trichodysplasia-xeroderma syndrome
Findings
No curated finding names trichodysplasia-xeroderma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987.
Definition from the Mondo Disease Ontology (MONDO:0008598), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brittle hairHPOHP:0002299
- Very frequent (80% to 99% of cases)
- Coarse hairHPOHP:0002208
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- Pili tortiHPOHP:0003777
- Very frequent (80% to 99% of cases)
- Sparse eyebrowHPOHP:0045075
- Very frequent (80% to 99% of cases)
- Sparse scalp hairHPOHP:0002209
- Very frequent (80% to 99% of cases)
- Trichodysplasia
Where it sits
- A kind of