Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

trichodysplasia-xeroderma syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichodysplasia-xeroderma syndrome

MONDO:0008598

Also known as:trichodysplasia xeroderma

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Dry skin, Coarse hair, Sparse scalp hair, and Brittle hair and others; and common findings: Alopecia and Sparse body hair.

Organ System	Phenotype Count	Example Features
Skin	2	Dry skin, Alopecia

Explore clinical features

Prognosis

Phenotype severity distribution: 8 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 7:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:190360

Orphanet

European rare disease database

Orphanet:3361

GARD

Genetic and Rare Diseases Info Center

GARD:5261

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

trichodysplasia-xeroderma syndrome

Overview

Clinical Presentation

Explore clinical features

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team