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Xu, C. Keratoderma with Woolly Hair. Encyclopedia. Available online: https://encyclopedia.pub/entry/4405 (accessed on 28 September 2026).
Xu C. Keratoderma with Woolly Hair. Encyclopedia. Available at: https://encyclopedia.pub/entry/4405. Accessed September 28, 2026.
Xu, Camila. "Keratoderma with Woolly Hair" Encyclopedia, https://encyclopedia.pub/entry/4405 (accessed September 28, 2026).
Xu, C. (2020, December 23). Keratoderma with Woolly Hair. In Encyclopedia. https://encyclopedia.pub/entry/4405
Xu, Camila. "Keratoderma with Woolly Hair." Encyclopedia. Web. 23 December, 2020.
Keratoderma with Woolly Hair
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/keratoderma-with-woolly-hair

Keratoderma with woolly hair is a group of related conditions that affect the skin and hair and in many cases increase the risk of potentially life-threatening heart problems.

genetic conditions

References

  1. McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A,Norman M, Baboonian C, Jeffery S, McKenna WJ. Identification of a deletion inplakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet. 2000 Jun17;355(9221):2119-24.
  2. Norgett EE, Hatsell SJ, Carvajal-Huerta L, Cabezas JC, Common J, Purkis PE,Whittock N, Leigh IM, Stevens HP, Kelsell DP. Recessive mutation in desmoplakindisrupts desmoplakin-intermediate filament interactions and causes dilatedcardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000 Nov1;9(18):2761-6.
  3. Petrof G, Mellerio JE, McGrath JA. Desmosomal genodermatoses. Br J Dermatol.2012 Jan;166(1):36-45. doi: 10.1111/j.1365-2133.2011.10640.x. Review.
  4. Polivka L, Bodemer C, Hadj-Rabia S. Combination of palmoplantar keratodermaand hair shaft anomalies, the warning signal of severe arrhythmogeniccardiomyopathy: a systematic review on genetic desmosomal diseases. J Med Genet. 2016 May;53(5):289-95. doi: 10.1136/jmedgenet-2015-103403.Review.
  5. Ramot Y, Molho-Pessach V, Meir T, Alper-Pinus R, Siam I, Tams S, Babay S,Zlotogorski A. Mutation in KANK2, encoding a sequestering protein for steroidreceptor coactivators, causes keratoderma and woolly hair. J Med Genet. 2014Jun;51(6):388-94. doi: 10.1136/jmedgenet-2014-102346.
  6. Ramot Y, Zlotogorski A. The twisting tale of woolly hair: a trait with manycauses. J Med Genet. 2015 Apr;52(4):217-23. doi: 10.1136/jmedgenet-2014-102630.
  7. Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER,Crosby AH. Homozygous mutation of desmocollin-2 in arrhythmogenic rightventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair.Cardiology. 2009;113(1):28-34. doi: 10.1159/000165696.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 811
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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