Harlequin 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
 
 
 
 
  • Most severe form of Ichthyosis
  • Mutation in ABCA12 resulting in protein termination → perturbation of lipid transport
    • Paucity of lamellar bodies in stratum corneum & premature differentiation of keratinocytes
  • Severe collodion at birth, with ectropion, eclabion, contractures, synechiae
  • Premature delivery:
    • Risk of neonatal hypothermia, and hypernatremic dehydration
    • ~40% lethality, sepsis, respiratory insufficiency
  • Survivors develop severe CIE-like phenotype
    • Associated: tempreature dysregulation, recurrent infections, scarring alopecia
  • Treatment: early initiation of systemic retinoids