Trichothiodystrophy without associated neuroectodermal defects
| Autor: | Behrendt H, Hoting E, Tomczok J, Peter C |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
inorganic chemicals
Pathology medicine.medical_specialty Hair breakage Trichothiodystrophy Cystine Dermatology chemistry.chemical_compound otorhinolaryngologic diseases medicine Humans skin and connective tissue diseases integumentary system Ichthyosis business.industry medicine.disease Hair follicle medicine.anatomical_structure chemistry Child Preschool Microscopy Electron Scanning Female sense organs Congenital disease Hair Diseases business Sulfur Hair |
| Zdroj: | British Journal of Dermatology. 139:137-140 |
| ISSN: | 1365-2133 0007-0963 |
| DOI: | 10.1046/j.1365-2133.1998.02331.x |
| Popis: | Trichothiodystrophy leading to generalized trichorrhexis nodosa-like hair changes with abnormal hair breakage is described in a 4-year-old girl. A marked deficiency of sulphur and the sulphur-containing amino acid, cystine, was detected in the biochemical analysis of the hair. Further investigation of the hair showed the morphological criteria of trichothiodystrophy. Commonly related symptoms, such as mental retardation, ichthyosis and increased sensitivity to sunlight, were not present in our patient. |
| Databáze: | OpenAIRE |
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