Genetic Counselling Service, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
Rare Skin Diseases Center, Istituto Dermopatico dell'Immacolata, IDI-IRCCS, Rome, Italy.
Mol Genet Genomic Med. 2024 Aug;12(8):e2501. doi: 10.1002/mgg3.2501.
Non-photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as "sulphur-deficient brittle hair" syndromes. A part of them has only recently been identified, revealing novel causative genes and very rare phenotypes of these genetic skin disorders. At the same time, the molecular basis of previously published and unresolved cases has been revealed through the introduction of innovative genetic techniques. We have previously described the facial phenotype of patients with the Photosensitive form of TTD during childhood. This study marks the beginning of an effort to expand the analysis to include individuals of the same age who do not have photosensitivity.
A total of 26 facial portraits of TTD paediatric patients with Non-photosensitivity from the literature were analysed using computer-aided technologies, and their facial features were examined through a detailed clinical review.
Distinct facial features were identified in both Photosensitive and Non-photosensitive TTDs.
The present study has comprehensively elucidated the facial features in TTDs, encompassing the Non-photosensitive clinical spectrum.
非光感性先天性毛发硫营养不良症（TTD）是一组基因皮肤病，属于“硫缺乏性脆发”综合征的亚类。其中一部分最近才被识别，揭示了这些遗传性皮肤疾病的新的致病基因和非常罕见的表型。与此同时，通过引入创新的遗传技术，揭示了以前发表的和未解决病例的分子基础。我们之前描述过 TTD 光感性患者在儿童期的面部表型。本研究标志着努力扩大分析范围，纳入同年龄无光感性的个体的开始。
使用计算机辅助技术对文献中 26 名非光感性 TTD 儿科患者的面部肖像进行了分析，并通过详细的临床回顾检查了他们的面部特征。
在光感性和非光感性 TTD 中都发现了独特的面部特征。
本研究全面阐明了 TTD 的面部特征，包括非光感性临床谱。
