Kindler syndrome explained

Synonyms:	Congenital poikiloderma with blisters and keratoses, Congenital poikiloderma with bullae and progressive cutaneous atrophy, Hereditary acrokeratotic poikiloderma, Hyperkeratosis–hyperpigmentation syndrome,^[1] Acrokeratotic poikiloderma, Weary–Kindler syndrome^[2]
Kindler syndrome

Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary"^[3]) is a rare congenital disease 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.^[4] 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 and the extracellular matrix (focal adhesion plaques).^[5] Kindler syndrome was first described in 1954 by Theresa Kindler.^[6]

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.^[8]

See also

• Rothmund–Thomson syndrome
• Epidermolysis bullosa
• List of cutaneous conditions

Notes and References

1. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. .
2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. .
3. Book: Rapini, Ronald P. . Dermatology: 2-Volume Set . Bolognia, Jean L. . Jorizzo, Joseph L. . Mosby . 2007 . 978-1-4160-2999-1 . St. Louis.
4. Bardhan . Ajoy . Bruckner-Tuderman . Leena . Chapple . Iain L. C. . Fine . Jo-David . Harper . Natasha . Has . Cristina . Magin . Thomas M. . Marinkovich . M. Peter . Marshall . John F. . McGrath . John A. . Mellerio . Jemima E. . 2020-09-24 . Epidermolysis bullosa . Nature Reviews Disease Primers . en . 6 . 1 . 78 . 10.1038/s41572-020-0210-0 . 2056-676X . 32973163 . 221861310.
5. 6 . Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH . July 2003 . Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome . Am. J. Hum. Genet. . 73 . 1 . 174–87 . 10.1086/376609 . 1180579 . 12789646.
6. Kindler T . March 1954 . Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy . Br. J. Dermatol. . 66 . 3 . 104–11 . 10.1111/j.1365-2133.1954.tb12598.x . 13149722 . 22888894.
7. Web site: . Kindler syndrome . November 18, 2018 . Genetics Home Reference . NIH.
8. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LH, Stephens K, Amemiya A, Youssefian L, Vahidnezhad H, Uitto J . December 2016 . Kindler Syndrome - Synonym: Congenital Bullous Poikiloderma . GeneReviews . 26937547.