Kindler Syndrome

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Xu, C. Kindler Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4402 (accessed on 27 September 2026).

Xu C. Kindler Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4402. Accessed September 27, 2026.

Xu, Camila. "Kindler Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4402 (accessed September 27, 2026).

Xu, C. (2020, December 23). Kindler Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4402

Xu, Camila. "Kindler Syndrome." Encyclopedia. Web. 23 December, 2020.

Kindler Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/kindler-syndrome

Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily.

genetic conditions

References

Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Recurrent mutations in kindlin-1, a novel keratinocyte focalcontact protein, in the autosomal recessive skin fragility and photosensitivitydisorder, Kindler syndrome. J Invest Dermatol. 2004 Jan;122(1):78-83.
Has C, Castiglia D, del Rio M, Diez MG, Piccinni E, Kiritsi D, Kohlhase J,Itin P, Martin L, Fischer J, Zambruno G, Bruckner-Tuderman L. Kindler syndrome:extension of FERMT1 mutational spectrum and natural history. Hum Mutat. 2011Nov;32(11):1204-12. doi: 10.1002/humu.21576.
Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J,Lathrop M, Prud'homme JF, Fischer J. Identification of mutations in a new geneencoding a FERM family protein with a pleckstrin homology domain in Kindlersyndrome. Hum Mol Genet. 2003 Apr 15;12(8):925-35.
Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatol Clin. 2010Jan;28(1):119-24. doi: 10.1016/j.det.2009.10.013. Review.
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, OgawaH, 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. Loss of kindlin-1, a human homolog of the Caenorhabditis elegansactin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003 Jul;73(1):174-87.
Youssefian L, Vahidnezhad H, Uitto J. Kindler Syndrome. 2016 Mar 3 [updated2016 Dec 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, StephensK, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK349072/

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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