Kindler syndrome

Kindler syndrome
Synonyms 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 Edit this on Wikidata

Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",[1]) is a rare congenital disease of the skin caused by a mutation in the KIND1 gene.

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).[4] Kindler syndrome was first described in 1954 by Theresa Kindler.[5]

Diagnosis

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.

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 1-4160-2999-0.
  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. ↑ 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". American Journal of Human Genetics. 73 (1): 174–87. doi:10.1086/376609. ISSN 0002-9297. PMC 1180579. PMID 12789646.
  5. ↑ Kindler T (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.
Classification
External resources
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