التفاصيل البيبلوغرافية
| العنوان: |
Tufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy. |
| المؤلفون: |
Diociaiuti, A., Carnevale, C., Bassi, A., Rossi, S., Pisaneschi, E., Zambruno, G., El Hachem, M. |
| المصدر: |
Journal of the European Academy of Dermatology & Venereology; Jun2024, Vol. 38 Issue 6, pe462-e464, 3p |
| مصطلحات موضوعية: |
GONADAL dysgenesis, HAIR, ECZEMA, POLARIZATION microscopy |
| مستخلص: |
This article discusses a previously undescribed clinical hair appearance at birth in patients with trichothiodystrophy (TTD) due to ERCC2/XPD mutations. TTD is a rare genetic disorder characterized by hair abnormalities and a wide range of skin and extracutaneous manifestations. The article presents three cases of newborns with TTD who exhibited sparse, spongy, and brittle hair braided in tufts at birth. This unique hair pattern may serve as an early indicator of TTD in newborns with ichthyosis. Further studies are needed to confirm the specificity of this finding. [Extracted from the article] |
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| قاعدة البيانات: |
Complementary Index |