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Trichorrhexis Nodosa Workup

  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
 
Updated: Jun 21, 2016
 

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."[2] 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.[24] 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.

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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.[25]

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Other Tests

Dermoscopy shows breakage in hair shafts at multiple levels, producing an appearance suggestive of the ends of 2 brushes aligned in opposition, resembling “thrust paint brushes.”[17, 18, 26] High-power magnification demonstrates these fibers in detail, while at low power, these structures appear as light-colored nodules or gaps located along the hair shaft.[18]

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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.

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.

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, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

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

Disclosure: Nothing to disclose.

Additional Contributors

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.

Acknowledgements

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.

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

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

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

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  12. Sisto T, Bussoletti C, D'Amore A, Favoriti N, Fania L, Celleno L. Inability to grow long hair: a presentation of trichorrhexis nodosa. Cutis. 2015 Mar. 95(3):E15-6. [Medline].

  13. 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. 1968 Apr. 43(228):211-6. [Medline].

  14. Rodney IJ, Onwudiwe OC, Callender VD, Halder RM. Hair and scalp disorders in ethnic populations. J Drugs Dermatol. 2013 Apr. 12(4):420-7. [Medline].

  15. 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. 2006 Feb. 47(2):380-6. [Medline].

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

  17. Kharkar V, Gutte R, Thakkar V, Khopkar U. Trichorrhexis nodosa with nail dystrophy: diagnosis by dermoscopy. Int J Trichology. 2011 Jul. 3(2):105-6. [Medline]. [Full Text].

  18. 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].

  19. Haliasos EC, Kerner M, Jaimes-Lopez N, Rudnicka L, Zalaudek I, Malvehy J, et al. Dermoscopy for the pediatric dermatologist part I: dermoscopy of pediatric infectious and inflammatory skin lesions and hair disorders. Pediatr Dermatol. 2013 Mar-Apr. 30(2):163-71. [Medline].

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

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

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

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  24. 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. 2005 Feb. 52(2):224-32. [Medline].

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

  26. Rakowska A, Górska R, Rudnicka L, Zadurska M. Trichoscopic Hair Evaluation in Patients with Ectodermal Dysplasia. J Pediatr. 2015 Apr 30. [Medline].

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

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