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About Ichthyosis
Congenital Ichthyosiform Erythroderma

Other names: CIE; non-bullous CIE (n-CIE)


Inheritance: autosomal recessive

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

  • hair: usually normal; abnormal-appearing hairs suggest other diagnoses

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

Age at first appearance: birth, often as collodion baby

Long-term course: lifelong; increased susceptibility to infections of the skin; heat intolerance is common

Diagnostic tests: this group of individuals may require a wide variety of tests to establish the exact cause

Abnormal gene: unknown in most; small fraction have mutations in transglutaminase 1

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