Other names: CIE; non-bullous CIE (n-CIE)
OMIM:242100
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
