Kindler Syndrome in Depth

Kindler Syndrome is a rare form of Epidermolysis Bullosa due to the lack of production of the protein kindilin-1 in the FERMT1 gene.  Kindler syndrome is an autosomal recessive disorder.

 

common characteristics:

• usually present at birth
• blisters on the tops of the feet and backs of the hands
• development of paper thin skin and small clusters of blood vessels just under the skin
•  high sensitivity to UV light
• severely fragile mucosa of the eyes, mouth, esophagus, genitals, intestines and urinary tract
• gum disease is common and can lead to tooth loss
• vision can be affected from frequent damage to the eye lids and cornea
• narrow of the esophagus is common
• inflammation to the colon and urethra is common 
• an increased risk for squamous cell carcinoma on the skin, lips and oral mucosa.