Article
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.
Archives of dermatology - 1 Dec 2006
Sadler Elke, Klausegger Alfred, Muss Wolfgang, Deinsberger Ursula, Pohla-Gubo Gabriele, Laimer Martin, Lanschuetzer Christoph, Bauer Johann W, Hintner Helmut
Abstract excerpt
BACKGROUND: Kindler syndrome (online Mendelian Inheritance in Man No. 173650) is an autosomal recessive genodermatosis characterized by acral trauma-induced blistering that improves with age and by progressive poikiloderma in later life. Other clinical features include photosensitivity, webbing of the fingers and toes, nail dystrophy, periodontal disease, and mucosal alterations. Aside from esophageal or anal...
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