Autosomal Recessive Congenital Ichthyosis - Congenital Ichthyosiform Erythroderma (CIE) Type
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).
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.