A Case of Trichothiodystrophy with a Low Sulfur Level in the Hair Shafts / 대한피부과학회지
Korean Journal of Dermatology
; : 36-39, 2011.
Article
en Ko
| WPRIM
| ID: wpr-97445
Biblioteca responsable:
WPRO
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.
Palabras clave
Texto completo:
1
Banco de datos:
WPRIM
Asunto principal:
Fenotipo
/
Azufre
/
Cistina
/
Parto
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Síndromes de Tricotiodistrofia
/
Aminoácidos
/
Cabello
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Luz
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Microscopía
Límite:
Child
/
Humans
Idioma:
Ko
Revista:
Korean Journal of Dermatology
Año:
2011
Tipo del documento:
Article