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更新于：2025-05-07

Trichothiodystrophy Syndromes

毛发硫营养不良综合征

更新于：2025-05-07

基本信息

别名

ABHS、AMISH BRITTLE HAIR BRAIN SYNDROME、Amish Brittle Hair Brain Syndrome

+ [76]

简介

Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a NUCLEOTIDE EXCISION REPAIR defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.

关联

项与毛发硫营养不良综合征相关的药物

Oxiracetam

奥拉西坦

靶点

GRIA2

作用机制

GRIA2 正变构调节剂

在研机构

湖南健朗药业有限责任公司 [+2]

原研机构-

在研适应症

脑损伤 [+2]

非在研适应症

围手术期缺血 [+1]

最高研发阶段批准上市

首次获批国家/地区

意大利

首次获批日期1987-01-01

项与毛发硫营养不良综合征相关的临床试验

NCT05972512

/ CompletedN/AIIT

A Randomized, Double-Blind, Placebo-Controlled, Safety, and Efficacy Study of Plant Based Biotin and Plant Based Biotin with Silica in Healthy Adult Human Subjects with Complaints of Hair Fall Thin, Dry, & Brittle Hair, and Dry Skin

A randomized, double-blind, three-arm, placebo-controlled, safety, and efficacy study of plant-based Biotin and plant-based Biotin with Silica in healthy adult human subjects with complaints of hair fall, thin, dry, and brittle hair, and dry skin.
A sufficient number (maximum of 105 (35 subject/test treatment)) of female/male adult subjects will be recruited/enrolled to ensure a total of 96 subjects (32 subjects/test treatment) complete the study.

开始日期2023-08-22

申办/合作机构-

NCT05800496

/ CompletedN/AIIT

A Proof-of-Concept, Placebo-Controlled, Safety, and Efficacy Study of Plant Based Biotin in Healthy Adult Human Subjects With Thin, Dry, and Brittle Hair

This is a randomized, placebo-controlled, double-blind, two-arm, single-centre, proof-of-concept, clinical study to evaluate the safety and efficacy of Plant based Biotin in Healthy Human Subjects with thin, dry, and brittle hair.
a sufficient number (maximum of 54 (27/arm)) of female/male adult subjects were recruited/enrolled to ensure a total of 50 subjects (25 subjects/arm) completed the study.

开始日期2022-10-31

申办/合作机构-

NCT05484570

/ RecruitingN/AIIT

Natural History Study for DNA Repair Disorders

This will be a single-center, single-arm, non-interventional natural history study to evaluate the longitudinal clinical course, functional outcome measures, and candidate biomarkers for individuals with DNA repair disorders, including Cockayne syndrome (CS), xeroderma pigmentosum (XP), and trichothiodystrophy (TTD).

开始日期2022-10-01

申办/合作机构

University of Minnesota

100 项与毛发硫营养不良综合征相关的临床结果

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100 项与毛发硫营养不良综合征相关的转化医学

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0 项与毛发硫营养不良综合征相关的专利（医药）

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626

项与毛发硫营养不良综合征相关的文献（医药）

2025-10-01·Archivos Argentinos de Pediatria

Trichothiodystrophy type 3 with a mutation in the GTF2H5 gene: A case report in Argentina

作者: Dri, Jimena ; Dos Santos, Eugenia ; Fernández, Adriana ; Guillamondegui, María J ; Galdeano, Florencia ; Gatica, Cristina

Trichothiodystrophy is a rare neuroectodermal defect characterized by sparse and brittle hair, photosensitivity, intellectual disability, and short stature. With an incidence of 1.2 per million in Western countries, half of the reported cases have clinical and cellular photosensitivity associated with mutations in three subunits of the general transcription factor IIH complex, which is involved in transcription and nucleotide excision repair. Six patients with GTF2H5 mutations have been reported; this is the first report in Argentina. The patient was diagnosed at 3 years of age by "tiger tail banding" on polarized light microscopy, and at 9 years of age, it was confirmed by molecular biology. She presented growth retardation with more severe stunting and underweight than reported. Given the low prevalence and high clinical heterogeneity, a high index of suspicion is required for early diagnosis, interdisciplinary management, and genetic counseling.

