| 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  |
Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary"[1]) is a type ofepidermolysis bullosa, ararecongenital disease presenting with skin blisters, caused by a mutation in theKIND1 gene.
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 withankyloglossia.[5]
As individuals with Kindler syndrome age, they tend to have fewer problems with blistering andphotosensitivity. However, pigment changes and thinning of the skin become more prominent.[4]
In adults, palmoplantar hyperkeratosis can develop and epithelial cancers, such assquamous cell carcinoma typically atacral and mucosal sites.[6]Kindler syndrome can affect variousmucous tissues such as the mouth and eyes, which can lead to other health problems,[7]like gingivitis,esophageal stenosis, and colitis.[6]
Kindler syndrome is the rarest of theepidermolysis bullosa types with only 400 cases known worldwide.[6]It is anautosomal recessivegenodermatosis. The KIND1 gene mutated in Kindler syndrome codes for the proteinkindlin-1, which is thought to be active in the interactions betweenactin and theextracellular matrix (focal adhesion plaques).[8] Kindler syndrome was first described in 1954 by Theresa Kindler.[9]
Clinical and genetic tests are used to confirm diagnosis.[7]
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]