Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the skin.

Etiology

 Loss-of-function mutations in the KIND1 gene encoding kindlin-1. Kindlin-1 is a human homolog of the Caenorhabditis elegans protein UNC-112, a membrane-associated structural/signaling protein that has been implicated in linking the actin cytoskeleton to the extracellular matrix. (#12789646#)

References

 Ashton GH. Kindler syndrome. Clin Exp Dermatol. 2004 Mar;29(2):116-21. PMID: #14987263#