Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",) is a rare

congenital disease A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can r ...

of the skin caused by a mutation in the KIND1 gene.

Symptoms and signs

Infants and young children with Kindler syndrome have a tendency to blister with minor trauma and are prone to sunburns. As individuals with Kindler syndrome age, they tend to have fewer problems with blistering and photosensitivity. However, pigment changes and thinning of the skin become more prominent. Kindler syndrome can affect various mucous tissues such as the mouth and eyes, which can lead to other health problems.

Genetics

Kindler syndrome is an autosomal recessive genodermatosis. The KIND1 gene mutated in Kindler syndrome codes for the protein kindlin-1, which is thought to be active in the interactions between

actin Actin is a family of globular multi-functional proteins that form microfilaments in the cytoskeleton, and the thin filaments in muscle fibrils. It is found in essentially all eukaryotic cells, where it may be present at a concentration of ov ...

and the

extracellular matrix In biology, the extracellular matrix (ECM), also called intercellular matrix, is a three-dimensional network consisting of extracellular macromolecules and minerals, such as collagen, enzymes, glycoproteins and hydroxyapatite that provide s ...

(focal adhesion plaques). Kindler syndrome was first described in 1954 by Theresa Kindler.

Diagnosis

Clinical and genetic tests are used to confirm diagnosis.

Management

Treatment may involve several different types of practitioner to address the various manifestations that may occur. This multidisciplinary team will also be involved in preventing secondary complications.

References

External links