Oral communication, GL4

Official XXIst International Pigment Cell Conference website - 21-24 Sept 2011, Bordeaux - France | updated: September 04 2011

Keratin disorders associated with abnormal pigmentation: clinical and molecular insights

Keratin disorders have been traditionally considered to manifest mainly with abnormal cornification and/or skin blistering. Over the past years, a growing number of inherited clinical entities featuring prominent pigmentation abnormalities have been shown to be caused by mutations in keratin genes. Among these disorders are worth mentioning Epidermolysis with Mottled Pigmentation, Dowling-Degos disease and Naegeli-Franceschetti-Jadassohn syndrome. The identification of the molecular basis of these various genodermatoses has revealed that the role of keratins in the epidermis extends to various and critical non-mechanical functions.

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