Monilethrix
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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.
Descrição
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.
Affected individuals usually have normal hair at birth, but the hair abnormalities develop within the first few months of life. In mild cases of monilethrix, only hair on the back of the head (occiput) or nape of the neck is affected. In more severe cases, hair over the whole scalp can be affected, as well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and legs.
Occasionally, the skin and nails are involved in monilethrix. Some affected individuals have a skin condition called keratosis pilaris, which causes small bumps on the skin, especially on the scalp, neck, and arms. Affected individuals may also have abnormal fingernails or toenails.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Beaded hair
Leitura adicional e referências
- Monilethrix; MedlinePlus, National Library of Medicine.
- Bazzi H, Getz A, Mahoney MG, Ishida-Yamamoto A, Langbein L, Wahl JK 3rd, Christiano AM. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. Differentiation. 2006 Mar;74(2-3):129-40. doi: 10.1111/j.1432-0436.2006.00061.x.
- De Berker DA, Ferguson DJ, Dawber RP. Monilethrix: a clinicopathological illustration of a cortical defect. Br J Dermatol. 1993 Mar;128(3):327-31. doi: 10.1111/j.1365-2133.1993.tb00179.x.
- Horev L, Djabali K, Green J, Sinclair R, Martinez-Mir A, Ingber A, Christiano AM, Zlotogorski A. De novo mutations in monilethrix. Exp Dermatol. 2003 Dec;12(6):882-5. doi: 10.1111/j.0906-6705.2003.00022.x.
- Ito M, Hashimoto K, Yorder FW. Monilethrix: an ultrastructural study. J Cutan Pathol. 1984 Dec;11(6):513-21. doi: 10.1111/j.1600-0560.1984.tb00412.x.
- 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, Christiano AM. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18;113(2):249-60. doi: 10.1016/s0092-8674(03)00273-3.
- 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 novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J Invest Dermatol. 1999 Oct;113(4):607-12. doi: 10.1046/j.1523-1747.1999.00722.x.
- Rogers GE. Hair follicle differentiation and regulation. Int J Dev Biol. 2004;48(2-3):163-70.
- van Steensel MA, Steijlen PM, Bladergroen RS, Vermeer M, van Geel M. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet. 2005 Mar;42(3):e19. doi: 10.1136/jmg.2004.021030. No abstract available.
- Winter H, Rogers MA, Langbein L, Stevens HP, Leigh IM, Labreze C, Roul S, Taieb A, Krieg T, Schweizer J. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix. Nat Genet. 1997 Aug;16(4):372-4. doi: 10.1038/ng0897-372.
- 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 of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. 2006 Jun;126(6):1292-6. doi: 10.1038/sj.jid.5700251.
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