Monilethrix Differential Diagnoses
- Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD more...
Zlotogorski A, Marek D, Horev L, Abu A, Ben-Amitai D, Gerad L, et al. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. J Invest Dermatol. Jun 2006;126(6):1292-6. [Medline].
Korge BP, Hamm H, Jury CS, Traupe H, Irvine AD, Healy E, et al. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J Invest Dermatol. Oct 1999;113(4):607-12. [Medline].
Winter H, Vabres P, Larregue M, Rogers MA, Schweizer J. A novel missense mutation, A118E, in the helix initiation motif of the type II hair cortex keratin hHb6, causing monilethrix. Hum Hered. Sep-Oct 2000;50(5):322-4. [Medline].
Muramatsu S, Kimura T, Ueki R, Tsuboi R, Ikeda S, Ogawa H. Recurrent E413K mutation of hHb6 in a Japanese family with monilethrix. Dermatology. 2003;206(4):338-40. [Medline].
Celep F, Uzumcu A, Sonmez FM, Uyguner O, Balci YI, Bahadir S, et al. Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance. Genet Couns. 2009;20(1):1-8. [Medline].
Pearce EG, Smith SK, Lanigan SW, Bowden PE. Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix. J Invest Dermatol. Dec 1999;113(6):1123-7. [Medline].
Horev L, Glaser B, Metzker A, Ben-Amitai D, Vardy D, Zlotogorski A. Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. Hum Hered. Sep-Oct 2000;50(5):325-30. [Medline].
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. Mar 2005;42(3):e19. [Medline].
Feng A, Liu P, Yang T, Wang Y, Chen X, Liu M, et al. [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix.]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. Apr 2008;25(2):141-4. [Medline].
Khandpur S, Bairwa NK, Reddy BS, Bamezai R. A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin. Ann Genet. Jan-Mar 2004;47(1):77-84. [Medline].
Farooq M, Ito M, Naito M, Shimomura Y. A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene. Br J Dermatol. Apr 18 2011;[Medline].
Feng YG, Xiao SX, Xu AL, Feng JY, Wang JM. Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation. J Dermatol. May 9 2012;[Medline].
Rudnicka L, Olszewska M, Rakowska A, Slowinska M. Trichoscopy update 2011. J Dermatol Case Rep. Dec 12 2011;5(4):82-8. [Medline]. [Full Text].
Rakowska A, Slowinska M, Czuwara J, Olszewska M, Rudnicka L. Dermoscopy as a tool for rapid diagnosis of monilethrix. J Drugs Dermatol. Feb 2007;6(2):222-4. [Medline].
Liu CI, Hsu CH. Rapid diagnosis of monilethrix using dermoscopy. Br J Dermatol. Sep 2008;159(3):741-3. [Medline].
Wallace MP, de Berker DA. Hair diagnoses and signs: the use of dermatoscopy. Clin Exp Dermatol. Jan 2010;35(1):41-6. [Medline].
Rudnicka L, Olszewska M, Rakowska A, Kowalska-Oledzka E, Slowinska M. Trichoscopy: a new method for diagnosing hair loss. J Drugs Dermatol. Jul 2008;7(7):651-4. [Medline].
Landau M, Brenner S, Metzker A. Medical Pearl: an easy way to diagnose severe neonatal monilethrix. J Am Acad Dermatol. Jan 2002;46(1):111-2. [Medline].
Karincaoglu Y, Coskun BK, Seyhan ME, Bayram N. Monilethrix: improvement with acitretin. Am J Clin Dermatol. 2005;6(6):407-10. [Medline].
Rossi A, Iorio A, Scali E, et al. Monilethrix treated with Minoxidil. Int J Immunopathol Pharmacol. Jan-Mar 2011;24(1):239-42. [Medline].
Braun-Falco O, Plewig G. Dermatology. Vol 31. New York, NY: Springer Verlag; 1990:762-3.
Brzezinska-Wcislo L, Bogdanowski T, Szeremeta-Bazylewicz G, Pierzchala E. [Monilethrix--rare syndrome of structural hair abnormalities]. Pol Merkur Lekarski. Nov 1999;7(41):226-8. [Medline].
Camacho-Martinez F, Ferrando J. Hair shaft dysplasias. Int J Dermatol. Mar 1988;27(2):71-80. [Medline].
de Berker D, Dawber RP. Variations in the beading configuration in monilethrix. Pediatr Dermatol. Mar 1992;9(1):19-21. [Medline].
De Berker DA, Ferguson DJ, Dawber RP. Monilethrix: a clinicopathological illustration of a cortical defect. Br J Dermatol. Mar 1993;128(3):327-31. [Medline].
Erbagci Z, Erbagci I, Erbagci H, Erkilic S, Tuncel AA. Severe monilethrix associated with intractable scalp pruritus, posterior subcapsular cataract, brachiocephaly, and distinct facial features: a new variant of monilethrix syndrome?. Pediatr Dermatol. Jul-Aug 2004;21(4):486-90. [Medline].
Gebhardt M, Fischer T, Claussen U, Wollina U, Elsner P. Monilethrix--improvement by hormonal influences?. Pediatr Dermatol. Jul-Aug 1999;16(4):297-300. [Medline].
Irvine AD, McLean WH. Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation. Br J Dermatol. May 1999;140(5):815-28. [Medline].
Mallory SB, Leal-Khouri S. All Illustrated Dictionary of Dermatologic Syndromes. Vol 143. London, England: Parthenon Publishing; 1994:95.
Orfanos CE, Happle R. Hair and Hair Diseases. Vol 16. New York, NY: Springer Verlag; 1990:423-31.
Price VH. Disorders of the hair in children. Pediatr Clin North Am. May 1978;25(2):305-20. [Medline].
Richard G, Itin P, Lin JP, Bon A, Bale SJ. Evidence for genetic heterogeneity in monilethrix. J Invest Dermatol. Dec 1996;107(6):812-4. [Medline].
Rook A, Dawber R. Diseases of Hair and Scalp. Vol 7. Oxford, England: Blackwell Scientific; 1991:201-6.
Shimomura Y. Congenital hair loss disorders: rare, but not too rare. J Dermatol. Jan 2012;39(1):3-10. [Medline].
Whiting DA. Structural abnormalities of the hair shaft. J Am Acad Dermatol. Jan 1987;16(1 Pt 1):1-25. [Medline].

