Other names: autosomal recessive congenital ichthyosis (ARCI); congenital ichthyosiform erythroderma (CIE); non-bullous CIE (n-CIE)


OMIM: 242100

Inheritance: autosomal recessive in most cases

Incidence: 1:100,000

Key findings:

  • 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).

Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

To learn more about ARCI-CIE type ichthyosis, follow this link.

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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