| Autor: |
Sperelakis‐Beedham, Brian, Ruaud, Lyse, Vial, Yoann, Rachid, Myriam, Ageorges, Faustine, Goujon, Louise, Verloes, Alain, Tabet, Anne‐Claude, Bourrat, Emmanuelle, Lévy, Jonathan |
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| Zdroj: |
Journal of the European Academy of Dermatology & Venereology; Mar2024, Vol. 38 Issue 3, pe222-e226, 5p |
| Abstrakt: |
This article presents a case study of two brothers with a rare genetic disorder called trichothiodystrophy (TTD). The brothers exhibited mild hair and skin anomalies, which is atypical for TTD, as well as neurodevelopmental symptoms. Genetic testing revealed a new variant in the GTF2E2 gene associated with TTD. The study emphasizes the importance of using polarized light microscopy as a diagnostic tool for TTD. Additionally, the document includes a table summarizing the features and characteristics of a condition called Ichthyosis, including symptoms, neurological features, laboratory findings, and other associated features. The authors express gratitude to the patients and their families for their participation and acknowledge the support of the Robert-Debré University Hospital. The research was conducted within the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability, with no reported funding or conflicts of interest. [Extracted from the article] |
| Databáze: |
Complementary Index |
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