Questions about rare diseases?
1-888-205-2311
Questions about rare diseases?
1-888-205-2311

Disease at a Glance

Summary
Autosomal recessive congenital ichthyosis (ARCI) is a group of skin disorders that cause unusual skin scaling all over the body. There are two main types of ARCI: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). These disorders affect only the skin, and about two-thirds of patients have severe symptoms. However, there can be some overlap in symptoms between patients or within the same patient's family. NCIE is characterized by red skin and white, superficial scales that stick to the skin. Most patients are born with a collodion membrane and have thick skin on the palms and soles of the feet, which can cause pain and loss of pulp volume. Nail problems are common and some patients may experience other issues such as ectropion (eyelids that turn outwards), eclabium (lips that turn outwards), scalp involvement, and loss of eyebrows and lashes. LI is characterized by large, dark, and colored scales with no redness. The scales can be found all over the body, and the skin may be less good at protecting the body. As patients age, the scales can cover the entire body surface, including the folds of their skin, and can vary in size and color. Some patients may also experience hair loss and reduced sweating. ARCI is caused by variation in several genes, and it is an inherited condition.
Summary
Autosomal recessive congenital ichthyosis (ARCI) is a group of skin disorders that cause unusual skin scaling all over the body. There are two main types of ARCI: lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). These disorders affect only the skin, and about two-thirds of patients have severe symptoms. However, there can be some overlap in symptoms between patients or within the same patient's family. NCIE is characterized by red skin and white, superficial scales that stick to the skin. Most patients are born with a collodion membrane and have thick skin on the palms and soles of the feet, which can cause pain and loss of pulp volume. Nail problems are common and some patients may experience other issues such as ectropion (eyelids that turn outwards), eclabium (lips that turn outwards), scalp involvement, and loss of eyebrows and lashes. LI is characterized by large, dark, and colored scales with no redness. The scales can be found all over the body, and the skin may be less good at protecting the body. As patients age, the scales can cover the entire body surface, including the folds of their skin, and can vary in size and color. Some patients may also experience hair loss and reduced sweating. ARCI is caused by variation in several genes, and it is an inherited condition.
Read More
Resource(s) for Medical Professionals and Scientists on This Disease:
  • RARe-SOURCE™  offers rare disease gene variant annotations and links to rare disease gene literature.
  • GeneReviews  provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.

About Ichthyosis, congenital, autosomal recessive 4a

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:This section is currently indevelopment.
  • Symptoms:This section is currently in development.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
  • Categories:Birth DefectsGenetic DiseasesSkin Diseases
When Do Symptoms of Ichthyosis, congenital, autosomal recessive 4a Begin?
This section is currently in development. 

Symptoms

This section is currently in development. 

Causes

What Causes This Disease?

Genetic Mutations

Ichthyosis, congenital, autosomal recessive 4a is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD. 

Patient Organizations

6 Organizations

Organization Name

Who They Serve

Helpful Links

Country

Foundation for Ichthyosis and Related Skin Types
People With

Ichthyosis, congenital, autosomal recessive 4a

Helpful Links
Country

United States

Children's Skin Disease Foundation
People With

Skin diseases

Helpful Links
Country

United States

EveryLife Foundation for Rare Diseases
People With

Rare Diseases

Helpful Links
Country

United States

Genetic Alliance
People With

Rare Diseases

Helpful Links
Country

United States

Global Genes
People With

Rare Diseases

Helpful Links
Country

United States

National Organization for Rare Disorders
People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Join the All of Us Research Program!

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Read More

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Join the All of Us Research Program!

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Search ClinicalTrials.gov for this disease
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
1-888-205-2311
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Contact GARD
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Search ClinicalTrials.gov for this disease
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
1-888-205-2311
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Contact GARD
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
About the Disease

Learn about symptoms, cause, support, and research for a rare disease. 

Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: September 2024