Living with Trichodysplasia-xeroderma syndrome
An extremely rare genetic condition with sparse, brittle, dry hair and dry skin from birth.
Understanding Trichodysplasia-xeroderma syndrome
Scalp hair is sparse, coarse, brittle, very dry, and slow-growing. Underarm and pubic hair, eyelashes, and eyebrows are sparse or missing, and the skin is dry. It is noticed at birth. GARD says there have been no further descriptions in the medical literature since 1987.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sparse, slow-growing scalp hair
- Brittle, coarse hair
- Flattened, twisted hair (pili torti)
- Sparse eyebrows and body hair
- Dry skin
- Hair breaks easily (trichorrhexis nodosa)
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 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.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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, but it doesn't name a specific gene.
Also known as: trichodysplasia-xeroderma
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Trichodysplasia-xeroderma syndrome.
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