2025-05-01·Journal of Investigative Dermatology

Deep Learning–Based Classification of Early-Stage Mycosis Fungoides and Benign Inflammatory Dermatoses on H&E-Stained Whole-Slide Images: A Retrospective, Proof-of-Concept Study

Article

作者: Vermeer, Maarten H ; Valkema, Pieter A ; Jansen, Patty M ; Hondelink, Liesbeth M. ; He, Junling ; Kers, Jesper ; Jansen, Patty M. ; Valkema, Pieter A. ; Schrader, Anne M R ; Sequeira, Ana M. ; Verbeek, Fons J. ; Vermeer, Maarten H. ; Hondelink, Liesbeth M ; Brussee, Siemen ; Doeleman, Thom ; Quint, Koen D. ; Schrader, Anne M.R. ; Quint, Koen D ; van Dijk, Marijke R. ; Verbeek, Fons J ; van Dijk, Marijke R ; Westerbeek, Daniëlle W F ; Westerbeek, Daniëlle W.F. ; Sequeira, Ana M

The diagnosis of early-stage mycosis fungoides (MF) is challenging owing to shared clinical and histopathological features with benign inflammatory dermatoses. Recent evidence has shown that deep learning (DL) can assist pathologists in cancer classification, but this field is largely unexplored for cutaneous lymphomas. This study evaluates DL in distinguishing early-stage MF from benign inflammatory dermatoses using a unique dataset of 924 H&E-stained whole-slide images from skin biopsies, including 233 patients with early-stage MF and 353 patients with benign inflammatory dermatoses. All patients with MF were diagnosed after clinicopathological correlation. The classification accuracy of weakly supervised DL models was benchmarked against 3 expert pathologists. The highest performance on a temporal test set was at ×200 magnification (0.50 μm per pixel resolution), with a mean area under the curve of 0.827 ± 0.044 and a mean balanced accuracy of 76.2 ± 3.9%. This nearly matched the 77.7% mean balanced accuracy of the 3 expert pathologists. Most (63.5%) attention heatmaps corresponded well with the pathologists' region of interest. Considering the difficulty of the MF versus benign inflammatory dermatoses classification task, the results of this study show promise for future applications of weakly supervised DL in diagnosing early-stage MF. Achieving clinical-grade performance will require larger multi-institutional datasets and improved methodologies, such as multimodal DL with incorporation of clinical data.

2025-04-02·RETINAL Cases & Brief Reports

Retinal dystrophy as an unusual manifestation of trichothiodystrophy

Article

作者: Omote, Daniel Queiroz ; Correia de Pinho, Paula Dandara ; Dourado, Fernanda Galante ; Gianotti Pimentel, Sergio Luis

Purpose:Describe a case of retinal dystrophy as an ophthalmological manifestation of Trichothiodystrophy in a young patient.Methods:Multimodal retinal imaging evaluation was performed, with color fundus photograph, fundus autofluorescence, fluorescein angiography, optical coherence tomography and electroretinogram. Genetic testing confirmed the systemic diagnosis.Results:Genetic testing confirmed the diagnosis of Trichothiodystrophy, and retinal dystrophy was considered a rare manifestation of the systemic disease.Conclusion:Ophthalmological manifestations in Trichothiodystrophy are variable, with cataracts and refractive errors being the most reported although our case had a retinal dystrophy. Retinal degeneration is not typically considered a hallmark of TTD but should be considered as a rare ophthalmological manifestation in this syndromic disease.

