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Kindler Syndrome
2006
Archives of Dermatology
Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal keratinocytes. Observations: We describe a child with the neonatal diagnosis of epidermolysis bullosa simplex who
doi:10.1001/archderm.142.5.620
pmid:16702500
fatcat:zlmhfkucorc2nf3dvk3hnbwrwi