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Trichothiodystrophy is a congenital disorder that involves production of abnormal, brittle hair. The hair complications are usually only part of the disease. Frequently, trichothiodystrophy also involves problems with hair related structures such as the teeth, eyes (cataracts) and nails (onchodystrophy). It can also involve stunted growth, mental retardation, skin sensitivity to light and skin ichthyosis. There are several different forms of trichothiodystrophy and occasionally some individuals are reported as having the brittle hair symptom but without any other symptoms.

Brittle hair is one of the diagnostic markers for trichothiodystrophy. The individual has what looks like sparse short hair growth over the scalp and elsewhere on the body. Under the microscope the hair can be seen to have a squashed oval shape in cross section, an irregular diameter along its length, has abnormal or no cuticle, and with abnormal irregular pigment incorporation along its length. Where trichothiodystrophy is suspected, hair samples are often tested for sulfur content and cysteine amino acid content. Trichothiodystrophy affected hair has only around 50% of the sulfur and cysteine content found in normal hair.

The hair follicles of trichothiodystrophy affected individuals are all fully functioning but the hair is so brittle that once it emerges from the skin and becomes exposed to the environment trichorrhexis nodosa, trichoclasis, and trichoschisis occur in the hair fibers. The breakage and fracturing in the brittle hair result in the short, sparse appearance.

Treatment is very difficult as trichothiodystrophy is a genetic disease. It seems that the genes for processing and utilizing sulfur in the body are not functioning properly. Some recent research suggests that defects in xeroderma pigmentosum group D (XPD) protein gene can lead to trichothiodystrophy, but this is not the whole story. While some individuals with trichothiodystrophy have photosensitivity, like people with xeroderma pigmentosum, not all do. Most likely there are several gene defects that can lead to the development of trichothiodystrophy.

There is no form of gene therapy available now or in the foreseeable future for trichothiodystrophy. Treatment usually involves preventative measures, avoiding excessive hair styling and exposure to light. Some dermatologists also attempt to use cysteine amino acid supplementation in the diet.

Trichothiodystrophy references

  • Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR. Protein Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. Proc Natl Acad Sci U S A. 1997 Aug 5;94(16):8658-63.
  • Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR. Protein Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. Nat Genet. 1994 Jun;7(2):189-94.
  • Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taieb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A. Protein A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. Am J Hum Genet. 1997 Feb;60(2):320-9.
  • Peter C, Tomczok J, Hoting E, Behrendt H. Trichothiodystrophy without associated neuroectodermal defects. Br J Dermatol. 1998 Jul;139(1):137-40.
  • Alfandari S, Delaporte E, van Neste D, Lucidarme-Delespierre E, Piette F, Bergoend H. A new case of isolated trichothiodystrophy. Dermatology. 1993;186(3):197-200.
  • Milligan A, Fletcher A, Porter DI, Hutchinson PE. Trichothiodystrophy. Clin Exp Dermatol. 1991 Jul;16(4):264-7.
  • Venning VA, Dawber RP, Ferguson DJ, Kanan MW. Weathering of hair in trichothiodystrophy. Br J Dermatol. 1986 May;114(5):591-5.
  • Gummer CL, Dawber RP. Trichothiodystrophy: an ultrastructural study of the hair follicle. Br J Dermatol. 1985 Sep;113(3):273-80.
  • Gummer CL, Dawber RP, Price VH. Trichothiodystrophy: an electron-histochemical study of the hair shaft. Br J Dermatol. 1984 Apr;110(4):439-49.
  • Price VH, Odom RB, Ward WH, Jones FT. Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol. 1980 Dec;116(12):1375-84.
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