosis, skin biopsy