Korean J Dermatol.
2011 Jan;49(1):36-39.
A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts
- Affiliations
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- 1Department of Dermatology, Chungnam National University School of Medicine, Daejeon, Korea. resina20@cnuh.co.kr
Abstract
- Trichothiodystrophy is a rare autosomal recessive disorder and it is caused by reduced levels of high-sulfur amino acids and most particularly cystine in hair shafts. The patients with trichothiodystrophy show a broad range of clinical phenotypes from only hair involvement to multisystem abnormalities. A 7-year-old girl visited the clinic with a complaint of short, sparse and slow-growing hair, which had been presented since birth. The patient's hair showed characteristic dark and light banding, which gave a "tiger tail" appearance under light microscopy, and polarization and cuticular degeneration were seen under the scanning microscopy. Evaluation of the mineral density in the patient's hair shaft showed a low level of sulfur. We herein report on a case of trichothiodystrophy with sulfur-deficiency in the hair shafts.
