Living with Triglyceride storage disease with ichthyosis
A genetic condition (Chanarin-Dorfman syndrome) in which fats build up in the body and cause dry, scaly skin from birth.
Understanding Triglyceride storage disease with ichthyosis
Fats called triglycerides build up in the skin, liver, muscles, intestine, and bone marrow. People have dry, scaly skin (ichthyosis), usually from birth. Other features can include an enlarged liver, cataracts, hearing loss, short stature, muscle weakness, and intellectual disability. Signs vary a lot, which can delay diagnosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dry, scaly skin (ichthyosis)
- Enlarged liver (hepatomegaly)
- Lower eyelids that turn outward (ectropion)
- Progressive muscle weakness (myopathy)
- Hearing loss (sensorineural)
- Short stature and global developmental delay
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, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ABHD5 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
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); Eye disease specialists (ophthalmologists); 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
This condition is caused by changes in the ABHD5 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cds; chanarin-dorfman disease; chanarin-dorfman syndrome; chanarin-miranda syndrome; dorfman-chanarin disease; ichthyosiform erythroderma with leukocyte vacuolation
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesTriglyceride storage disease with ichthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Triglyceride storage disease with ichthyosis.
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