RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
Your saved research and appointment questionsView recorded trial and retraction changes
Trichothiodystrophy: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
RETINAL DYSTROPHY AS AN UNUSUAL MANIFESTATION OF TRICHOTHIODYSTROPHY.
Dourado Fernanda Galante et al., Retinal cases & brief reports (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/40184543/
- 2.
A Case of Isolated Trichothiodystrophy.
Ravichandran Janani et al., Indian dermatology online journal (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41086032/
- 3.
Novel RNF113A Variant Underlying X-Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother.
Rabin Rachel et al., American journal of medical genetics. Part A (1 May 2026)
https://pubmed.ncbi.nlm.nih.gov/41531333/
- 4.
Trichothiodystrophy.
Li Qingyan et al., The British journal of dermatology (19 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41365819/
- 5.
RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.
Khan Sikandar G et al., The Journal of investigative dermatology (1 February 2026)
https://pubmed.ncbi.nlm.nih.gov/40683339/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Trichothiodystrophy
Trichothiodystrophy is a rare inherited condition in which the hair is brittle and low in sulfur, and is often accompanied by dry scaly skin, short stature, developmental delay and recurrent infections. Some people are also very sensitive to sunlight. There is no single treatment, so care focuses on protecting the skin and hair, sun protection, treating infections early and developmental support.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
PURPOSE: Describe a case of retinal dystrophy as an ophthalmologic 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: Ophthalmologic 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 trichothiodystrophy but should be considered as a rare ophthalmologic manifestation in this syndromic disease.
Common Questions
What is Trichothiodystrophy?
Trichothiodystrophy is a rare inherited condition in which the hair is brittle and low in sulfur, and is often accompanied by dry scaly skin, short stature, developmental delay and recurrent infections. Some people are also very sensitive to sunlight. There is no single treatment, so care focuses on protecting the skin and hair, sun protection, treating infections early and developmental support.
How many clinical trials are available for Trichothiodystrophy?
No clinical trials are currently indexed for Trichothiodystrophy. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Trichothiodystrophy come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
Get research updates
Monthly email when new findings are published for Trichothiodystrophy.
Your email and selected disease are stored for these updates. Unsubscribe any time. Privacy and deletion.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.