Kindler syndrome

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Kindler syndrome
Other namesCongenital 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 
Autorecessive.svg
Kindler syndrome has an autosomal recessive pattern of inheritance.
Specialty Medical genetics, dermatology   OOjs UI icon edit-ltr-progressive.svg

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.

Contents

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

  1. 1 2 3 4 Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN   978-1-4160-2999-1.
  2. ↑ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN   0-07-138076-0.
  3. ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN   0-7216-2921-0.
  4. 1 2 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. 6 (1): 78. doi:10.1038/s41572-020-0210-0. ISSN   2056-676X. PMID   32973163. S2CID   221861310.
  5. ↑ Becker, Sarah; Brizuela, Melina; Mendez, Magda D. (2025). Tongue tie. Treasure Island (FL): StatPearls Publishing. PMID   29493920.
  6. 1 2 3 Khanna, Divya; Bardhan, Ajoy (2025). Epidermolysis Bullosa. Treasure Island (FL): StatPearls Publishing. PMID   38261681.
  7. 1 2 "Kindler syndrome". Genetics Home Reference. NIH. Retrieved November 18, 2018.
  8. ↑ Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, et al. (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. doi:10.1086/376609. PMC   1180579 . PMID   12789646.
  9. ↑ Kindler T (March 1954). "Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy". Br. J. Dermatol. 66 (3): 104–11. doi:10.1111/j.1365-2133.1954.tb12598.x. PMID   13149722. S2CID   22888894.
  10. ↑ 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. PMID   26937547.
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