Kindler Syndrome

Kindler syndrome is a rare subtype of EB caused by mutations in the kindling-1 gene. It is an autosomal recessive disease that usually presents during infancy with blistering confined to the hands and feet in association with photosensitivity, or extreme sensitivity to sunlight with tendency to sunburn.

With age, skin blistering often improves, but photosensitivity does not, resulting in skin discoloration (lightening and darkening) with thinning and wrinkling and the appearance of small, superficial blood vessels (telangieactasia). Together, these features are called poikiloderma, and they occur most commonly on the hands and feet. Frequent dental caries and periodontitis with gingivitis are common. Involvement of the intestines/gastrointestinal tract, eyes and genitourinary tract may occur. Keratoderma of the hands and feet, nail dystrophy and pseudosyndactyly have been reported. The development of squamous cell carcinoma of the skin appears to be more common.