Poikiloderma of Kindler

Kindler syndrome


Type of disease: Rare conditions

Kindler syndrome is a rare inherited disorder that affects the skin. This condition is characterized by skin blistering (eg, dystrophic epidermolysis bullosa), increased sensitivity to light (photosensitivity), patchy discoloration of the the skin and widespread skin breakdown (together known as poikiloderma, which is also found in individuals with Rothmund-Thompson syndrome).  Kindler syndrome is caused by mutations in the FERMT1 gene (also called the KIND1 gene) and is inherited in an autosomal recessive manner.  Treatment for this condition consists of avoiding injury to the skin, limiting sun exposure, and carefully tending to blisters (often with antibiotics).
Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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