项与毛发硫营养不良综合征相关的新闻（医药）

2025-04-15

·ioncology

刘健教授：双获益，再升级，SG治疗HR+/HER2-晚期乳腺癌取得PFS、OS获益，《CSCO BC指南》予以Ⅱ级推荐（1A）

点击上方蓝字关注我们编者按：2025年4月11日-13日，全国乳腺癌大会在北京隆重召开，汇聚了国内外知名专家，共同探讨乳腺癌前沿进展。会上，《中国临床肿瘤学会（CSCO）乳腺癌诊疗指南2025》（《CSCO BC指南2025》）将Trop-2 抗体偶联药物（ADC）戈沙妥珠单抗（SG）应用于CDK4/6i经治HR+/HER2 低表达晚期乳腺癌患者的推荐等级由Ⅲ级推荐提升为Ⅱ级推荐，证据级别也提升为1A。此次推荐升级主要基于TROPiCS-02研究及EVER-132-002研究取得的无进展生存期（PFS）和总生存期（OS）的双重获益。《肿瘤瞭望》特别采访福建省肿瘤医院刘健教授，分享SG疗效双获益及安全性表现，展望未来循证证据提升方向。01《肿瘤瞭望》：基于TROPiCS-02研究及EVER-132-002研究的循证医学证据支持，SG成为了《CSCO BC指南》推荐的首个用于HR+乳腺癌的Trop-2 ADC。请问您如何看待这一推荐？刘健教授：《CSCO BC指南》推荐对于CDK4/6i经治的HR+/HER2-low晚期乳腺癌患者，SG为Ⅱ级推荐，1A类证据（图1）[1]，主要是因为SG是当前唯一在HR+/HER2-晚期乳腺癌取得PFS与OS双重获益的Trop-2 ADC，循证详实可靠。图1. 《CSCO BC指南》对CDK4/6i经治HR+/HER2-low患者治疗推荐TROPiCS-02研究[2,3,4]证实了SG在全球HR+/HER2-人群取得了OS、PFS双重获益。对于100% CDK4/6i经治、2-4 线化疗经治的晚期HR+/HER2-乳腺癌患者，SG 与医生选择的治疗方案（TPC）的mPFS为5.5个月 vs 4.0个月，HR为0.66，（95%CI：0.53-0.83），P=0.0003；mOS为14.4个月 vs 11.2个月，HR为0.79（95%CI：0.65-0.96），P=0.020（图2）。亚组分析显示，无论Trop-2表达水平高低、HER2 IHC 0还是HER2-low，SG均能改善患者的生存获益。图2. TROPiCS-02研究的PFS与OSEVER-132-002研究[5]也证实了SG在中国HR+/HER2-乳腺癌患者所取得的PFS及OS双重获益。这是一项由徐兵河院士领衔的Ⅲ期、多中心、随机对照的桥接研究，针对亚洲人群，其中有70%来自中国大陆。研究要求患者既往接受过2-4次系统性化疗，不限制既往CDK4/6i的应用，其中49%为CDK4/6i经治患者。按1:1随机分组后分别予以SG或TPC治疗。SG组较TPC组明显改善了盲法独立中心评审委员会（BICR）评估的mPFS为4.3个月vs 4.2个月，HR为0.67（95%CI 0.52-0.87），P=0.0028，6个月、9个月和12个月PFS率方面均显著提升近2倍； mOS分别为21.0个月vs.15.3个月，HR值是0.64，（95%CI 0.47-0.88），P=0.0061（图3）。图3. EVER-132-002研究的PFS、OS结果在后CDK4/6i时代，CDK4/6i耐药后治疗方案取得OS获益较为罕见，SG为临床治疗带来了PFS和OS双重获益的突破性成果，谱写了新的治疗格局。02《肿瘤瞭望》在疗效获益的基础上，SG在HR+乳腺癌应用的安全性如何？临床实践中有哪些注意事项？刘健教授：在安全性方面：通过 TROPiCS-02 和 EVER-132-002 研究，显示出了一致的安全性表现。EVER-132-002研究[5]显示，SG组与TPC组因治疗相关不良事件导致停药的比例分别为3%和4%，耐受性好。SG主要以血液学毒性、腹泻为主，未发生间质性肺炎、眼毒性等需要特殊关注的不良反应，临床管理经验成熟，安全可控。SG血液学毒性可通过相应的细胞因子二级预防或对症治疗处理；腹泻可通过补液及止泻对症处理，临床应对经验丰富，安全性非常好。在生活质量方面，两项关键性研究也一致显示了显著的改善。