Other names: autosomal recessive congenital ichthyosis (ARCI); lamellar ichthyosis (LI)
Inheritance: autosomal recessive in most cases
Age at first appearance: birth, usually as collodion baby
Long-term course: lifelong; skin appearance may evolve early in life but generally stable thereafter; increased susceptibility to bacterial and fungal infections of skin; heat intolerance may be a problem for some
Diagnostic tests: genetic testing of blood
Abnormal gene(s): transglutaminase 1 (TGM1) in many cases; mutations also reported in ATP-binding cassette sub-family A member 12 (ABCA12), cytochrome P450 4F22 (CYP4F22), and ichthyin (NIPAL4).
Learn more about FIRST's Regional Support Network - connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.
This information is provided as a service to patients and parents of patients who have ichthyosis. It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents. Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here. All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.
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