A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts.
- Author:
Sooyeon KIM
1
;
Seungbae PARK
;
Myung IM
;
Youngjoon SEO
;
Jeunghoon LEE
;
Young LEE
Author Information
1. Department of Dermatology, Chungnam National University School of Medicine, Daejeon, Korea. resina20@cnuh.co.kr
- Publication Type:Case Report
- Keywords:
Sulfur;
Trichothiodystrophy
- MeSH:
Amino Acids;
Child;
Cystine;
Hair;
Humans;
Light;
Microscopy;
Parturition;
Phenotype;
Sulfur;
Trichothiodystrophy Syndromes
- From:Korean Journal of Dermatology
2011;49(1):36-39
- CountryRepublic of Korea
- Language:Korean
-
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.
