Features include always present findings: Cutaneous photosensitivity, Dry, scaly skin (ichthyosis), Coarse hair, and Tiger tail banding and others; and common findings: Short stature and Agenesis of maxillary lateral incisor. 8 total HPO annotations.

ERCC3 encodes ERCC excision repair 3, TFIIH core complex helicase subunit (782 aa). ATP-dependent 3'-5' DNA helicase/translocase. Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity. Highest expression in Brain Cerebellar Hemisphere (90.1 TPM) and Brain Cerebellum (88.4 TPM).

Trichothiodystrophy 2, photosensitive is associated with mutations in the ERCC3 gene on chromosome 2.

The ERCC3 protein participates in ERCC2 and ERCC3 DNA helicases form an open bubble structure in damaged DNA, ERCC3-facilitated RNA Pol II backtracking in TC-NER, and ERCC2-facilitated RNA Pol II backtracking in TC-NER pathways.

ERCC3 is classified as a druggable target (Clinically Actionable, Dna Repair, Enzyme, Kinase, and Transcription Factor categories) with score 13.1.

Genetic testing for ERCC3 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 5 always present features, 2 common features.

No clinical trials have been registered for trichothiodystrophy 2, photosensitive.

3 publications have been identified in PubMed for trichothiodystrophy 2, photosensitive. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

• Dri J (2025). [PMID: 40168358](https://pubmed.ncbi.nlm.nih.gov/40168358/). *Archivos argentinos de pediatria*. [Case Report / Case Series]

• Nakazawa Y (2025). [PMID: 39704188](https://pubmed.ncbi.nlm.nih.gov/39704188/). *FEBS letters*. [Review / Meta-Analysis]

• Saluja A (2024). [PMID: 38975443](https://pubmed.ncbi.nlm.nih.gov/38975443/). *Cureus*. [Case Report / Case Series]