Kindler Sendromu: Olgu Sunumu

Kindler sendromu nadir görülen genetik bir hastalýktýr. Doðumdan itibaren görülmeye baþlayan akral büller ve fotosensitiviteyi, zamanla progresif poikiloderma ve deri atrofisi izler. Kindler sendromu bazal keratinositlerdeki aktin hücre iskeletinin ekstrasellüler matrikse tutunmasýný saðlayan kindlin-1 proteinini kodlayan KIND-1 genindeki mutasyon sonucu geliþir. Burada ailesinde benzer lezyonlar olmayan; yaygýn poikiloderma, parmak aralarýnda perdelenme, palmoplantar hiperkeratoz, týrnak distrofisi, periodontit ve ektropiyonu bulunan, öyküsünde erken infantil dönemde bül formasyonu tarif eden 18 yaþýnda bir bayan olgu sunulmaktadýr.

A Case of Kindler Syndrome

Kindler syndrome is a rare genetic disorder, acral blistering and photosensitivity appears from birth, followed by progressive poikiloderma and cutaneous atrophy. Kindler syndrome is caused by mutations in KIND-1 gene encoding the protein kindlin-1 which is involved in the attachment of the actin cytoskeleton to the extracellular matrix basal keratinocytes. Here we report a 18-year-old woman presented with generalized poikiloderma, webbing of the toes and fingers, palmoplantar hyperkeratosis, nail dystrophy, periodontitis and ectropione with a history of blister formation in early infant.