Other names: autosomal recessive congenital ichthyosis (ARCI); congenital ichthyosiform erythroderma (CIE); non-bullous CIE (n-CIE)
Inheritance: autosomal recessive in most cases
- skin: generalized, fine, light-colored scale; skin is always red, sometimes intensely so; ectropion present, but often mild; thickening of palms, soles and flexures common; may have overlap with ARCI-lamellar ichthyosis type due to shared gene mutations
- hair: normal or sparse; abnormal-appearing hairs suggest other diagnoses
- nails: usually normal; may become dystrophic
Associated findings: often no other findings; however, the CIE phenotype is seen in many well-defined genetic abnormalities that do have associated findings, such as neutral lipid storage disease and trichothiodystrophy, and Sjogren-Larsson syndrome
Age at first appearance: birth, often as collodion baby
Long-term course: lifelong; skin appearance may evolve and fluctuate with age, increased susceptibility to infections of the skin; heat intolerance is common
Diagnostic tests: genetic testing of the blood
Abnormal gene(s): mutations have been identified in a variety of genes including transglutaminase 1 (TGM1), 12R-lipoxygenase (ALOX12B), lipoxygenase-3 (ALOXE3), ATP-binding cassette sub-family A member 12 (ABCA12), cytochrome P450 4F22 (CYP4F22), ichthyin (NIPAL4) and patatin-like phospholipase (PNPLA1).
|Meet Ana||Meet Logan||Meet Ema||Meet Deb|
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
« Back to Previous Page