KINDLER'S SYNDROME - A CASE REPORT
Journal: University Journal of Medicine and Medical Specialities (Vol.3, No. 4)Publication Date: 2017-07-13
Authors : MOHANA SUNDARI;
Page : 86-88
Keywords : Kindler's syndrome;
Abstract
Abstract: Kindlers syndrome is an autosomal recessive disorder characterized by blistering in infancy, photosensitivity, poikiloderma and mucosal inflammation. It is categorized as a subtype of Epidermolysis bullosa. Mutation of FERMT1 gene resulting in impaired actin cytoskeleton and extracellular matrix network results in the clincopathological features. We report a case of a 13 year old boy, 1st born of 30 consanguineous parents with history of blistering and mottled pigmentation since 6 months of age, photosensitivity and palmoplantar keratoderma. This case is presented for its rarity
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Last modified: 2017-08-21 18:48:08