Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",
) is a
rare congenital disease of the skin caused by a mutation in the
KIND1
Fermitin family homolog 1 is a protein that in humans is encoded by the ''FERMT1'' gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' ...
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
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
genodermatosis
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis rang ...
. The KIND1 gene mutated in Kindler syndrome codes for the protein
kindlin-1
Fermitin family homolog 1 is a protein that in humans is encoded by the ''FERMT1'' gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' ...
, which is thought to be active in the interactions between
actin and the
extracellular matrix (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
*
Epidermolysis bullosa
*
List of cutaneous conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against t ...
References
External links
{{Cell membrane protein disorders
Genodermatoses
Rare syndromes
Autosomal recessive disorders
Papulosquamous hyperkeratotic cutaneous conditions
Syndromes affecting the skin