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

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).