2024 圣安东尼奥乳腺癌研讨会（SABCS）公布了TROPiCS-02研究与EVER-132-002研究的生活质量荟萃分析[6]，结果显示，对于CDK4/6i经治人群以及全人群，欧洲癌症研究与治疗组织生活质量问卷（EORTC QLQ C-30）评分显示，SG较TPC在总体健康状况评分（GHS/QOL）、身体功能、情绪功能、疲劳、疼痛、呼吸困难方面均显著改善了到首次症状恶化时间（TTD），而在恶心呕吐、腹泻方面SG的TTD则劣于TPC。同时，SG较TPC在经济方面、五水平五维健康量表（EQ-5D-5L）视觉模拟评分（VAS）方面也取得了改善[6]，也为患者带来了整体生活质量的提升（图4）[7]。图4. TROPiCS-02研究中SG组与TPC组带来GHS/QOL临床意义改善患者的比例03《肿瘤瞭望》：从机制角度而言，SG取得OS与PFS双重疗效获益和安全性的基础是什么？刘健教授：SG的疗效及安全性来源于其药物结构设计及作用机理。SG抗体部分是靶向Trop-2的人源化单克隆抗体hRS7。hRS7的解离常数（KD）值为0.3nM，具有较高的抗原亲和力，可以更精准地将细胞毒药物送到Trop-2过表达的癌细胞中，降低了不良反应的发生。SG的 pH 敏感的可裂解连接子CL2A在血液中保持稳定，到达病灶后，可在肿瘤细胞溶酶体和肿瘤微环境中释放细胞毒载荷SN-38，杀伤靶细胞和临近肿瘤细胞，发挥双重“旁观者效应”。SG药物抗体比高达7.6:1，细胞毒载荷高，抗肿瘤活性强，且能进一步增强旁观者效应。从而为患者的生存获益奠定了基础。04《肿瘤瞭望》：在您看来，SG的OS与PFS双重疗效获益是否可以推动其在临床应用的优先级提升？为了进一步提升指南推荐等级，您有哪些建议？刘健教授：基于循证证据及SG今年 3 月份在我国HR+/HER2-晚期乳腺癌适应症的获批，SG在指南的推荐地位稳步提升。这是继mTNBC 之后 SG 的第二个乳腺癌适应症。SG也是当前HR+/HER2-晚期乳腺癌、内分泌及系统治疗经治人群中唯一同时实现PFS和OS双显著改善的Trop-2 ADC药物，尤其是OS的延长在CDK4/6i经治患者中具有里程碑意义。SG在安全性及生活质量的表现给患者带来了更好的治疗体验，且Trop-2 在乳腺癌细胞中广泛表达，无需进行相关检测，治疗更加便捷，提升了医患用药信心。为进一步提升指南推荐，建议推进SG在中国的真实世界研究，取得长期生存分析结果；或者SG与其他治疗策略进行比较，验证治疗线序并优化排兵布阵；并进一步扩大其在中国的可及性，进而实现指南推荐级别的提升。参考文献上下滑动查看更多内容[1] 江泽飞. 中国临床肿瘤学会（CSCO）乳腺癌诊疗指南（2025版）更新解读. 2025 全国乳腺癌大会. 2025.04.[2] Rugo HS, Bardia A, Marmé F, et al. Overall survival with sacituzumab govitecan in hormone receptor-positive and human epidermal growth factor receptor 2-negative metastatic breast cancer (TROPiCS-02): a randomised, open-label, multicentre, phase 3 trial. Lancet. 2023 Aug 23:S0140-6736(23)01245-X. doi: 10.1016/S0140-6736(23)01245-X.[3] Rugo HS, Bardia A, Marmé F, et al. Sacituzumab Govitecan in Hormone Receptor-Positive/Human Epidermal Growth Factor Receptor 2-Negative Metastatic Breast Cancer. J Clin Oncol. 