Congenital Ichthyosiform Erythroderma (CIE) (!)

Generalidades - Autosomal Recessive Congenital Ichthyosis (ARCI)
  • 12 genes associated with ARCI
    • Genes involve: lipid transport, lipid biosynthesis, fatty acid metabolism, role in assembling suprastructure (cornified envelope)
  • ARCI occurs in approximately 1 in 100.000 to 300.000 live births
  • Overlapping clinical features
  • Genotype phenotype correlation
    • Severity of the mutation correlates with severity of disease
  • Treatment
    • Emollients
    • Keratolytics
    • Topical and systemic retinoids
    • Infection control
    • Emerging role of biologic therapy (similar to psoriasiform disorders)
  • Differential diagnosis of Collodion Membrane
    • CIE (now ARCI)
    • L (Lamellar - now ARCI)
    • Ectodermal dysplasia
    • Neutral Lipid Storage
    • Self-healing collodion
    • Idiopathic
    • Gaucher’s (type 2)
    • Harlequin (now ARCI) Hay-Well’s (scalp erosions)
    • Trichothiodystrophy
 
 
Congenital Ichthyosiform Erythroderma (CIE) (!)
  • Mutation in ALOXE3, ALOX12B, TGM1, NIPAL4, ABCA12, CYP4F22, PNPLA1, LIPN, CerS3, SDR9C7, SLC27A4 → impaired lipid synthesis & metabolism in lamellar granules
    • Hyperkeratosis, keratinocyte vacuolization, a prominent granular layer with clumped keratin in suprabasal cells, lamellar body accumulation
  • Variable clinical presentation and severity
  • Fine white scaling with pronouced erythema develops over time
  • Accentuated in flexural surfaces
  • Variable palm/sole involvement
  • Heat intolerance/hypohidrosis
  • Ectropion, variable alopecia