Living with Autosomal recessive congenital ichthyosis
A group of lifelong skin conditions with scaly skin that starts at birth or in early infancy.
Understanding Autosomal recessive congenital ichthyosis
Scaling and redness are usually present at birth or in early infancy. ARCI includes several forms that vary a lot in how they look and how severe they are, including harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosiform erythroderma. Descriptions of each form help guide care.
Signs & symptoms
GARD describes these main features:
- Scaly skin all over the body
- Skin redness (erythema) that varies
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 eye disease 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
- 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
Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: arci; autosomal recessive ichthyosis; autosomal recessive inherited ichthyosis; ichthyosis, congenital, autosomal recessive; inherited ichthyosis, autosomal recessive
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 Autosomal recessive congenital ichthyosis.
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