2022;40(29):3365-3376. doi:10.1200/JCO.22.01002[4] Schmid, P. et al. 214MO Sacituzumab govitecan (SG) efficacy in hormone receptor-positive/human epidermal growth factor receptor 2-negative (HR+/HER2–) metastatic breast cancer (MBC) by HER2 immunohistochemistry (IHC) status in the phase III TROPiCS-02 study. 2022ESMO 214MO. Annals of Oncology, Volume 33, S635 - S636.[5] Xu B, Wang S, Yan M, et al. Sacituzumab govitecan in HR+HER2- metastatic breast cancer: the randomized phase 3 EVER-132-002 trial. Nat Med. 2024 Oct 1. doi: 10.1038/s41591-024-03269-z.[6] Rugo HS, Xu B, et al. P2-07-19: Health-Related Quality of Life with Sacituzumab Govitecan versus Treatment of Physicians Choice in Previously Treated Hormone Receptor-Positive/HER2-Negative Metastatic Breast Cancer: A Meta-Analysis of TROPiCS-02 and EVER-132-002 Trials. 2024 SABCS abs#661[7] Rugo HS, Schmid P, Tolaney SM, et al. Health-related quality of life with sacituzumab govitecan in HR+/HER2- metastatic breast cancer in the phase III TROPiCS-02 trial [published correction appears in Oncologist. 2025 Mar 10;30(3):oyae370. doi: 10.1093/oncolo/oyae370.]. Oncologist. 2024;29(9):768-779. doi:10.1093/oncolo/oyae088刘健教授乳腺肿瘤内科主任福建省人大常委、民进福建省委副主委福建省保健委专家福建省卫健委肿瘤化学治疗质量控制中心主任福建省医学会乳腺病学分会主任委员福建省医师协会肿瘤内科医师分会主任委员中国医师协会乳腺疾病专家培训委员会副主任委员中国初级保健智慧与健康基金会乳腺疾病分会副主任委员中国人体健康科技促进会乳腺疾病分会副主任委员福建省红十字会大病救助基金监委会副主任委员福建省医学会罕见病分会副主任委员中国抗癌协会乳腺癌专业委员会常务委员中国临床肿瘤学会（CSCO）乳腺癌专业委员会常务委员中国临床肿瘤学会肿瘤心脏病学专家委员会常务委员《医学参考（乳腺频道）》常务编委国家卫生计生委合理用药专家委员会乳腺肿瘤组委员兼秘书国家肿瘤质控中心乳腺癌专家委员会委员国家抗肿瘤药物临床应用监测专家委员会委员中华医学会肿瘤学分会乳腺学组委员中华预防医学会妇幼保健分会乳腺学组委员中国医师协会肿瘤医师分会委员中国临床肿瘤学会人工智能乳腺癌规范化诊疗项目首席专家《JCO中文版乳腺肿瘤专刊》《中华内分泌外科杂志》《肿瘤学杂志》《欧洲肿瘤年鉴中文版（乳腺癌）》《中华肿瘤杂志》《临床肿瘤学杂志》《中国肿瘤》编委（来源：《肿瘤瞭望》编辑部）声明凡署名原创的文章版权属《肿瘤瞭望》所有，欢迎分享、转载。本文仅供医疗卫生专业人士了解最新医药资讯参考使用，不代表本平台观点。该等信息不能以任何方式取代专业的医疗指导，也不应被视为诊疗建议，如果该信息被用于资讯以外的目的，本站及作者不承担相关责任。

CSCO会议抗体药物偶联物临床结果临床3期