Kindler disease

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

 Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, Bruckner-Tuderman L, Fine JD, Burgeson R, Kon A, McGrath JA, Christiano AM, Uitto J, Nishikawa T. Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Dermatol. 1997 Sep;133(9):1111-7. PMID: 9301588