Living with Syndromic recessive X-linked ichthyosis
X-linked ichthyosis (dry, scaly skin) that comes with other health features such as learning and development differences.
Understanding Syndromic recessive X-linked ichthyosis
Ichthyosis means dry, scaly skin. In these cases the skin condition is part of a wider syndrome. Features can include developmental delay, intellectual disability, attention problems, and eye changes. Signs may begin in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dry, scaly skin (ichthyosis)
- Thickened skin
- Delayed development
- Intellectual disability
- Attention problems (ADHD)
- Cloudy cornea
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
Foundation for Ichthyosis and Related Skin Types 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: 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
Changes in genes (variants) cause this condition. It is X-linked recessive, meaning the gene is on the X chromosome. GARD doesn't list which gene.
Also known as: recessive x-linked ichthyosis with extracutaneous manifestations; syndrome associated with recessive x-linked ichthyosis; syndromic rxli; syndromic x-linked ichthyosis
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesSyndromic recessive X-linked ichthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Syndromic recessive X-linked ichthyosis.
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