Trichorrhexis Nodosa Workup

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD   more...
 
Updated: May 27, 2011
 

Laboratory Studies

Light and electron microscopy of the affected areas reveal a decreased or absent cuticular cell layer and the characteristic paintbrush bristle appearance of trichorrhexis nodosa. More precisely, it resembles a crushed paint brush and is called a "paint brush fracture."[1] In patients with underlying trichothiodystrophy, polarized light shows the typical appearance of alternating light and dark bands on the shaft, the so-called tiger-tail pattern.[13] Fungal microscopy and culture may be performed if necessary. Patients suspected of having an underlying congenital disorder because of a young age at onset and because of the presence of associated symptoms warrant further investigation.

Analysis of the hair shaft may reveal a chemical deficiency caused by a metabolic disorder (eg, low sulfur level in trichothiodystrophy). Serum and urine amino acid levels should be investigated.

Other blood tests may include copper level tests, iron studies, blood cell counts, and liver and thyroid function tests.

Next

Imaging Studies

A CT of the brain and an EEG may aid in diagnosis if mental retardation is present.

Tortuous intracranial vessels and bladder diverticula may be present at early stages and may suggest this diagnosis.[14]

Previous
Proceed to Treatment & Management
 
 
Contributor Information and Disclosures
Author

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

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

Disclosure: Nothing to disclose.

Coauthor(s)

Bryan D Seiff, MD  Staff Physician, Department of Ophthalmology, NY Presbyterian Hospital-Cornell

Bryan D Seiff, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

Specialty Editor Board

Leonard Sperling, MD  Chair, Professor, Department of Dermatology, Uniformed Services University of the Health Sciences

Leonard Sperling, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

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

Disclosure: Nothing to disclose.

Paul Krusinski, MD  Director of Dermatology, Fletcher Allen Health Care; Professor, Department of Internal Medicine, University of Vermont College of Medicine

Paul Krusinski, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Glen H Crawford, MD  Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital

Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

References

  1. Miyamoto M, Tsuboi R, Oh-I T. Case of acquired trichorrhexis nodosa: scanning electron microscopic observation. J Dermatol. Feb 2009;36(2):109-10. [Medline].

  2. Papa CM, Mills OH Jr, Hanshaw W. Seasonal trichorrhexis nodosa. Role of cumulative damage in frayed hair. Arch Dermatol. Dec 1972;106(6):888-92. [Medline].

  3. Fichtel JC, Richards JA, Davis LS. Trichorrhexis nodosa secondary to argininosuccinicaciduria. Pediatr Dermatol. Jan-Feb 2007;24(1):25-7. [Medline].

  4. Lurie R, Hodak E, Ginzburg A, David M. Trichorrhexis nodosa: a manifestation of hypothyroidism. Cutis. May 1996;57(5):358-9. [Medline].

  5. Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, et al. Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy). Gastroenterology. Feb 20 2010;[Medline].

  6. Pollitt RJ, Jenner FA, Davies M. Sibs with mental and physical retardation and trichorrhexis nodosa with abnormal amino acid composition of the hair. Arch Dis Child. Apr 1968;43(228):211-6. [Medline].

  7. Bahi-Buisson N, Kaminska A, Nabbout R, Barnerias C, Desguerre I, De Lonlay P, et al. Epilepsy in menkes disease: analysis of clinical stages. Epilepsia. Feb 2006;47(2):380-6. [Medline].

  8. Egritas O, Dalgic B, Onder M. Tricho-hepato-enteric syndrome presenting with mild colitis. Eur J Pediatr. Nov 4 2008;[Medline].

  9. Mirmirani P. Ceramic flat irons: improper use leading to acquired trichorrhexis nodosa. J Am Acad Dermatol. Jan 2010;62(1):145-7. [Medline].

  10. Usuda T, Saijo M, Tanaka K, Sato N, Uchiyama M, Kobayashi T. A Japanese trichothiodystrophy patient with XPD mutations. J Hum Genet. Jan 2011;56(1):77-9. [Medline].

  11. Goulet O, Vinson C, Roquelaure B, Brousse N, Bodemer C, Cézard JP. Syndromic (phenotypic) diarrhea in early infancy. Orphanet J Rare Dis. Feb 28 2008;3:6. [Medline].

  12. Khumalo NP, Dawber RP, Ferguson DJ. Apparent fragility of African hair is unrelated to the cystine-rich protein distribution: a cytochemical electron microscopic study. Exp Dermatol. Apr 2005;14(4):311-4. [Medline].

  13. Liang C, Kraemer KH, Morris A, Schiffmann R, Price VH, Menefee E, et al. Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. J Am Acad Dermatol. Feb 2005;52(2):224-32. [Medline].

  14. Cosimo QC, Daniela L, Elsa B, Carlo DV, Giuseppe F. Kinky hair, kinky vessels, and bladder diverticula in menkes disease. J Neuroimaging. Apr 2011;21(2):e114-6. [Medline].

  15. Burkhart CG, Burkhart CN. Trichorrhexis nodosa revisited. Skinmed. Mar-Apr 2007;6(2):57-8. [Medline].

  16. Freedburg IM, Eisen AZ, Wolff K, et al. Fitzpatrick's Dermatology in General Medicine. 5th ed. New York, NY: McGraw Hill; 1999.

  17. Leonard JN, Gummer CL, Dawber RP. Generalized trichorrhexis nodosa. Br J Dermatol. Jul 1980;103(1):85-90. [Medline].

  18. Owens DW, Chernosky ME. Trichorrhexis nodosa; in vitro reproduction. Arch Dermatol. Nov 1966;94(5):586-8. [Medline].

  19. Peter C, Tomczok J, Hoting E, Behrendt H. Trichothiodystrophy without associated neuroectodermal defects. Br J Dermatol. Jul 1998;139(1):137-40. [Medline].

  20. Rushton DH, Norris MJ, James KC. Amino-acid composition in trichorrhexis nodosa. Clin Exp Dermatol. Jan 1990;15(1):24-8. [Medline].

 
Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.