Living with Dermotrichic syndrome
A rare genetic syndrome affecting skin, hair, and nails, with learning challenges, seizures, and bowel and bone differences.
Understanding Dermotrichic syndrome
It causes thick, scaly skin (ichthyosis), no hair from birth, and curved nails. It also involves reduced sweating, intellectual disability, seizures, short stature, and bowel differences such as a colon missing nerve cells. Facial features can include a prominent forehead and large ears. GARD lists onset in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thick, scaly skin (ichthyosis)
- Reduced sweating (hypohidrosis)
- Intellectual disability
- Enlarged colon lacking nerve cells (aganglionic megacolon)
- Curved toenails
- Differences in the spine bones
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.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias 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 cause this condition. It doesn't list a specific gene or inheritance pattern.
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dermotrichic syndrome.
Explore research for Dermotrichic syndrome
Explore actively recruiting Dermotrichic syndrome studies with HealthSpark.
Find actively recruiting studies for Dermotrichic syndrome with HealthSpark. Share your city to explore research near you.
- 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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