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photosensitive trichothiodystrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

photosensitive trichothiodystrophy

MONDO:0002470

Also known as:trichothiodystrophytrichothiodystrophy with congenital ichthyosisIBIDS syndrome

Find Clinical TrialsTrials

Overview

A trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway

OnsetINFANTILE, CONGENITAL

Clinical Trials1 registered · 1 recruiting

Diagnosis

Biomarker and diagnostic research for photosensitive trichothiodystrophy has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

40 publications have been identified in PubMed for photosensitive trichothiodystrophy. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (30%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Patient case studies	13	33%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 10:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:453

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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photosensitive trichothiodystrophy

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications