Kindler syndrome

Disease Overview

Kindler syndrome is a rare type of epidermolysis bullosa, a group of inherited conditions that cause fragile and blistering skin. Kindler syndrome causes skin to blister beginning in early infancy. Other symptoms may include increased sensitivity to light (photosensitivity); patchy discoloration of the the skin and small clusters of blood vessels (poikiloderma); thickening and hardening of the skin on the palms of the hands and soles of the feet (hyperkeratosis); and an increased risk for squamous cell carcinoma. The condition can also affect the moist lining of the mouth, eyes, esophagus, intestines, genitals, and urinary system. Kindler syndrome is caused by mutations in the FERMT1 gene (also called the KIND1 gene) and is inherited in an autosomal recessive manner. Treatment consists of avoiding skin injury, limiting sun exposure, and carefully tending to blisters (often with antibiotics).[1053][11822]

Synonyms

• Poikiloderma, hereditary acrokeratotic
• Bullous acrokeratotic poikiloderma of kindler and weary
• Poikiloderma, congenital, with bullae, weary type
• Congenital bullous poikiloderma
• Poikiloderma of Kindler