Living with Trichothiodystrophy
An inherited condition with sparse, brittle hair that can also affect the skin, growth, and the nervous system.
Understanding Trichothiodystrophy
Hair has too little of certain sulfur-containing proteins, and under a polarizing microscope it shows a 'tiger tail' banding pattern. Mild disease may affect only the hair. More severe disease can cause delayed development, intellectual disability, repeated infections, short height, and brain differences. Some people are very sensitive to sunlight and can sunburn within minutes.
Signs & symptoms
Symptoms vary widely. GARD describes these features:
- Sparse hair that breaks easily
- Delayed development and intellectual disability
- Dry, scaly skin and nail changes
- Cloudy eye lenses (cataracts) present at birth
- Poor coordination and slow growth
- Very sensitive to sunlight in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias, Foundation for Ichthyosis and Related Skin Types and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias, Foundation for Ichthyosis and Related Skin Types, Resolve: The National Infertility Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cockayne Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (variants) cause this condition. It lists both autosomal recessive and X-linked inheritance and doesn't name a gene here.
Also known as: trichothiodystrophy syndrome
Patient organizations
- Cockayne Syndrome FoundationTrichothiodystrophy · United States
- Share & Care Cockayne Syndrome Network Inc.Trichothiodystrophy · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Resolve: The National Infertility AssociationInfertility · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Trichothiodystrophy.
Explore research for Trichothiodystrophy
Explore actively recruiting Trichothiodystrophy studies with HealthSpark.
Find actively recruiting studies for Trichothiodystrophy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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