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Last update 08 May 2025

Trichothiodystrophy Syndromes

Last update 08 May 2025

Basic Info

Synonyms

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

+ [76]

Introduction

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.

Drugs associated with Trichothiodystrophy Syndromes

Oxiracetam

Target

GRIA2

Mechanism

GRIA2 positive allosteric modulator

Active Org.

Hunan Jianlang Pharmaceutical Co. Ltd. [+2]

Originator Org.-

Active Indication

Brain Injuries [+2]

Inactive Indication

Perioperative ischaemia [+1]

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

Italy

First Approval Date01 Jan 1987

Clinical Trials associated with Trichothiodystrophy Syndromes

NCT05972512

/ CompletedNot ApplicableIIT

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.

Start Date22 Aug 2023

Sponsor / Collaborator-

NCT05800496

/ CompletedNot ApplicableIIT

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.

Start Date31 Oct 2022

Sponsor / Collaborator-

NCT05484570

/ RecruitingNot ApplicableIIT

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).

Start Date01 Oct 2022

Sponsor / Collaborator

University of Minnesota

100 Clinical Results associated with Trichothiodystrophy Syndromes

100 Translational Medicine associated with Trichothiodystrophy Syndromes

0 Patents (Medical) associated with Trichothiodystrophy Syndromes

626

Literatures (Medical) associated with Trichothiodystrophy Syndromes

01 Oct 2025·Archivos Argentinos de Pediatria

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

Author: 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.

01 May 2025·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

Author: 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.

02 Apr 2025·RETINAL Cases & Brief Reports

Retinal dystrophy as an unusual manifestation of trichothiodystrophy

Article

Author: 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.

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Trichothiodystrophy Syndromes

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