Living with Autosomal recessive congenital ichthyosis 4A
An inherited skin condition that causes scaling over the whole body, with thick skin on the palms and soles.
Understanding Autosomal recessive congenital ichthyosis 4A
There are two main types of ARCI. One causes red skin with white scales. The other, lamellar ichthyosis, causes large, dark scales with no redness. Most babies are born with a tight, shiny covering on the skin (collodion membrane). The condition affects only the skin, and some people also have hair loss and reduced sweating.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Red skin with scaling
- Eyelids that turn outward (ectropion)
- Thick skin on the palms and soles
- Clubbing of fingers and toes (less common)
- White color change in nails (less common)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 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
- A doctor familiar with rare conditions, plus specialists as needed
- 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
- 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
ARCI is inherited and is caused by changes in several genes. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.
Also known as: arci4a; autosomal recessive congenital ichthyosis type 4a; ichthyosis congenita iib; ichthyosis, congenital, autosomal recessive type 4a; icr2b; lamellar ichthyosis 2
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesAutosomal recessive congenital ichthyosis 4A · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive congenital ichthyosis 4A.
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