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).
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Learn more about FIRST's Regional Support Network - connecting affected individuals and families with each other.
Clinicians seeking diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis
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