Kindler syndrome
Medical condition From Wikipedia, the free encyclopedia
Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary"[1]) is a type of epidermolysis bullosa, a rare congenital disease presenting with skin blisters, caused by a mutation in the KIND1 gene.
| Kindler syndrome | |
|---|---|
| Other names | Congenital poikiloderma with blisters and keratoses,[1] Congenital poikiloderma with bullae and progressive cutaneous atrophy,[1] Hereditary acrokeratotic poikiloderma,[1] Hyperkeratosis–hyperpigmentation syndrome,[2]: 511 Acrokeratotic poikiloderma, Weary–Kindler syndrome[3]: 558 |
| |
| Kindler syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | Medical genetics, dermatology |
Symptoms and signs
Infants and young children with Kindler syndrome have a tendency to blister with minor trauma and are prone to sunburns.[4] It has also been associated with ankyloglossia.[5]
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.[4]
In adults, palmoplantar hyperkeratosis can develop and epithelial cancers, such as squamous cell carcinoma typically at acral and mucosal sites.[6] Kindler syndrome can affect various mucous tissues such as the mouth and eyes, which can lead to other health problems,[7] like gingivitis, esophageal stenosis, and colitis.[6]
Cause
Kindler syndrome is the rarest of the epidermolysis bullosa types with only 400 cases known worldwide.[6] It 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 and the extracellular matrix (focal adhesion plaques).[8] Kindler syndrome was first described in 1954 by Theresa Kindler.[9]
Diagnosis
Clinical and genetic tests are used to confirm diagnosis.[7]
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.[10]
See also
References
External links
Wikiwand - on
Seamless Wikipedia browsing. On steroids.