Kindler syndrome

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Kindler syndrome
Classification and external resources
ICD-10 Q82.8
OMIM 173650
DiseasesDB 32778
eMedicine derm/943

Kindler syndrome (also known as "Bullous acrokeratotic poikiloderma of Kindler and Weary,",[1] "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," and "Weary–Kindler syndrome"[3]:558) is a rare congenital disease of the skin caused by a mutation in the KIND1 gene.

Diagnosis[edit]

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.[citation needed]

Genetics[edit]

Kindler syndrome has an autosomal recessive pattern of inheritance.

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

See also[edit]

References[edit]

  1. ^ a b c d 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. 

External links[edit]