Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Monilethrix Workup

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 21, 2016
 

Other Tests

Light microscopy, with macroscopic examination, aids in diagnosis. The hair shaft has regular, elliptical, fusiform, or spindle-shaped swellings (nodes) that are 0.7-1.0 mm in diameter and separated by constricted internodes. The nodes have the diameter of normal hair and are medullated, whereas the internodes have no medulla and are the sites of fracture. Pigment is present in both segments.

Scanning electron microscopy may reveal useful findings. All nodes demonstrate normal or worn transverse cuticular scales. Internodes show a dense longitudinal pattern of scales and ridging.

Dermoscopy can be used as a tool for rapid diagnosis of monilethrix.[19, 20, 21] It may show hair shafts with uniform elliptical nodes and intermittent constrictions, hairs bent regularly at multiple locations, and a tendency to fracture at constriction sites. The hair may be of varying lengths, with multiple shafts broken.[22] Hair with normal morphology may be interspersed within beaded hair. Scalp hair may have white dots and a honeycomb pigment network. The forearm hair may appear to be normal but, with dermoscopy, beaded short hairs may be evident. Videodermoscopy of hair (trichoscopy) may be similarly used.[23]

Note the images below.

Photomicrograph shows the regular nodes and intern Photomicrograph shows the regular nodes and internodes of the hair shaft in monilethrix, or pili moniliformes (original magnification X200).
Photomicrograph shows the regular nodes and intern Photomicrograph shows the regular nodes and internodes of the hair shaft in monilethrix, or pili moniliformes (original magnification X200).
Next

Histologic Findings

Landau et al recently described an easy way to diagnose severe neonatal monilethrix.[24] One can scrape the scalp with a glass slide, collect epidermal cells and rudimentary hair fragments, and examine the unstained specimen by using a microscope. One should find single or paired beads of typical monilethrix hair.

Previous
 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Coauthor(s)

Malgorzata Alexiewicz-Slowinska, MD Consulting Dermatologist, Group Medical Practice, Poznan, Poland

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Carrie L Kovarik, MD Assistant Professor of Dermatology, Dermatopathology, and Infectious Diseases, University of Pennsylvania School of Medicine

Carrie L Kovarik, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous authors, Dr. Marek Kazmierowski and Dr. Gosiunia Alexiewicz-Slowinsk, to the development and writing of this article.

References
  1. 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. 2006 Jun. 126(6):1292-6. [Medline].

  2. 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. 1999 Oct. 113(4):607-12. [Medline].

  3. 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. 2000 Sep-Oct. 50(5):322-4. [Medline].

  4. 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].

  5. 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].

  6. 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. 1999 Dec. 113(6):1123-7. [Medline].

  7. 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. 2000 Sep-Oct. 50(5):325-30. [Medline].

  8. 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. [Medline].

  9. 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. 2008 Apr. 25(2):141-4. [Medline].

  10. 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. 2004 Jan-Mar. 47(1):77-84. [Medline].

  11. Kato M, Shimizu A, Yokoyama Y, Kaira K, Shimomura Y, Ishida-Yamamoto A, et al. An autosomal recessive mutation of DSG4 causes monilethrix through the ER stress response. J Invest Dermatol. 2015 May. 135 (5):1253-60. [Medline].

  12. Wang JM, Xiao YJ, Liang YH. Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. Int J Dermatol. 2015 Oct. 54 (10):1163-8. [Medline].

  13. van Steensel M, Vreeburg M, Urbina MT, López P, Morice-Picard F, van Geel M. Novel KRT83 and KRT86 mutations associated with monilethrix. Exp Dermatol. 2015 Mar. 24 (3):222-4. [Medline].

  14. 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. 2011 Apr 18. [Medline].

  15. 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. 2012 May 9. [Medline].

  16. Leitner C, Cheung S, de Berker D. Pitfalls and Pearls in the Diagnosis of Monilethrix. Pediatr Dermatol. 2013 Jul 9. [Medline].

  17. Rudnicka L, Olszewska M, Rakowska A, Slowinska M. Trichoscopy update 2011. J Dermatol Case Rep. 2011 Dec 12. 5(4):82-8. [Medline]. [Full Text].

  18. Ullah A, Raza SI, Ali RH, Naveed AK, Jan A, Rizvi SD, et al. A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. Clin Exp Dermatol. 2014 Sep 23. [Medline].

  19. Rakowska A, Slowinska M, Czuwara J, Olszewska M, Rudnicka L. Dermoscopy as a tool for rapid diagnosis of monilethrix. J Drugs Dermatol. 2007 Feb. 6(2):222-4. [Medline].

  20. Liu CI, Hsu CH. Rapid diagnosis of monilethrix using dermoscopy. Br J Dermatol. 2008 Sep. 159(3):741-3. [Medline].

  21. Wallace MP, de Berker DA. Hair diagnoses and signs: the use of dermatoscopy. Clin Exp Dermatol. 2010 Jan. 35(1):41-6. [Medline].

  22. Sharma VK, Chiramel MJ, Rao A. Dermoscopy: A rapid bedside tool to assess monilethrix. Indian J Dermatol Venereol Leprol. 2016 Jan-Feb. 82 (1):73-4. [Medline].

  23. Rudnicka L, Olszewska M, Rakowska A, Kowalska-Oledzka E, Slowinska M. Trichoscopy: a new method for diagnosing hair loss. J Drugs Dermatol. 2008 Jul. 7(7):651-4. [Medline].

  24. Landau M, Brenner S, Metzker A. Medical Pearl: an easy way to diagnose severe neonatal monilethrix. J Am Acad Dermatol. 2002 Jan. 46(1):111-2. [Medline].

  25. Vikramkumar AG, Kuruvila S, Ganguly S. Monilethrix: a rare hereditary condition. Indian J Dermatol. 2013 May. 58(3):243. [Medline]. [Full Text].

  26. Vora RV, Anjaneyan G, Mehta MJ. Monilethrix, a rare inherited hair shaft disorder in siblings. Indian Dermatol Online J. 2014 Jul. 5(3):339-40. [Medline]. [Full Text].

  27. Karincaoglu Y, Coskun BK, Seyhan ME, Bayram N. Monilethrix: improvement with acitretin. Am J Clin Dermatol. 2005. 6(6):407-10. [Medline].

  28. Rossi A, Iorio A, Scali E, et al. Monilethrix treated with Minoxidil. Int J Immunopathol Pharmacol. 2011 Jan-Mar. 24(1):239-42. [Medline].

  29. Mallory SB, Leal-Khouri S. All Illustrated Dictionary of Dermatologic Syndromes. London, England: Parthenon Publishing; 1994. Vol 143: 95.

  30. Orfanos CE, Happle R. Hair and Hair Diseases. New York, NY: Springer Verlag; 1990. Vol 16: 423-31.

 
Previous
Next
 
Lusterless, dry, brittle hair with alopecia and keratosis pilaris mainly on the occiput. The hair of this 4-year-old boy was never cut.
Photomicrograph shows the regular nodes and internodes of the hair shaft in monilethrix, or pili moniliformes (original magnification X200).
Photomicrograph shows the regular nodes and internodes of the hair shaft in monilethrix, or pili moniliformes (original magnification X200).
Monilethrix that affects the entire scalp.
Monilethrix that affects the entire scalp.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.