Kindler syndrome.
Kindler syndrome (MIM173650) is an autosomal recessive genodermatosis characterized by poikiloderma, trauma-induced skin blistering, mucosal inflammation, and photosensitivity. Loss-of-function mutations in the FERMT1 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.
Lai-Cheong
Joey E
JE
Division of Genetics and Molecular Medicine, St John's Institute of Dermatology, King's College London, Floor 9 Tower Wing, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
McGrath
John A
JA
D001284:Atrophy; D001768:Blister / Q000378:metabolism / Q000473:pathology; D020405:Dermis / Q000378:metabolism / Q000473:pathology*; D004817:Epidermis / Q000378:metabolism / Q000473:pathology*; D004820:Epidermolysis Bullosa / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D006801:Humans