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.
See also
*
Rothmund–Thomson syndrome
Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition.
There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase ''RECQL4'' gene, causing problems during initi ...
*
Epidermolysis bullosa
Epidermolysis bullosa (EB) is a group of rare medical conditions that result in easy blistering of the skin and mucous membranes. Blisters occur with minor trauma or friction and are painful. Its severity can range from mild to fatal. Inherited E ...
*
List of cutaneous conditions
References
External links
{{Cell membrane protein disorders
Genodermatoses
Rare syndromes
Autosomal recessive disorders
Papulosquamous hyperkeratotic cutaneous conditions
Syndromes affecting the skin