Living with Autosomal recessive congenital ichthyosis 1
An inherited skin condition that causes scaling over the whole body, caused by changes in the TGM1 gene.
Understanding Autosomal recessive congenital ichthyosis 1
There are two main types. Lamellar ichthyosis causes larger, dark scales without redness. Nonbullous congenital ichthyosiform erythroderma causes redness and fine white scales. Both can cause nail problems. Scales can cover the whole body, including skin folds, and some people have scarring hair loss and trouble sweating.
Signs & symptoms
GARD doesn't list a symptom list for this condition. The summary describes these features:
- Scaly skin all over the body
- Skin redness (in one type)
- Larger, dark scales (in the other type)
- Nail problems
- Scarring hair loss
- Trouble sweating
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
It is caused by changes in the TGM1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: arci1; autosomal recessive congenital ichthyosis type 1; collodion fetus; desquamation of newborn; ichthyosis congenita; ichthyosis congenita ii
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesAutosomal recessive congenital ichthyosis 1 · United States
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