KINDLER'S SYNDROME - A CASE REPORT
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
Keyword :Kindler's syndrome
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