Monilethrix

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Rita Xu

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2020-12-15 07:31:45

Monilethrix

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

Monilethrix is a condition that affects hair growth. Its most characteristic feature is that individual strands of hair have a beaded appearance like the beads of a necklace. The name monilethrix comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Noticeable when viewed under a microscope, the beaded appearance is due to periodic narrowing of the hair shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and short, brittle hair that breaks easily.

genetic conditions

References

Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd,Christiano AM. Desmoglein 4 is expressed in highly differentiated keratinocytesand trichocytes in human epidermis and hair follicle. Differentiation. 2006Mar;74(2-3):129-40.
De Berker DA, Ferguson DJ, Dawber RP. Monilethrix: a clinicopathologicalillustration of a cortical defect. Br J Dermatol. 1993 Mar;128(3):327-31.
Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A. De novo mutations in monilethrix. Exp Dermatol. 2003Dec;12(6):882-5.
Ito M, Hashimoto K, Yorder FW. Monilethrix: an ultrastructural study. J Cutan Pathol. 1984 Dec;11(6):513-21.
Kljuic A, Bazzi H, Sundberg JP, Martinez-Mir A, O'Shaughnessy R, Mahoney MG,Levy M, Montagutelli X, Ahmad W, Aita VM, Gordon D, Uitto J, Whiting D, Ott J,Fischer S, Gilliam TC, Jahoda CA, Morris RJ, Panteleyev AA, Nguyen VT, ChristianoAM. Desmoglein 4 in hair follicle differentiation and epidermal adhesion:evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003Apr 18;113(2):249-60.
Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, Birch-MacHin M, Rees JL, Messenger AG, Holmes SC, Parry DA, Munro CS. Identification of novelmutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications forprotein structure and clinical phenotype. J Invest Dermatol. 1999Oct;113(4):607-12.
Rogers GE. Hair follicle differentiation and regulation. Int J Dev Biol.2004;48(2-3):163-70. Review.
van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M. Amissense mutation in the type II hair keratin hHb3 is associated withmonilethrix. J Med Genet. 2005 Mar;42(3):e19.
Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labrèze C, Roul S,Taieb A, Krieg T, Schweizer J. Mutations in the hair cortex keratin hHb6 causethe inherited hair disease monilethrix. Nat Genet. 1997 Aug;16(4):372-4.
Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, Ingber A,Frydman M, Reznik-Wolf H, Vardy DA, Pras E. An autosomal recessive form ofmonilethrix is caused by mutations in DSG4: clinical overlap with localizedautosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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