Lamellar Ichthyosis

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
 
 
Lamellar Ichthyosis
  • Mutation: TGM1, ABCA12, CYP4F22, CERS3, ALOXE3, ALOX12B, NIPAL4, PNPLA1 → abdnormal cornified envelope cross-linking
    • Thin cornified envelope and disorganized lamellar bilayers
  • Collodion at birth with ectropion/eclabion
  • Plate-like armor-like scaling
  • Flexural involvement
  • Variable PPK, dystrophic nails
  • Scarring alopecia
  • Hypohidrosis, heat intolerance