Living with Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
A rare genetic condition that combines multiple sclerosis, dry scaly skin, and blood differences, starting in childhood.
Understanding Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
This condition combines multiple sclerosis with lamellar ichthyosis (dry, scaly skin) and blood differences, including beta thalassemia minor and low levels of a clotting protein (factor VIII). Eye problems, balance and movement problems, and changes in sensation may also occur. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dry, scaly skin (ichthyosis)
- Balance and coordination problems (ataxia)
- Double vision (diplopia)
- Optic atrophy (damage to the eye nerve)
- Changes in walking (gait disturbance)
- Dizzy spells (vertigo)
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 blood and bone marrow 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
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: 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 Foundation for Ichthyosis and Related Skin Types 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 how it is inherited.
Also known as: multiple sclerosis, ichthyosis, factor viii deficiency syndrome
Patient organizations
- 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 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome.
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