Kindler syndrome.

[kindler syndrome]

Kindler syndrome (MIM 173650 ) is an autosomal recessive genodermatosis characterized by poikiloderma , trauma-induced skin blistering , mucosal inflammation , and photosensitivity . Loss -of-function mutations in the FERMT 1 gene are the cause of Kindler syndrome . Kindler syndrome is categorized as a subtype of epidermolysis bullosa (EB ). During infancy and childhood , there is clinical overlap between Kindler syndrome and dystrophic EB . Unlike other forms of EB , Kindler syndrome is characterized by impaired actin cytoskeleton-extracellular matrix interactions and a variable plane of blister formation at or close to the dermal-epidermal junction . This article reviews clinicopathologic and molecular features of Kindler syndrome and discusses patient management .