Living with Dermatoleukodystrophy
A rare condition with thick, wrinkled skin from birth and severe nervous system problems that start in childhood.
Understanding Dermatoleukodystrophy
In childhood, people develop rapidly worsening problems with thinking and movement. Brain examination shows loss of nerve fibers and their protective covering (myelin). GARD lists onset in the newborn period, and it is autosomal recessive.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Thickened skin
- Thickening of the outer skin layer (hyperkeratosis)
- Intellectual disability
- Increased reflexes
- Reduced tendon reflexes
- Differences in the nervous system
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, 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
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: United Leukodystrophy Foundation
- 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 United Leukodystrophy 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 doesn't name a gene. It lists autosomal recessive inheritance, so a child inherits a changed copy of the gene from each parent.
Also known as: cutis laxa-leukodystrophy
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dermatoleukodystrophy.
Explore research for Dermatoleukodystrophy
Explore actively recruiting Dermatoleukodystrophy studies with HealthSpark.
Find actively recruiting studies for Dermatoleukodystrophy 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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