What is Kindler’s syndrome?

Kindler’s syndrome was added as a subtype of EB, in 2008, with the release of the Third International Consensus Meeting on EB. Prior to this, it was considered a separate mechanobullous disease. Kindler’s syndrome is an autosomal recessive form of EB that is characterized by poikiloderma, blistering in areas of trauma, mucosal inflammation, and photosensitivity. Like some forms of EB simplex, the blistering in Kindler’s syndrome tends to improve with age. The cause of Kindler’s syndrome is a loss of function mutation in the FERMT1 gene. This mutation causes an alteration in the actin cytoskeleton-extracellular matrix and results in a variable plane of blister formation at or close to the DEJ. Because of the severe mucosal inflammation, patients with Kindler’s syndrome have significant dental issues as well as anal stenosis and phimosis.


Burch JM, Fassihi H, Jones CA, et al: Kindler syndrome: a new mutation and new diagnostic possibilities, Arch Dermatol 142:620–624, 2006.

Lai-Cheong JE, McGrath JA: Kindler syndrome, Dermatol Clin 28(1):119–124, 2010.