Kindler Syndrome

Kindler syndrome is a rare type of EB that results from mutations in the FERMT1 gene. From early infancy, people with Kindler syndrome have skin blistering, particularly on the backs of the hands and the tops of the feet. Affected individuals also develop thin, papery skin starting on the hands and feet and later affecting other parts of the body. Kindler syndrome can also cause people to be highly sensitive to ultraviolet (UV ) rays from the sun and to sunburn easily.

Kindler syndrome can also affect the moist lining (mucosae) of the mouth, eyes, esophagus, intestines, genitals, and urinary system, causing these tissues to be very fragile and easily damaged. Affected individuals commonly develop severe gum disease that can lead to early tooth loss. The moist tissues that line the eyelids and the white part of the eyes (the conjunctiva) can become inflamed (conjunctivitis), and damage to the clear outer covering of the eye (the cornea) can affect vision. Narrowing (stenosis) of the esophagus, which is the tube that carries food from the mouth to the stomach, causes difficulty with swallowing that worsens over time. Kindler syndrome increases the risk of developing a form of cancer called squamous cell carcinoma.