Living with Ichthyosis, cerebellar degeneration and hepatosplenomegaly
A rare condition with scaly skin, an enlarged liver and spleen, and balance and coordination problems.
Understanding Ichthyosis, cerebellar degeneration and hepatosplenomegaly
Coordination problems (cerebellar ataxia) appear later in life. GARD says the condition has been described in two brothers. Signs may begin in the newborn period or infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Scaly, dry skin (ichthyosis)
- Poor balance and coordination (ataxia)
- Walking problems
- Speech changes
- Enlarged liver and spleen
- Memory and thinking problems (dementia)
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
National Ataxia Foundation and Foundation for Ichthyosis and Related Skin Types 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: National Ataxia Foundation, Foundation for Ichthyosis and Related Skin Types
- 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 Ataxia 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 cause this condition. It is passed on in an autosomal recessive or an X-linked pattern.
Also known as: dykes-markes-harper syndrome; dykes-marks-harper syndrome; ichthyosis hepatosplenomegaly cerebellar degeneration; ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Patient organizations
- National Ataxia FoundationAtaxia · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ichthyosis, cerebellar degeneration and hepatosplenomegaly.
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