Living with Pili torti
A rare hair condition with fragile, flattened and twisted hair, which can occur alone or with other conditions.
Understanding Pili torti
The twists occur in clusters at irregular spots along the hair. Some cases are inherited, while others are acquired later in life. In the inherited form, signs tend to show up in early childhood. It can occur alone or with other conditions, such as ectodermal dysplasias, Menkes disease, Bjornstad syndrome or Bazex syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Brittle, flattened and twisted hair
- Hair loss (alopecia)
- Changes in hair texture
- Changes in the eyebrows
- Nail changes
- Tooth and tooth enamel changes
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 some cases are inherited in an autosomal dominant or autosomal recessive pattern, and others are acquired. It doesn't name a gene.
Also known as: flattened and twisted hair; pili torti (disease); pili torti, early-onset; pili torti, ronchese type; twisted hair
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 Pili torti.
Explore research for Pili torti
Explore actively recruiting Pili torti studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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